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Articles de revues sur le sujet « Ms polymorphism »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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1

Cakina, Suat, Ozgul Ocak, Adile Ozkan, Selma Yucel, and Handan Isin Ozisik Karaman. "Vitamin D receptor gene polymorphisms in multiple sclerosis disease: A case-control study." Revista Romana de Medicina de Laborator 26, no. 4 (2018): 489–95. http://dx.doi.org/10.2478/rrlm-2018-0028.

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Abstract Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. Ap

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Bulan, B., AY Hoscan, SN Keskin, et al. "Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis." Balkan Journal of Medical Genetics 25, no. 1 (2022): 41–50. http://dx.doi.org/10.2478/bjmg-2022-0003.

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Abstract Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genom

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Steinman, L., J. R. Oksenberg, and C. C. A. Bernard. "Polymorphism in MS." Neurology 42, no. 2 (1992): 466. http://dx.doi.org/10.1212/wnl.42.2.466-b.

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Hillert, J., and O. Olerup. "Polymorphism in MS." Neurology 42, no. 2 (1992): 467. http://dx.doi.org/10.1212/wnl.42.2.467.

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Titova, M. A., V. M. Alifirova, N. F. Musina та T. N. Nikolaeva. "The Role of <i>TNF</i>-α, <i>TNFRSF1A</i>, and <i>CD40</i> Genes Polymorfisms in Multiple Sclerosis in Tomsk Region". Нейрохимия 40, № 3 (2023): 292–98. http://dx.doi.org/10.31857/s1027813323020152.

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We studied the role of polymorphisms rs1800629 of the TNF-α gene; rs4149584 of the TNFRSF1A gene; rs6074022, rs1883832, rs1535045, rs11086996 of the CD40 gene in the onset, clinical course and response to treatment in multiple sclerosis (MS) in a group of 152 patients, living in Tomsk region. 707 volunteers without autoimmune diseases and pathology of the nervous system were included in control group. The allele C of the rs6074022 polymorphism of CD40 gene was associated with the risk of MS and contributed to the high rate of disease progression. The T allele of the rs6074022 polymorphism of C

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Gade-Andavolu, Radhika, David E. Comings, James MacMurray, et al. "RANTES: a genetic risk marker for multiple sclerosis." Multiple Sclerosis Journal 10, no. 5 (2004): 536–39. http://dx.doi.org/10.1191/1352458504ms1080oa.

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Regulated upon activation, normal T-cell expressed and secreted (RANTES) is a beta-chemokine and has been detected in brain lesions of multiple sclerosis (MS) patients. Considering its potential role in MS, we screened two functional polymorphisms in the proximal promoter region of the RANTES in MS patients versus controls. Methods: We examined 140 postmortem brain samples from subjects with a primary diagnosis of MS, and peripheral blood samples from 216 control subjects. The RANTES-28C/G and -403G/A promoter polymorphisms were examined. All subjects were non-Hispanic Caucasians. Results: MS

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Dolcetti, Ettore, Antonio Bruno, Federica Azzolini, et al. "The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis." Genes 13, no. 2 (2022): 332. http://dx.doi.org/10.3390/genes13020332.

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The clinical course of multiple sclerosis (MS) is critically influenced by the interplay between inflammatory and neurodegenerative processes. The brain-derived neurotrophic factor (BDNF) Val66Met polymorphism (rs6265), one of the most studied single-nucleotide polymorphisms (SNPs), influences brain functioning and neurodegenerative processes in healthy individuals and in several neuropsychiatric diseases. However, the role of this polymorphism in MS is still controversial. In 218 relapsing–remitting (RR)-MS patients, we explored, at the time of diagnosis, the associations between the Val66Met

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Araújo, Eduarda Pontes dos Santos, Severina Carla Vieira da Cunha Lima, Ony Araújo Galdino, Ricardo Fernando Arrais, Karla Simone Costa de Souza, and Adriana Augusto de Rezende. "Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents." Nutrients 14, no. 21 (2022): 4612. http://dx.doi.org/10.3390/nu14214612.

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Associations between vitamin D deficiency and metabolic syndrome (MS) have been reported; however, the underlying biological mechanisms remain controversial. The aim of this study was to investigate the associations of CYP2R1 and VDR variants with MS and MS components in non-diabetic Brazilian adolescents. This cross-sectional study included 174 adolescents who were classified as overweight/obese. Three CYP2R1 variants and four VDR variants were identified by allelic discrimination. The CYP2R1 polymorphisms, rs12794714 (GG genotype) (odds ratio [OR] = 3.54, 95% confidence interval [CI] = 1.24–

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Ďurmanová, Vladimíra, I. Shawkatová, J. Javor, et al. "VLA4 Gene Polymorphism and Susceptibility to Multiple Sclerosis in Slovaks." Folia Biologica 61, no. 1 (2015): 8–13. http://dx.doi.org/10.14712/fb2015061010008.

