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Journal articles on the topic 'GWAS replication'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Carrasquillo, Minerva, Belbin Olivia, Hunter Talisha, et al. "P1-217: Replication of LOAD GWAS Associations." Alzheimer's & Dementia 7 (July 2011): S180—S181. http://dx.doi.org/10.1016/j.jalz.2011.05.496.

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Li, Jin, Qiushi Zhang, Feng Chen, et al. "Genetic Interactions Explain Variance in Cingulate Amyloid Burden: An AV-45 PET Genome-Wide Association and Interaction Study in the ADNI Cohort." BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/647389.

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Alzheimer’s disease (AD) is the most common neurodegenerative disorder. Using discrete disease status as the phenotype and computing statistics at the single marker level may not be able to address the underlying biological interactions that contribute to disease mechanism and may contribute to the issue of “missing heritability.” We performed a genome-wide association study (GWAS) and a genome-wide interaction study (GWIS) of an amyloid imaging phenotype, using the data from Alzheimer’s Disease Neuroimaging Initiative. We investigated the genetic main effects and interaction effects on cingul

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Jia, Yumeng, Xin Qi, Mei Ma, et al. "Integrating genome-wide association study with regulatory SNP annotations identified novel candidate genes for osteoporosis." Bone & Joint Research 12, no. 2 (2023): 147–54. http://dx.doi.org/10.1302/2046-3758.122.bjr-2022-0206.r1.

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AimsOsteoporosis (OP) is a metabolic bone disease, characterized by a decrease in bone mineral density (BMD). However, the research of regulatory variants has been limited for BMD. In this study, we aimed to explore novel regulatory genetic variants associated with BMD.MethodsWe conducted an integrative analysis of BMD genome-wide association study (GWAS) and regulatory single nucleotide polymorphism (rSNP) annotation information. Firstly, the discovery GWAS dataset and replication GWAS dataset were integrated with rSNP annotation database to obtain BMD associated SNP regulatory elements and S

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Joo, Jungnam, Ju-Hyun Park, Bora Lee, et al. "Robust Association Tests for the Replication of Genome-Wide Association Studies." BioMed Research International 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/461593.

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In genome-wide association study (GWAS), robust genetic association tests such as maximum of three CATTs (MAX3), each corresponding to recessive, additive, and dominant genetic models, the minimumpvalue of Pearson’s Chi-square test with 2 degrees of freedom, and CATT based on additive genetic model (MIN2), genetic model selection (GMS), and genetic model exclusion (GME) methods have been shown to provide better power performance under wide range of underlying genetic models. In this paper, we demonstrate how these robust tests can be applied to the replication study of GWAS and how the overall

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Barnekow, Elin, Wen Liu, Emil Andersson, et al. "A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk." PLOS ONE 20, no. 3 (2025): e0316086. https://doi.org/10.1371/journal.pone.0316086.

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Genome-wide association studies [GWAS] have identified a limited number of endometrial cancer risk loci by analyzing single nucleotide polymorphisms [SNPs]. We hypothesized that analyzing haplotypes rather than SNPs could provide novel and more detailed information on genetic cancer susceptibility loci. To examine the association of a SNP or haplotype with endometrial cancer risk we performed a two-stage haplotype GWAS. The discovery GWAS included a sub-cohort of 1,116 Swedish endometrial cancer cases and 5,021 controls from previously published GWAS data. A sliding window analysis was employe

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Sandoval-Plata, Gabriela, Kevin Morgan, and Abhishek Abhishek. "Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank." Annals of the Rheumatic Diseases 80, no. 9 (2021): 1220–26. http://dx.doi.org/10.1136/annrheumdis-2020-219796.

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ObjectivesTo perform a genome-wide association study (GWAS) of gout cases versus asymptomatic hyperuricaemia (AH) controls, and gout cases versus normouricaemia controls, and to generate a polygenic risk score (PRS) to determine gout-case versus AH-control status.MethodsGout cases and AH controls (serum urate (SU) ≥6.0 mg/dL) from the UK Biobank were divided into discovery (4934 cases, 56 948 controls) and replication (2115 cases, 24 406 controls) cohorts. GWAS was conducted and PRS generated using summary statistics in discovery cohort as the base dataset and the replication cohort as the tar

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Hubacek, Jaroslav A., Vera Adamkova, Vera Lanska, and Dana Dlouha. "Polygenous hypercholesterolemia. Replication of GWAS results on Czech slavonic population." Atherosclerosis 263 (August 2017): e226-e227. http://dx.doi.org/10.1016/j.atherosclerosis.2017.06.739.