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Multiple sclerosis (MS) is an inflammatory autoimmune disease occurring in genetically sensitive individuals. As migration of immune cells into the CNS is facilitated by the Very Late Antigen 4 (VLA-4) integrin molecule, the VLA4 gene may be considered as a plausible candidate genetic risk factor for susceptibility to MS. Therefore, the objective of our study was to investigate the association between two genetic polymorphisms located in the VLA4 gene and the risk of multiple sclerosis. One hundred seventeen MS patients and 165 control subjects from Slovakia were genotyped for VLA4 gene SNP po

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Martinez-Hernandez, A., E. E. Perez-Guerrero, M. A. Macias-Islas, et al. "Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study." Journal of Immunology Research 2021 (December 23, 2021): 1–11. http://dx.doi.org/10.1155/2021/7523997.

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Background. Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The aim of this study was to evaluate the association of MS with rs10766197 polymorphism of CYP2R1 gene and rs10877012 polymorphism of CYP27B1 gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. Material and Methods. In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnos

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Ito, Soichiro, Takeshi Hirota, Miyu Yanai, et al. "Effects of Genetic Polymorphisms of Cathepsin A on Metabolism of Tenofovir Alafenamide." Genes 12, no. 12 (2021): 2026. http://dx.doi.org/10.3390/genes12122026.

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Cathepsin A (CatA) is important as a drug-metabolizing enzyme responsible for the activation of prodrugs, such as the anti-human immunodeficiency virus drug Tenofovir Alafenamide (TAF). The present study was undertaken to clarify the presence of polymorphisms of the CatA gene in healthy Japanese subjects and the influence of gene polymorphism on the expression level of CatA protein and the drug-metabolizing activity. Single-strand conformation polymorphism method was used to analyze genetic polymorphisms in healthy Japanese subjects. Nine genetic polymorphisms were identified in the CatA gene.

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Khaliel, Alaa H., Ahmed A. Abbas, Anmar O. Hatem, and Ahmed S. Abdulamir. "THE IMPACT OF VERY LATE ANTIGEN 4 POLYMORPHISM ON DRUG RESPONSIVENESS IN PATIENTS WITH MULTIPLE SCLEROSIS INITIATION." Iraqi Journal of Medical Sciences 20, no. 1 (2022): 83–89. http://dx.doi.org/10.22578/ijms.20.1.11.

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Background: Very late antigen 4 (VLA4) integrin facilitates the immune cells migration to central nervous system (CNS) through blood brain barrier (BBB), so the polymorphism in this gene may be considered as genetic risk factor for multiple sclerosis (MS) occurrence. It may interact with the responsiveness level of Natalizumab. Objective: To show if VLA4 single nucleotide gene polymorphism (SNP) (C-269-A) considered as genetic predisposition factor for MS and if have a role in Natalizumab (Tysabri) drug non-responsiveness. Methods: Sixty-six (66) person with MS and 60 healthy persons involved

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Suriyaprom, Kanjana, Rungsunn Tungtrongchitr, and Pisit Namjuntra. "Associations of Resistin Levels with Resistin Gene Polymorphism and Metabolic Syndrome in Thais / Asocijacija Nivoa Rezistina Sa Polimorfizmom Gena Za Rezistin I Metaboličkim Sindromom Kod Tajlanđana." Journal of Medical Biochemistry 34, no. 2 (2015): 170–78. http://dx.doi.org/10.2478/jomb-2014-0034.

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Summary Background: Metabolic syndrome (MS) is a clinical constellation comprising risk factors associated with developing cardiovascular disease and type 2 diabetes. Resistin has been suggested as a linkage between obesity, inflammation and type 2 diabetes. This study aimed to investigate resistin concentrations and hematological-biochemical parameters in MS subjects and controls, and to determine whether two resistin gene (RETN) polymorphisms (-420C>G & +299G>A) are linked to resistin levels and MS among Thais. Methods: This case-control study was performed with 322 Thai volunteers

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Barto, Libor, and Ondřej Draganov. "The minimal arity of near unanimity polymorphisms." Mathematica Slovaca 69, no. 2 (2019): 297–310. http://dx.doi.org/10.1515/ms-2017-0223.

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Abstract Dmitriy Zhuk has proved that there exist relational structures which admit near unanimity polymorphisms, but the minimum arity of such a polymorphism is large and almost matches the known upper bounds. We present a simplified and explicit construction of such structures and a detailed, self–contained proof.

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Ю.И., Шрамко,, Агеева, Е.С., Малый, К.Д., et al. "Association of Adiponectin and Leptin Genetic Polymorphisms with Clinical Manifestations of Metabolic Syndrome." Nauchno-prakticheskii zhurnal «Medicinskaia genetika, no. 9 (September 30, 2022): 8–12. http://dx.doi.org/10.25557/2073-7998.2022.09.8-12.

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Абдоминальное ожирение, связанное с полигенными наследственными дефектами, считается начальным событием в развитии метаболического синдрома (МС). Целью исследования был анализ частоты полиморфизма генов адипонектина (ADIPOQ) и лептина (LEP) у пациентов с МС, а также ассоциации симптомов МС с полиморфизмом названных генов. ДНК была выделена из цельной крови 207 пациентов с МС и 100 здоровых лиц (контрольная группа). Полиморфизмы генов определяли методом полимеразной цепной реакции в реальном времени. Установлена ассоциация генотипа GG полиморфизма -2548 A/G (rs7799039) гена LEP с риском высоког

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Greve, Bernhard, Rostislav Simonenko, Zsolt Illes, et al. "Multiple sclerosis and the CTLA4 autoimmunity polymorphism CT60: no association in patients from Germany, Hungary and Poland." Multiple Sclerosis Journal 14, no. 2 (2007): 153–58. http://dx.doi.org/10.1177/1352458507082357.

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Polymorphisms in the CTLA4 gene region have been associated with susceptibility to autoimmune diseases. The recently described single nucleotide polymorphism CT60, located in the 3' untranslated region of CTLA4 is associated with Graves' disease, thyroiditis, autoimmune diabetes and other autoimmune diseases. A case-control association study was conducted in German, Hungarian and Polish multiple sclerosis (MS) patients and regional control individuals for the CTLA4 CT60 and + 49A/G polymorphisms. No significant association of these polymorphisms or respective haplotypes with MS was found. No a

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Ibrahim, Sherine M., and Afaf A. Bastawy. "The Relevance of Single-nucleotide Polymorphism +62 G>A to the Expression of Resistin Gene Affecting Serum Resistin Levels in Metabolic Syndrome in the Egyptian Population." Current Pharmaceutical Biotechnology 21, no. 7 (2020): 626–34. http://dx.doi.org/10.2174/1389201021666191210122851.

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Background: Metabolic Syndrome (MS) is a clinical condition consisting of risk factors associated with type two diabetes and developing cardiovascular disease. It has been suggested that resistin is a linkage between obesity, inflammation and type two diabetes. This study aims to investigate whether Resistin Gene (RETN) polymorphism (+62G>A) is linked to MS and resistin levels among the Egyptian population. Methods: This study was performed with 310 Egyptian volunteers: 160 MS subjects and 150 controls. Anthropometric parameters and biochemical variables were determined. The RETN +62G>A

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Lovrečić, Luca, Smiljana Ristić, Nada Starčević-Čizmarević, et al. "PAI and TPA gene polymorphisms in multiple sclerosis." Multiple Sclerosis Journal 14, no. 2 (2007): 243–47. http://dx.doi.org/10.1177/1352458507082603.

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Multiple sclerosis (MS) is an immune-mediated chronic inflammatory demyelinating disease of the central nervous system. It manifests as acute focal inflammatory demyelination and axonal loss with limited remyelination and results in the chronic multifocal sclerotic plaques. Previously published data showed impaired fibrinolysis in MS. Tissue plasminogen activator t-PA is a serine protease that catalyses the activation of plasmin, which mediates the effects of fibrinolytic system. Alu insertion/deletion (I/D) genetic polymorphism in TPA gene in MS patients has not been analysed previously. The

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Bagos, Pantelis G., Anthi C. Karnaouri, Georgios K. Nikolopoulos, and Stavros J. Hamodrakas. "No evidence for association of CTLA-4 gene polymorphisms with the risk of developing multiple sclerosis: a meta-analysis." Multiple Sclerosis Journal 13, no. 2 (2007): 156–68. http://dx.doi.org/10.1177/1352458507078059.

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We conducted a meta-analysis concerning the association of cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene polymorphisms with the risk of developing multiple sclerosis (MS). We identified 18 eligible studies summarizing information about 3375 MS cases and 2930 healthy controls. Two polymorphisms were of interest: the exon 1+49 A/G polymorphism (in 18 studies) and the promoter —318 C/T polymorphism (in 10 studies). Using random-effects methods we found no evidence for association of the various contrasts of genotypes (or allele frequencies) with the disease. There was significant betw

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Boyko, A. N., M. S. Kozin, G. Zh Osmak, O. G. Kulakova, and O. O. Favorova. "Mitochondrial genome and risk of multiple sclerosis." Neurology, Neuropsychiatry, Psychosomatics 11, no. 3 (2019): 43–46. http://dx.doi.org/10.14412/2074-2711-2019-3-43-46.

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Mitochondrial DNA (mtDNA) polymorphism makes a certain contribution to the formation of a genetic risk of multiple sclerosis (MS).Objective: to analyze the frequency of mtDNA variants in patients with MS and control individuals in the Russian population. A similar study was conducted for the first time.Patients and methods. The polymorphism of mtDNA was studied in the Russian population: in 283 unrelated patients with relapsing-remitting MS and in 290 unrelated healthy controls matched for gender and age.Results and discussion. The frequency of haplogroup J in the patients with MS was twice hi

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Nowak, Izabela, Sylwester Ciećwież, Beata Łój, Jacek Brodowski, and Agnieszka Brodowska. "Adiponectin Gene Polymorphism (rs17300539) Has No Influence on the Occurrence of Metabolic Syndrome in Women with Polycystic Ovary Syndrome." Genes 12, no. 12 (2021): 1902. http://dx.doi.org/10.3390/genes12121902.