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Fan, Xiaoping, Jing Wang, Wen Fan, et al. "Replication of Migraine GWAS Susceptibility Loci in Chinese Han Population." Headache: The Journal of Head and Face Pain 54, no. 4 (2014): 709–15. http://dx.doi.org/10.1111/head.12329.

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Okamoto, D., Y. Kakuta, N. Takeo, et al. "P822 Genetic analysis of ulcerative colitis in Japanese individuals using population-specific SNP array." Journal of Crohn's and Colitis 14, Supplement_1 (2020): S638—S639. http://dx.doi.org/10.1093/ecco-jcc/jjz203.950.

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Abstract Background Previous genome wide association studies (GWASs) have identified over 200 susceptibility loci for inflammatory bowel diseases (IBD), but studies in non-European population are limited. To clarify the genetic background of ulcerative colitis (UC) in the Japanese population, we conducted GWAS using a population specific SNP array (Japonica Array). Methods Discovery GWAS included 624 UC patients and 2004 healthy controls (HC) and replication study included 1075 UC patients and 419 HCs. We performed GWAS using a Japonica Array and the subsequent imputation with a Japanese popul

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Yu, Xinting, and Shisong Rong. "Genome-Wide Associations and Confirmatory Meta-Analyses in Diabetic Retinopathy." Genes 14, no. 3 (2023): 653. http://dx.doi.org/10.3390/genes14030653.

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The present study aimed to summarize and validate the genomic association signals for diabetic retinopathy (DR), proliferative DR, and diabetic macular edema/diabetic maculopathy. A systematic search of the genome-wide association study (GWAS) catalog and PubMed/MELINE databases was conducted to curate a comprehensive list of significant GWAS discoveries. The top signals were then subjected to meta-analysis using established protocols. The results indicate the need for improved consensus among DR GWASs, highlighting the importance of validation efforts. A subsequent meta-analysis confirmed the

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Kleinstern, Geffen, Huihuang Yan, Michelle A. T. Hildebrandt, et al. "Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways." Human Molecular Genetics 29, no. 1 (2019): 70–79. http://dx.doi.org/10.1093/hmg/ddz228.

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Abstract We previously identified five single nucleotide polymorphisms (SNPs) at four susceptibility loci for diffuse large B-cell lymphoma (DLBCL) in individuals of European ancestry through a large genome-wide association study (GWAS). To further elucidate genetic susceptibility to DLBCL, we sought to validate two loci at 3q13.33 and 3p24.1 that were suggestive in the original GWAS with additional genotyping. In the meta-analysis (5662 cases and 9237 controls) of the four original GWAS discovery scans and three replication studies, the 3q13.33 locus (rs9831894; minor allele frequency [MAF] =

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Tkachenko, Alexander A., Anton I. Changalidis, Evgeniia M. Maksiutenko, Yulia A. Nasykhova, Yury A. Barbitoff, and Andrey S. Glotov. "Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen." Genes 15, no. 7 (2024): 931. http://dx.doi.org/10.3390/genes15070931.

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Over the last two decades, numerous genome-wide association studies (GWAS) have been performed to unveil the genetic architecture of human complex traits. Despite multiple efforts aimed at the trans-biobank integration of GWAS results, no systematic analysis of the variant-level properties affecting the replication of known associations (or identifying novel ones) in genome-wide meta-analysis has yet been performed using biobank-scale data. To address this issue, we performed a systematic comparison of GWAS summary statistics for 679 complex traits in the UK Biobank (UKB) and FinnGen (FG) coho

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Demirkan, A., J. Lahti, N. Direk, et al. "Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies." Psychological Medicine 46, no. 8 (2016): 1613–23. http://dx.doi.org/10.1017/s0033291715002081.

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BackgroundMajor depressive disorder (MDD) is moderately heritable, however genome-wide association studies (GWAS) for MDD, as well as for related continuous outcomes, have not shown consistent results. Attempts to elucidate the genetic basis of MDD may be hindered by heterogeneity in diagnosis. The Center for Epidemiological Studies Depression (CES-D) scale provides a widely used tool for measuring depressive symptoms clustered in four different domains which can be combined together into a total score but also can be analysed as separate symptom domains.MethodWe performed a meta-analysis of G

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Sato, Youichi, Atsushi Tajima, Takehiro Sato, et al. "Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men." Journal of Medical Genetics 55, no. 6 (2018): 415–21. http://dx.doi.org/10.1136/jmedgenet-2017-104991.

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BackgroundThe decrease in sperm motility has a potent influence on fertilisation. Sperm motility, represented as the percentage of motile sperm in ejaculated sperms, is influenced by lifestyle habits or environmental factors and by inherited factors. However, genetic factors contributing to individual differences in sperm motility remain unclear. To identify genetic factors that influence human sperm motility, we performed a genome-wide association study (GWAS) of sperm motility.MethodsA two-stage GWAS was conducted using 811 Japanese men in a discovery stage, followed by a replication study u

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Hadjigeorgiou, Georgios M., Persia-Maria Kountra, Georgios Koutsis, et al. "Replication study of GWAS risk loci in Greek multiple sclerosis patients." Neurological Sciences 40, no. 2 (2018): 253–60. http://dx.doi.org/10.1007/s10072-018-3617-6.

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Schafmayer, Clemens, James William Harrison, Stephan Buch, et al. "Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms." Gut 68, no. 5 (2019): 854–65. http://dx.doi.org/10.1136/gutjnl-2018-317619.

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ObjectiveDiverticular disease is a common complex disorder characterised by mucosal outpouchings of the colonic wall that manifests through complications such as diverticulitis, perforation and bleeding. We report the to date largest genome-wide association study (GWAS) to identify genetic risk factors for diverticular disease.DesignDiscovery GWAS analysis was performed on UK Biobank imputed genotypes using 31 964 cases and 419 135 controls of European descent. Associations were replicated in a European sample of 3893 cases and 2829 diverticula-free controls and evaluated for risk contribution

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Thibord, Florian, Derek Klarin, Jennifer A. Brody, et al. "Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors." Circulation 146, no. 16 (2022): 1225–42. http://dx.doi.org/10.1161/circulationaha.122.059675.

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Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aim of our research was to expand discovery of new genetic loci associated with VTE by using cross-ancestry genomic resources. Methods: We present new cross-ancestry meta-analyzed GWAS results involving up to 81 669 VTE cases from 30 studies,

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Thio, Chris H. L., Anna Reznichenko, Peter J. van der Most, et al. "Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci." American Journal of Nephrology 49, no. 3 (2019): 193–202. http://dx.doi.org/10.1159/000496930.

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Background: Serum urea level is a heritable trait, commonly used as a diagnostic marker for kidney function. Genome-wide association studies (GWAS) in East-Asian populations identified a number of genetic loci related to serum urea, however there is a paucity of data for European populations. Methods: We performed a two-stage meta-analysis of GWASs on serum urea in 13,312 participants, with independent replication in 7,379 participants of European ancestry. Results: We identified 6 genome-wide significant single nucleotide polymorphisms (SNPs) in or near 6 loci, of which 2 were novel (POU2AF1

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Koller, Daniel L., Shoji Ichikawa, Dongbing Lai, et al. "Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women." Journal of Clinical Endocrinology & Metabolism 95, no. 4 (2010): 1802–9. http://dx.doi.org/10.1210/jc.2009-1903.

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Abstract Context: Several genome-wide association studies (GWAS) have been performed to identify genes contributing to bone mineral density (BMD), typically in samples of elderly women and men. Objective: The objective of the study was to identify genes contributing to BMD in premenopausal women. Design: GWAS using the Illumina 610Quad array in premenopausal European-American (EA) women and replication of the top 50 single-nucleotide polymorphisms (SNPs) for two BMD measures in African-American (AA) women. Subjects: Subjects included 1524 premenopausal EA women aged 20–45 yr from 762 sibships

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Bartram, Thies, Peter Schütte, Anja Möricke, et al. "Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia." Journal of Clinical Medicine 10, no. 21 (2021): 4815. http://dx.doi.org/10.3390/jcm10214815.