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Adiponectin (rs17300539) is implicated in the pathogenesis of metabolic syndrome (MS), a common comorbidity of polycystic ovarian syndrome (PCOS). The aim of this study was to analyze the association between adiponectin gene polymorphism and incidence of MS in patients with PCOS. The study included 201 women (age 18 to 35 years), among them 81 patients with PCOS without concomitant MS, 70 subjects with PCOS and concomitant, and 50 regularly menstruating controls. Adiponectin gene polymorphism (11391 G/A, rs17300539) was determined by means of a real-time PCR. The study groups did not differ si

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Sarah Abdul Hameed Sahib, Ghassan Mohammad Sulaiman, and Huda J. Waheed. "Evaluation of the Frequency of (rs2227981 and rs2282055) Single Nucleotide Polymorphisms in Programmed Cell Death 1 and Its Ligand Genes of Iraqi Patients With Multiple Sclerosis." Iraqi Journal of Pharmaceutical Sciences( P-ISSN 1683 - 3597 E-ISSN 2521 - 3512) 33, no. 3 (2024): 209–17. http://dx.doi.org/10.31351/vol33iss3pp209-217.

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Abstract Multiple sclerosis (MS) is a central nervous system disease that causes demyelination and persistent inflammation and most of them among young adults. The current study aimed to assess gene polymorphism of PDCD1 and PDLCD1 genes and the frequency of two SNPs (rs2227981 and rs2282055). MS patients (n=100) were divided into two groups; newly diagnosed (42), and patients with ongoing treatments (58). These groups were compared to healthy subjects (n=55); the mean age ±SD was (30±8.46 years), (37±8.06years), and (31±8.73 years) for MS newly patients, patients with ongoing treatments, and

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Mas, A., A. Martínez, V. De Las Heras, et al. "The 795CT polymorphism in osteopontin gene is not associated with multiple sclerosis in a Spanish population." Multiple Sclerosis Journal 13, no. 2 (2007): 250–52. http://dx.doi.org/10.1177/1352458506070944.

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Multiple sclerosis (MS) is an inflammatory disease affecting the central nervous system. The dysregulation of the cytokine network is an important component of its pathogenesis. One of the cytokines produced by activated T-cells is osteopontin (OPN). OPN enhances the production of the pro-inflammatory cytokines, interleukin-12 and interferon-gamma, while reducing interleukin-10 levels. Therefore, OPN is considered a pro-inflammatory cytokine, and could play a key role in MS pathogenesis. The OPN gene contains several common polymorphisms, distributed in two main haplotypes, which may modulate

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Matsuo, Keitaro, Ritsuro Suzuki, Nobuyuki Hamajima, et al. "Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma." Blood 97, no. 10 (2001): 3205–9. http://dx.doi.org/10.1182/blood.v97.10.3205.

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Abstract Genetic alteration is considered a probable cause of malignant lymphoma. Folate and methionine metabolism play essential roles in DNA synthesis and DNA methylation, and their metabolic pathways might thus affect disease susceptibility. In the present study, 2 polymorphisms were evaluated for a folate metabolic enzyme, methylenetetrahydrofolate reductase (MTHFR), and one was evaluated for methionine synthase (MS). The 2 polymorphisms, MTHFR677 C→T and MTHFR1298 A→C, are reported to reduce the enzyme activity, which causes intracellular accumulation of 5,10-methylenetetrahydrofolate and

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Barac, Ioana S., Mihaela Iancu, Vitalie Văcăraș, et al. "Potential Contribution of IL-27 and IL-23 Gene Polymorphisms to Multiple Sclerosis Susceptibility: An Association Analysis at Genotype and Haplotype Level." Journal of Clinical Medicine 11, no. 1 (2021): 37. http://dx.doi.org/10.3390/jcm11010037.

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(1) Background: interleukin 23 (IL-23) and interleukin 27 (IL-27) modulate the activity of T helper 17 cells (Th17) with critical roles in autoimmune diseases and multiple sclerosis (MS). The genes responsible for cytokine generation are highly influenced by the presence of single nucleotide polymorphisms (SNP) in main regions such as regulatory sequences or in promoter regions, contributing to disease susceptibility and evolution. The present study analyzed the associations of IL-23 and IL-27 SNPs with susceptibility to multiple sclerosis. (2) Methods: We performed a case-control study includ

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Kurbanov, R. D., та N. Z. Srojidinova. "ROLE OF THE PPARГ PROI2ALA POLYMORPHISM IN HYPERTENSION AND METABOLIC SYNDROME". Eurasian heart journal, № 2 (30 червня 2012): 47–54. http://dx.doi.org/10.38109/2225-1685-2012-2-47-54.

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Aim. То study prevalence of Pro12Ala polymorphism of the PPARγ gene in Uzbek hypertensive patients and healthy men and its association with blood pressure and cardiovascular remodeling process. Methods. We observed 169 hypertensive patients and 50 healthy men Uzbek nationality. Metabolic syndrome (MS) was defined according to IDF, 2005. It has been performed oral glucose tolerance test, echocardiography, reactive hyperemia test, definition of common carotid intima-media thickness, lipids, microalbuminuria (MAU). Genotyping of Pro12Ala polymorphism of the PPARγ gene was determined by PCR amplif

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Lunev, K. V. "Association between course of multiple sclerosis and polymorphisms of calcitriol receptor gene VDR FokI (rs2228570), BSMI (rs1544410), TaqI (rs731236), ApaI (rs7975232)." Medical alphabet, no. 14 (October 19, 2023): 18–21. http://dx.doi.org/10.33667/2078-5631-2023-14-18-21.