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Background: Acute pancreatitis (AP) is a serious, mechanistically not entirely resolved side effect of L-asparaginase-containing treatment for acute lymphoblastic leukemia (ALL). To find new candidate variations for AP, we conducted a genome-wide association study (GWAS). Methods: In all, 1,004,623 single-nucleotide variants (SNVs) were analyzed in 51 pediatric ALL patients with AP (cases) and 1388 patients without AP (controls). Replication used independent patients. Results: The top-ranked SNV (rs4148513) was located within the ABCC4 gene (odds ratio (OR) 84.1; p = 1.04 × 10−14). Independent

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Wong, Gunther, Xavier Bledsoe, Eric Gamazon, and Rohan V. Chitale. "280 A Transcriptome-Wide Association Study of Intracranial Aneurysm Identifies Novel Risk Genes and Overlapping Genetic Architecture With Other Vascular Disorders." Neurosurgery 71, Supplement_1 (2025): 68. https://doi.org/10.1227/neu.0000000000003360_280.

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INTRODUCTION: Intracranial aneurysms (IAs) are common cerebrovascular lesions with well-documented heritability. Numerous genome-wide association studies (GWAS) have attempted to define IA genetic architecture. However, linking individual risk SNPs from these studies to genes and causal pathways is challenging. To address this, transcriptome-wide association studies (TWAS) directly analyze gene-trait associations. METHODS: We conducted a two-stage TWAS using summary-level GWAS. The discovery cohort was European (GWAS from Bakker et al) and the replication cohort was Japanese (GWAS from Sakaue

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McLaren, Christine E., Chad P. Garner, Clare C. Constantine, et al. "Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency." Blood 114, no. 22 (2009): 4048. http://dx.doi.org/10.1182/blood.v114.22.4048.4048.

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Abstract Abstract 4048 Poster Board III-983 Introduction Iron deficiency is the most common nutritional disorder in the world with an estimated two billion affected persons. Although commonly considered environmental in origin, the existence of multiple genetic disorders of iron metabolism in man, rodents and other vertebrates suggest a genetic contribution to iron deficiency. Methods: The Hemochromatosis and Iron Overload Screening (HEIRS) Study is a multi-center, multi-ethnic study in which transferrin saturation (TS), serum ferritin (SF), and HFE mutations were determined in 101,168 adults.

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Li-Gao, Ruifang, Salma M. Wakil, Brian F. Meyer, Nduna Dzimiri, and Dennis O. Mook-Kanamori. "Replication of Type 2 diabetes-associated variants in a Saudi Arabian population." Physiological Genomics 50, no. 4 (2018): 296–97. http://dx.doi.org/10.1152/physiolgenomics.00100.2017.

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Over 120 Type 2 diabetes (T2D) loci have been identified from genome-wide association studies (GWAS), mainly from Caucasian populations. Very limited knowledge is available on the Saudi Arabian population. In this study, 122 previously reported T2D-related variants from 84 loci were examined in a Saudi Arabian cohort of 1,578 individuals (659 T2D cases and 919 controls). Eleven single nucleotide polymorphisms (SNPs) corresponding to nine independent loci had a P value <0.05. If a more stringent Bonferroni threshold of P = 4.1 × 10−4 ( = 0.05/122) were applied, none of the SNPs would have re

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Márquez, Ana, Laura Vidal-Bralo, Luis Rodríguez-Rodríguez, et al. "A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus." Annals of the Rheumatic Diseases 76, no. 1 (2016): 286–94. http://dx.doi.org/10.1136/annrheumdis-2016-209436.

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ObjectivesDuring the last years, genome-wide association studies (GWASs) have identified a number of common genetic risk factors for rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). However, the genetic overlap between these two immune-mediated diseases has not been thoroughly examined so far. The aim of the present study was to identify additional risk loci shared between RA and SLE.MethodsWe performed a large-scale meta-analysis of GWAS data from RA (3911 cases and 4083 controls) and SLE (2237 cases and 6315 controls). The top-associated polymorphisms in the discovery phase

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Pastor, P. "Genetic heterogeneity in Parkinson disease: The meaning of GWAS and replication studies." Neurology 79, no. 7 (2012): 619–20. http://dx.doi.org/10.1212/wnl.0b013e318264e3d2.

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Albertsen, H., R. Chettier, P. Farrington, and K. Ward. "Replication of endometriosis GWAS signal across multiple studies support involvement of WNT4." Fertility and Sterility 98, no. 3 (2012): S220. http://dx.doi.org/10.1016/j.fertnstert.2012.07.1153.

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Montgomery, Grant W. "Commentary: lessons from molecular genetic studies on reporting false-positive results." Reproduction, Fertility and Development 32, no. 16 (2020): 1298. http://dx.doi.org/10.1071/rd20281.

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Poor replication of published research results is the subject of debate. A common problem is the failure to adequately account for multiple testing issues. In this regard, the evolution of mapping studies to identify genetic risk factors for common diseases has been instructive. Large genome-wide association studies (GWAS) reliably detect the genetic factors with small effects that contribute to risk for many common diseases. GWAS superseded candidate gene studies from the previous decade and looking back, almost no genetic risk factors reported from earlier candidate gene studies replicate in

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Ebejer, Jane L., David L. Duffy, Julius van der Werf, et al. "Genome-Wide Association Study of Inattention and Hyperactivity–Impulsivity Measured as Quantitative Traits." Twin Research and Human Genetics 16, no. 2 (2013): 560–74. http://dx.doi.org/10.1017/thg.2013.12.

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Genome-wide association studies (GWAS) of attention-deficit/hyperactivity disorder (ADHD) offer the benefit of a hypothesis-free approach to measuring the quantitative effect of genetic variants on affection status. Generally the findings of GWAS relying on ADHD status have been non-significant, but the one study using quantitative measures of symptoms found SLC9A9 and SLC6A1 were associated with inattention and hyperactivity–impulsivity. Accordingly, we performed a GWAS using quantitative measures of each ADHD subtype measured with the Strengths and Weaknesses of ADHD and Normal Behaviour (SW

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Kazantseva, A. V., Yu D. Davydova, R. F. Enikeeva, et al. "Replication Study of GWAS-Associated Variants in the <i>TUFM</i>, <i>SH2B1</i>, <i>ZNF638</i>, <i>NEGR1</i>, <i>ATP2A1</i>, <i>EXOC4</i>, and <i>CSE1L</i> Genes and Cognitive Abilities." Генетика 59, no. 9 (2023): 1059–69. http://dx.doi.org/10.31857/s0016675823090060.

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To date, a large number of genome-wide association analyses (GWAS) of cognitive abilities (i.e. intelligence, educational level, executive functions, etc.) have been conducted in European populations. A replication analysis of GWAS-associated variants of the general factor of intelligence in the development of spatial (3D) abilities in the individuals from Russia is relevant. In order to estimate the main effect of the most significant GWAS loci on spatial abilities in the Russian cohort (N = 1011, 18–25 years old) a set of seven “top” SNPs (p 10–13) was formed: TUFM rs7187776, SH2B1 rs7198606

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Myung, W., J. Kim, S.-W. Lim, et al. "A genome-wide association study of antidepressant response in Koreans." Translational Psychiatry 5, no. 9 (2015): e633-e633. http://dx.doi.org/10.1038/tp.2015.127.

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Abstract We conducted a three-stage genome-wide association study (GWAS) of response to antidepressant drugs in an ethnically homogeneous sample of Korean patients in untreated episodes of nonpsychotic unipolar depression, mostly of mature onset. Strict quality control was maintained in case selection, diagnosis, verification of adherence and outcome assessments. Analyzed cases completed 6 weeks of treatment with adequate plasma drug concentrations. The overall successful completion rate was 85.5%. Four candidate single-nucleotide polymorphisms (SNPs) on three chromosomes were identified by ge

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Mbarek, Hamdi, Yuri Milaneschi, Jouke-Jan Hottenga, et al. "Genome-Wide Significance for PCLO as a Gene for Major Depressive Disorder." Twin Research and Human Genetics 20, no. 4 (2017): 267–70. http://dx.doi.org/10.1017/thg.2017.30.