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Objective. To evaluate the relationship between the frequency of exacerbations and the rate of progression of multiple sclerosis (MS) and polymorphisms of the calcitriol receptor gene VDR FokI (rs2228570), BSMI (rs1544410), TaqI (rs731236), ApaI (rs7975232).Material and methods. Ninety patients with relapsing-remitting MS took part in the study. All patients are Caucasians, were born and lived in the Altai region of the Russian Federation. Genotyping was performed by TaqMan probes.Results. A protective effect of the TT genotype VDR FokI (rs2228570) on the risk of increasing disability of more

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Valdés-Alvarado, Emmanuel, Miguel Huerta, Xochil Trujillo, et al. "Association between the -844 G>A, HindIII C>G, and 4G/5G PAI-1 Polymorphisms and Susceptibility to Multiple Sclerosis in Western Mexican Population." Disease Markers 2019 (October 7, 2019): 1–5. http://dx.doi.org/10.1155/2019/9626289.

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Introduction. Multiple sclerosis is an inflammatory disease, where fibrin deposition and the impairment in its degradation have been shown to play an important role in the demyelination process. Tissue plasminogen activator (tPA) is a serine protease that enhances the conversion of plasminogen into its active form plasmin, the principal tPA inhibitor is the PAI-1. Several PAI-1 polymorphisms impact its gene expression and protein activity. Furthermore, the aim of this study was to investigate the association between the - 844 G>A, HindIII C>G, and 4G/5G PAI-1 polymorphisms and susceptibi

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Abouzid, Mohamed, Łukasz Kruszyna, Dominika Kaczmarek, et al. "Genetic Polymorphism of CYP2R1, CYP27A1, CYP27B1, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study." Biomolecules 15, no. 5 (2025): 699. https://doi.org/10.3390/biom15050699.

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The active form of vitamin D, calcitriol (1,25(OH)2D3), is produced from 25(OH)D3 via enzymes encoded by CYP2R1, CYP27A1, and CYP27B1. Polymorphisms in these genes may alter vitamin D metabolism and increase cardiovascular disease risk. This preliminary study investigated these polymorphisms in 27 patients with cardiovascular disease and 26 healthy volunteers using Polymerase Chain Reaction—Restriction Fragment Length Polymorphism (PCR-RFLP), while measuring 25(OH)D3 and 1,25(OH)2D3 concentrations by UPLC-MS/MS and ELISA, respectively. Among patients, those with the GT genotype of rs10877012 (

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Kalvaitis, Lukas, Greta Gedvilaite-Vaicechauskiene, Loresa Kriauciuniene, Renata Balnyte, and Rasa Liutkeviciene. "TNF-alfa Gene Polymorphism Associations with Multiple Sclerosis." Journal of Clinical Medicine 13, no. 13 (2024): 3693. http://dx.doi.org/10.3390/jcm13133693.

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Background: TNF-α has a dual role in multiple sclerosis (MS), contributing to both protective and harmful effects. It activates immune cells, promotes the formation of inflammatory lesions in the central nervous system, and stimulates the production of other pro-inflammatory cytokines and chemokines, leading to myelin destruction and neuronal damage. Our research focused on investigating the relationship between TNF-alpha (rs1800630, rs1800629, and rs361525) gene polymorphisms and MS. Methods: 250 healthy controls and 250 multiple sclerosis (MS) patients were included in the study. DNA was ext

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Huang, Q. R., S. M. Teutsch, M. McW Buhler, et al. "Evaluation of the Apo-1/Fas promoter Mva I polymorphism in multiple sclerosis." Multiple Sclerosis Journal 6, no. 1 (2000): 14–18. http://dx.doi.org/10.1177/135245850000600104.

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The pathogenesis of multiple sclerosis is under strong genetic control involving several or more genes each of modest effect. Whilst the mechanisms underlying the pathogenesis of MS remain unknown, it has been hypothesised that either decreased apoptosis of autoreactive T cells in the CNS, or increased apoptosis of oligodendrocytes may play an important role. The Apo-1/Fas antigen (CD95), the gene for which is located in a chromosomal region showing linkage in MS genome screens, is a critical inducer of apoptosis and studies have shown aberrant expression of this molecule in MS, correlating wi

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Yan, Jun, Jia Liu, Clement Yihao Lin, et al. "Interleukin-6 Gene Promoter-572 C Allele May Play a Role in Rate of Disease Progression in Multiple Sclerosis." International Journal of Molecular Sciences 13, no. 10 (2012): 13667–79. http://dx.doi.org/10.3390/ijms131013667.

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Multiple sclerosis (MS) is an inflammatory demyelinating disease affecting the central nervous system. Although the exact pathogenesis of MS is unknown, it is generally considered to be an autoimmune disease, with numerous genetic and environmental factors determining disease susceptibility and severity. One important mediator of immune responses and inflammation is interleukin-6 (IL-6). Previously, elevated levels of IL-6 in mononuclear cells in blood and in brain tissue from MS patients have been reported. Various polymorphisms in the promoter region of the IL6 gene have also been linked wit

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Chen, Ai-Rong, Hong-Gang Zhang, Zhi-Ping Wang, et al. "C-reactive protein, vitamin B12 and C677T polymorphism of N-5,10-methylenetetrahydrofolate reductase gene are related to insulin resistance and risk factors for metabolic syndrome in Chinese population." Clinical & Investigative Medicine 33, no. 5 (2010): 290. http://dx.doi.org/10.25011/cim.v33i5.14354.

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Purpose: Metabolic syndrome (MS) and type 2 diabetes mellitus (T2DM) are complex diseases affected by both dietary intake and genetic background. Whether N-5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism, high-sensitivity C-reactive protein (hs-CRP) and dietary components folate and vitamin B12 are associated with MS in Asian has not been determined.   Methods: We hypothesized that MTHFR gene C677T, folate, vitamin B12 and hs-CRP are associated with MS and factors related to MS in northern Han Chinese. To test this hypothesis, MTHFR C677T gene polymorphism

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Rabago-Barajas, Brenda Viridiana, Miguel Ángel Macias-Islas, Ana Miriam Saldaña-Cruz, Jesús Emmanuel Arana-Yepez, Eva Maria Olivas-Flores, and Adriana Aguayo-Arelis. "Association of the Val66Met Polymorphism of the BDNF Gene with the Depression in a Mexican Population with Multiple Sclerosis." Life 15, no. 2 (2025): 213. https://doi.org/10.3390/life15020213.

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Multiple sclerosis (MS) is a chronic, autoimmune pathology that affects the nervous system. It is characterized by inflammatory lesions that cause axonal damage with neurodegeneration. The signs and symptoms present in this pathology include among others, psychiatric disorders. In MS, depression is the most frequent psychiatric disorder, with prevalence levels of 40 to 60%; to date, the cause is unknown. The brain-derived neurotrophic factor (BDNF) is a neurotrophin related to neuroplasticity. The single-nucleotide polymorphism Val66Met, encoded by the BDNF gene, has been associated with vario

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LIU, Zhi-zhen, Jun-tao ZHANG, Dan LIU, et al. "Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population." Chinese Medical Journal 126, no. 5 (2013): 865–69. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.20121688.

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Background The 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are attractive candidates for screening for risk of neural tube defects (NTDs). The aim of the current study was to investigate maternal MTHFR and MS polymorphisms and the interaction between them and their influence on children with NTDs in the Shanxi Province of northern China. Methods Fifty-one mothers who previously had children with NTDs constituted the case group and 51 age-matched mothers with children that were unaffected by any birth defects constituted the control group. All subjects were gen

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Asgharzadeh, Mohammad, Zahra A. Jigheh, Hossein S. Kafil, et al. "Association of Interleukin-1 and Inteleukin-1 Receptor Antagonist Gene Polymorphisms with Multiple Sclerosis in Azeri Population of Iran." Endocrine, Metabolic & Immune Disorders - Drug Targets 20, no. 7 (2020): 1110–16. http://dx.doi.org/10.2174/1871530320666200309142541.

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Background: Cytokines as important mediators have a critical role in appropriate immune responses, the irregular production of which can lead to Multiple Sclerosis (MS). Proinflammatory cytokine interleukin-1 (IL-1) triggers inflammatory responses. Function and production of the cytokine are influenced by IL-1 coding gene polymorphism and those antagonists gene polymorphism. Objective: The aim of the present study was to evaluate the possible correlation between MS and IL-1 related alleles in Azeri population of Iran. Methods: Variable number tandem repeats (VNTR) genotypes of 150 MS patients

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HUNT, CLIVE C. J., JODI E. BURLEY, CAROLINE M. L. CHAPMAN, and JOHN P. BEILBY. "A high-throughput MS-PCR method on MADGE gels for ANG II type-1 receptor A1166C polymorphism." Physiological Genomics 1, no. 2 (1999): 71–73. http://dx.doi.org/10.1152/physiolgenomics.1999.1.2.71.

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Hunt, Clive C. J., Jodi E. Burley, Caroline M. L. Chapman, and John P. Beilby. A high-throughput MS-PCR method on MADGE gels for ANG II type-1 receptor A1166C polymorphism. Physiol. Genomics 1: 71–73, 1999.—We have developed a highly accurate, low-cost, single-step, mutagenically separated polymerase chain reaction (MS-PCR) method for the determination of angiotensin II type-1 receptor (AT1) A1166C gene polymorphism. The genotypes are determined using the microtiter array diagonal gel electrophoresis (MADGE) system. We have compared the MS-PCR method with allele-specific oligonucleotide hybrid

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Pistono, Cristiana, Cecilia Osera, Maria Cristina Monti, et al. "Vitamin D Receptor and Its Influence on Multiple Sclerosis Risk and Severity: From Gene Polymorphisms to Protein Expression." Immuno 2, no. 3 (2022): 469–81. http://dx.doi.org/10.3390/immuno2030029.