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In 2009, the first genome-wide association study (GWAS) for major depressive disorder (MDD) highlighted an association with PCLO locus on chromosome 7, although not reaching genome-wide significance level. In the present study, we revisited the original GWAS after increasing the overall sample size and the number of interrogated SNPs. In an analysis comparing 1,942 cases with lifetime diagnosis of MDD and 4,565 controls, PCLO showed a genome-wide significant association with MDD at SNP (rs2715157, p = 2.91 × 10−8) and gene-based (p = 1.48 × 10−7) level. Our results confirm the potential role o

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Heilbronner, U. "Genetic Predictors of Lithium Response." V.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY, no. 4-1 (December 9, 2019): 26–27. http://dx.doi.org/10.31363/2313-7053-2019-4-1-26-27.

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Lithium remains a first-line pharmacological treatment of bipolar disorder (BD). However, treatment response is heterogeneous, with several lines of evidence implicating genetic factors. Unfortunately, neither hypothesis-driven approaches nor initial genome-wide association studies (GWAS) were successful in identifying genetic drivers of response heterogeneity, probably due to low statistical power and different phenotype measurements. Recently, a GWAS of the Consortium of Lithium Genetics (ConLiGen) has identified four single nucleotide polymorphisms (SNPs) mediating response to lithium, loca

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Hishida, Asahi, Tomotaka Ugai, Ryosuke Fujii, et al. "GWAS analysis reveals a significant contribution of PSCA to the risk of Heliobacter pylori-induced gastric atrophy." Carcinogenesis 40, no. 5 (2019): 661–68. http://dx.doi.org/10.1093/carcin/bgz016.

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Abstract Although recent genome-wide association studies (GWASs) have identified genetic variants associated with Helicobacter pylori (HP)-induced gastric cancer, few studies have examined the genetic traits associated with the risk of HP-induced gastric precancerous conditions. This study aimed to elucidate genetic variants associated with these conditions using a genome-wide approach. Data from four sites of the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study were used in the discovery phase (Stage I); two datasets from the Hospital-based Epidemiologic Research Program at Aichi

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Chen, Shih-Pin, Jong-Ling Fuh, Ming-Yi Chung, et al. "Genome-wide association study identifies novel susceptibility loci for migraine in Han Chinese resided in Taiwan." Cephalalgia 38, no. 3 (2017): 466–75. http://dx.doi.org/10.1177/0333102417695105.

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Background Susceptibility genes for migraine, despite it being a highly prevalent and disabling neurological disorder, have not been analyzed in Asians by genome-wide association study (GWAS). Methods We conducted a two-stage case-control GWAS to identify susceptibility genes for migraine without aura in Han Chinese residing in Taiwan. In the discovery stage, we genotyped 1005 clinic-based Taiwanese migraine patients and 1053 population-based sex-matched controls using Axiom Genome-Wide CHB Array. In the replication stage, we genotyped 27 single-nucleotide polymorphisms with p < 10−4 in 112

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Fitzgerald, Joan, Laura Fahey, Laurena Holleran, Pilib Ó Broin, Gary Donohoe, and Derek W. Morris. "Thirteen Independent Genetic Loci Associated with Preserved Processing Speed in a Study of Cognitive Resilience in 330,097 Individuals in the UK Biobank." Genes 13, no. 1 (2022): 122. http://dx.doi.org/10.3390/genes13010122.

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Cognitive resilience is the ability to withstand the negative effects of stress on cognitive functioning and is important for maintaining quality of life while aging. The UK Biobank does not have measurements of the same cognitive phenotype at distal time points. Therefore, we used education years (EY) as a proxy phenotype for past cognitive performance and current cognitive performance was based on processing speed. This represented an average time span of 40 years between past and current cognitive performance in 330,097 individuals. A confounding factor was that EY is highly polygenic and m

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Zhao, Jianhua, and Struan F. A. Grant. "Genetics of Childhood Obesity." Journal of Obesity 2011 (2011): 1–9. http://dx.doi.org/10.1155/2011/845148.