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Multiple sclerosis (MS) is a multifactorial neurodegenerative disease. Low levels of vitamin D are a risk factor for MS and alterations in the vitamin D receptor (VDR) might be a risk factor as well. This study aimed to evaluate whether the VDR rs731236 (Taq-I) and rs4334089 (HpyCH4V) gene polymorphisms and VDR protein expression are associated with MS risk and severity. Vitamin D plasma levels were analyzed in a group of patients. Additional analyses of VDR protein expression and vitamin D levels of patients with different forms of MS (MSSS < 3 and MSSS ≥ 3) were performed. The analysis of

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Shramko, Iuliana, Elizaveta Ageeva, Konstantin Maliy, Irina Repinskaya, and Anna Gurtovaya. "Genetic and pathophysiological substantiation of polyphenolic grape processing products’ application in the treatment of metabolic syndrome in the population of the Republic of Crimea." BIO Web of Conferences 39 (2021): 06001. http://dx.doi.org/10.1051/bioconf/20213906001.

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Adipose tissue in abdominal obesity produces various cytokines, the most important of which is adiponectin (AN). Polymorphism of the AN receptor genes is associated with the risk of metabolic syndrome (MS) and type 2 diabetes mellitus (DM2) development. The aim of the study was to investigate the association of AN genes receptors’ polymorphism with the development of MS and DM2 in the Republic of Crimea as well as the possibility of named pathology correction with polyphenolic functional foods. The study included 100 patients with confirmed diagnosis of DM2 and MS. Genomic DNA was isolated fro

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Li, Keshen, Bin Zhao, Dawei Dai, et al. "A functional p.82G>S polymorphism in the RAGE gene is associated with multiple sclerosis in the Chinese population." Multiple Sclerosis Journal 17, no. 8 (2011): 914–21. http://dx.doi.org/10.1177/1352458511403529.

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Background: The receptor for advanced glycation end products (RAGE) and its proinflammatory ligand, S100-calgranulins, are critically implicated in the pathological progression of multiple sclerosis (MS). A functional polymorphism within the V-type immunoglobulin domain of RAGE gene, p.82G>S (c.557G>A), has been shown to affect ligand binding affinity and thus may affect susceptibility to MS. Methods: The RAGE p.82G>S polymorphism was genotyped in 144 MS patients and 156 healthy controls using polymerase chain reaction – restriction fragment length polymorphism. A replication study wa

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Kreft, Karim L., Gijsbert P. Van Nierop, Sandra M. J. Scherbeijn, Malou Janssen, Georges M. G. M. Verjans, and Rogier Q. Hintzen. "Elevated EBNA-1 IgG in MS is associated with genetic MS risk variants." Neurology - Neuroimmunology Neuroinflammation 4, no. 6 (2017): e406. http://dx.doi.org/10.1212/nxi.0000000000000406.

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Objective:To assess whether MS genetic risk polymorphisms (single nucleotide polymorphism [SNP]) contribute to the enhanced humoral immune response against Epstein-Barr virus (EBV) infection in patients with MS.Methods:Serum anti-EBV nuclear antigen 1 (EBNA-1) and early antigen D (EA-D) immunoglobulin γ (IgG) levels were quantitatively determined in 668 genotyped patients with MS and 147 healthy controls. Anti–varicella-zoster virus (VZV) IgG levels were used as a highly prevalent, non-MS–associated control herpesvirus. Associations between virus-specific IgG levels and MS risk SNPs were analy

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Insha, Zahoor, Shafi Amrina, and A. Mir Mudasir. "Lack of association between CD45 C77G polymorphism and multiple sclerosis in Kashmir." International Journal of Trend in Scientific Research and Development 1, no. 6 (2017): 1333–37. https://doi.org/10.31142/ijtsrd5813.

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Multiple sclerosis MS is a severe disabling and demyelinating disease of the nervous system. Its etiology involves profound genetic component. The latest contender known to have been correlated with MS is protein tyrosine phosphatase receptor type C PTPRC or CD45 however, to date its role remains contentious. The aim of the current study was to examine the association of functionally significant exon 4 C77G polymorphism of CD45 with MS in Kashmiri population from Indian subcontinent. The preliminary findings of our study revealed absence of C77G in majority of the cases as well as controls. Th

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唐, 宏. "Polymorphism and Cocrystal Research Progress of Vanillin." Material Sciences 12, no. 02 (2022): 112–22. http://dx.doi.org/10.12677/ms.2022.122012.

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Masnavieva, Liudmila B., Nadezhda P. Chistova, Olga V. Naumova, and Irina V. Kudaeva. "The role of LEPR, PPARG and PPARGC1A genes polymorphisms in the development of metabolic disorders in patients with vibration diseases." Hygiene and sanitation 100, no. 7 (2021): 711–16. http://dx.doi.org/10.47470/0016-9900-2021-100-7-711-716.