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Obesity is a major health problem and an immense economic burden on the health care systems both in the United States and the rest of the world. The prevalence of obesity in children and adults in the United States has increased dramatically over the past decade. Besides environmental factors, genetic factors are known to play an important role in the pathogenesis of obesity. Genome-wide association studies (GWAS) have revealed strongly associated genomic variants associated with most common disorders; indeed there is general consensus on these findings from generally positive replication outc

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Ohka, Seii, Souichi Yamada, Daisuke Nishizawa, et al. "Heparan sulfate 3-O-sulfotransferase 4 is genetically associated with herpes zoster and enhances varicella-zoster virus–mediated fusogenic activity." Molecular Pain 17 (January 2021): 174480692110521. http://dx.doi.org/10.1177/17448069211052171.

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Acute pain that is associated with herpes zoster (HZ) can become long-lasting neuropathic pain, known as chronic post-herpetic neuralgia (PHN), especially in the elderly. HZ is caused by the reactivation of latent varicella-zoster virus (VZV), whereas PHN is not attributed to ongoing viral replication. Although VZV infection reportedly induces neuronal cell fusion in humans, the pathogenesis of PHN is not fully understood. A genome-wide association study (GWAS) revealed significant associations between PHN and the rs12596324 single-nucleotide polymorphism (SNP) of the heparan sulfate 3- O-sulf

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Farber, Charles R. "Systems-Level Analysis of Genome-Wide Association Data." G3 Genes|Genomes|Genetics 3, no. 1 (2013): 119–29. http://dx.doi.org/10.1534/g3.112.004788.

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Abstract Genome-wide association studies (GWAS) have emerged as the method of choice for identifying common variants affecting complex disease. In a GWAS, particular attention is placed, for obvious reasons, on single-nucleotide polymorphisms (SNPs) that exceed stringent genome-wide significance thresholds. However, it is expected that many SNPs with only nominal evidence of association (e.g., P &lt; 0.05) truly influence disease. Efforts to extract additional biological information from entire GWAS datasets have primarily focused on pathway-enrichment analyses. However, these methods suff

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Kawamura, Yusuke, Hirofumi Nakaoka, Akiyoshi Nakayama, et al. "Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout." Annals of the Rheumatic Diseases 78, no. 10 (2019): 1430–37. http://dx.doi.org/10.1136/annrheumdis-2019-215521.

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ObjectiveThe first ever genome-wide association study (GWAS) of clinically defined gout cases and asymptomatic hyperuricaemia (AHUA) controls was performed to identify novel gout loci that aggravate AHUA into gout.MethodsWe carried out a GWAS of 945 clinically defined gout cases and 1003 AHUA controls followed by 2 replication studies. In total, 2860 gout cases and 3149 AHUA controls (all Japanese men) were analysed. We also compared the ORs for each locus in the present GWAS (gout vs AHUA) with those in the previous GWAS (gout vs normouricaemia).ResultsThis new approach enabled us to identify

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Hale, Andrew T., Oluwatoyin Akinnusotu, Jing He, et al. "Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy." Neurosurgery 89, no. 3 (2021): 435–42. http://dx.doi.org/10.1093/neuros/nyab184.

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Abstract BACKGROUND Although many clinical risk factors of spastic cerebral palsy (CP) have been identified, the genetic basis of spastic CP is largely unknown. Here, using whole-genome genetic information linked to a deidentified electronic health record (BioVU) with replication in the UK Biobank and FinnGen, we perform the first genome-wide association study (GWAS) for spastic CP. OBJECTIVE To define the genetic basis of spastic CP. METHODS Whole-genome data were obtained using the multi-ethnic genotyping array (MEGA) genotyping array capturing single-nucleotide polymorphisms (SNPs), minor a

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Su, Shaoyong, Haidong Zhu, Xiaojing Xu, et al. "DNA Methylation of the LY86 Gene is Associated With Obesity, Insulin Resistance, and Inflammation." Twin Research and Human Genetics 17, no. 3 (2014): 183–91. http://dx.doi.org/10.1017/thg.2014.22.