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Introduction. Patients with vibration disease (VD) often have obesity and metabolic syndrome (MS), which increase the risk of developing type 2 diabetes, hypertension, and other conditions predisposing to a decrease in the quality and longevity of life. Genetic predisposition, overnutrition, environmental factors, including industrial ones, and others are factors influencing the formation of MS. The aim of the study is to identify associations between polymorphisms of the LEPR, PPARG and PPARGC1A genes, metabolic syndrome and obesity in VD patients caused by exposure to local vibration and the

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Scazzone, Concetta, Luisa Agnello, Bruna Lo Sasso, et al. "FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis." Brain Sciences 11, no. 4 (2021): 415. http://dx.doi.org/10.3390/brainsci11040415.

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Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D3. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants,

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Fu, Zenghui, Yan Jiang, Jing Liu, Zaihong Lin, and Yan Jin. "Study on plasma CC chemokine ligand 2 level and its promoter region 2518A/G polymorphism in MS patients." European Journal of Inflammation 18 (January 2020): 205873922095991. http://dx.doi.org/10.1177/2058739220959913.

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The increase of CC chemokine ligand 2 (CCL2) is associated with multiple sclerosis (MS), but the relationship between gene promoter region 2518A/G and the pathogenesis of MS is still not obvious. Collected 54 cases of relapsing-remitting MS patients and 54 healthy controls. By detecting the CCL2-2518A/G polymorphism of MS patients and analyzing the plasma CCL2 level. High levels of A/A genotype and A allele frequency in serum CCL2 and PBMC were found in MS patients. The serum CCL2 of MS patients with A/A genotype is higher than other genotypes. Lipopolysaccharide stimulated PBMC, CCL2 levels i

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Grilo, Antonio, Maria Fernandez, Manuel Beltrán, et al. "Genetic analysis of CAV1 gene in hypertension and metabolic syndrome." Thrombosis and Haemostasis 95, no. 04 (2006): 696–701. http://dx.doi.org/10.1160/th05-10-0699.

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SummaryRecently, we reported that the polymorphism 1132T>C (Gene-Bank: AF519768.1) of the NOS3 gene was associated with susceptibility to metabolic syndrome (MS) in hypertensive patients. This suggests that other genes such as CAV1, whose product (CAV1) regulates eNOS activity, could also be related to this phenotype.In this work we investigated the following:i) whether CAV1 is a quantitative trait locus of clustering of atherothrombotic traits associated with MS; ii) whether CVA1 is associated with hypertension or MS in hypertensive patients; and iii) whether genetic interaction between NO

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Elchaninova, E. Yu, I. V. Smagina, A. I. Afanas’eva, and S. A. Elchaninova. "HLA-DRB1 polymorphism and risk of pediatric-onset and adult-onset multiple sclerosis: a case–control study." Russian neurological journal 28, no. 1 (2023): 33–40. http://dx.doi.org/10.30629/2658-7947-2023-28-1-33-40.

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The association of predisposition to multiple sclerosis (MS) with HLA-DRB1 gene polymorphisms is the strongest. It is not clear whether the DRB1 alleles associated with the risk of this disease diff er in adult and pediatric populations living in the same environmental conditions.Objective: comparative study of associations of HLA-DRB1 gene polymorphism with the risk of pediatric-onset MS and adult-onset MS in the Altai region.Material and methods. Caucasian with relapsing-remitting MS, born and living in the Altai region of Russia in the southeast of Western Siberia, participated in the case–

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Cozma, Angela, Adela Sitar Taut, Olga Orasan, et al. "The Relationship Between eNOS (G894T ) Gene Polymorphism and Arterial Stiffness in Patients with Metabolic Syndrome." Revista de Chimie 69, no. 9 (2018): 2351–56. http://dx.doi.org/10.37358/rc.18.9.6532.

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Metabolic syndrome (MS) is a clustering entity characterized by obesity, hypertension, hyperglycemia, dyslipidemia, and insulin resistance. Atherosclerotic lesions may be a complication of MS, arising from endothelial dysfunction and induced by decreased nitric oxide (NO) production. NO is synthesized by nitric oxide synthase (eNOS), encoded by the NOS3 gene, and displays anti-inflammatory, vasodilatory, and antiproliferative effects.We aimed to investigate the relationship between the G894T polymorphism of the eNOS gene and metabolic syndrome (including its components) and the association of

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Kozin, M. S., I. S. Kiselev, A. N. Boyko, O. G. Kulakova, and O. O. Favorova. "The combined effect of nuclear and mitochondrial genomes on the risk of developing multiple sclerosis." Neurology, Neuropsychiatry, Psychosomatics 12, no. 1S (2020): 15–19. http://dx.doi.org/10.14412/2074-2711-2020-1s-15-19.

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Multiple sclerosis (MS) is a severe chronic CNS disease characterized by autoimmune inflammation, demyelination, and neurodegeneration. The interaction of mitochondrial and nuclear genomes is shown to be important in the formation of a predisposition to many diseases.Objective: to analyze the association of MS with the carriage of biallelic combinations, including as components the polymorphisms of three genes of mitochondrial DNA (mtDNA) and those of 16 nuclear genes, the products of which are involved in the functioning of the immune system and may participate in the development of autoimmun

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