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Background: Previous genome-wide association studies (GWAS) have identified a large number of genetic variants for obesity and its related traits, representing a group of potential key genes in the etiology of obesity. Emerging evidence suggests that epigenetics may play an important role in obesity. It has not been explored whether the GWAS-identified loci contribute to obesity through epigenetics (e.g., DNA (deoxyribonucleic acid) methylation) in addition to genetics. Method: A multi-stage cross-sectional study was designed. We did a literature search and identified 117 genes discovered by G

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Antypa, N., A. Drago, and A. Serretti. "Genomewide interaction and enrichment analysis on antidepressant response." Psychological Medicine 44, no. 4 (2013): 753–65. http://dx.doi.org/10.1017/s0033291713001554.

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BackgroundGenomewide association studies (GWASs) on antidepressant efficacy have yielded modest results. A possible reason is that response is influenced by other factors, which possibly interact with genetic variation. We used a GWAS model to predict antidepressant response, by including predictors previously known to affect response, such as quality of life (QoL). We also evaluated the association between genes, previously implicated in gene–environment (G × E) interactions, and response using an enrichment analysis.MethodWe examined a sample of 1426 depressed patients from the Sequenced Tre

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van Rooij, Iris ALM, Kerstin U. Ludwig, Julia Welzenbach, et al. "Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene." Genes 10, no. 12 (2019): 1023. http://dx.doi.org/10.3390/genes10121023.

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Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromo

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Kakuta, Yoichi, Yosuke Kawai, Takeo Naito, et al. "A Genome-wide Association Study Identifying RAP1A as a Novel Susceptibility Gene for Crohn’s Disease in Japanese Individuals." Journal of Crohn's and Colitis 13, no. 5 (2018): 648–58. http://dx.doi.org/10.1093/ecco-jcc/jjy197.

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Abstract Background and Aims Genome-wide association studies [GWASs] of European populations have identified numerous susceptibility loci for Crohn’s disease [CD]. Susceptibility genes differ by ethnicity, however, so GWASs specific for Asian populations are required. This study aimed to clarify the Japanese-specific genetic background for CD by a GWAS using the Japonica array [JPA] and subsequent imputation with the 1KJPN reference panel. Methods Two independent Japanese case/control sets (Tohoku region [379 CD patients, 1621 controls] and Kyushu region [334 CD patients, 462 controls]) were i

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Rikos, Dimitrios, Vasileios Siokas, Tatyana I. Burykina, Nikolaos Drakoulis, Efthimios Dardiotis, and Elias Zintzaras. "Replication of chromosomal loci involved in Parkinson’s disease: A quantitative synthesis of GWAS." Toxicology Reports 8 (2021): 1762–68. http://dx.doi.org/10.1016/j.toxrep.2021.10.008.

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Wang, Yunpeng, Wesley K. Thompson, Andrew J. Schork, et al. "Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS." PLOS Genetics 12, no. 1 (2016): e1005803. http://dx.doi.org/10.1371/journal.pgen.1005803.

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Cheon, Eun Jeong, Do Hyeon Cha, Sung Kweon Cho, et al. "Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery." Atherosclerosis 273 (June 2018): 21–27. http://dx.doi.org/10.1016/j.atherosclerosis.2018.04.011.

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Chan, W. C., T. F. Leung, H. Y. Sy, et al. "GWAS replication identifies PROC to be a novel candidate gene for childhood asthma." Paediatric Respiratory Reviews 13 (June 2012): S46. http://dx.doi.org/10.1016/s1526-0542(12)70049-0.

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Pharoah, Paul D. P., Ya-Yu Tsai, Susan J. Ramus, et al. "GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer." Nature Genetics 45, no. 4 (2013): 362–70. http://dx.doi.org/10.1038/ng.2564.

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Torrico, Bàrbara, Andreas G. Chiocchetti, Elena Bacchelli, et al. "Lack of replication of previous autism spectrum disorder GWAS hits in European populations." Autism Research 10, no. 2 (2016): 202–11. http://dx.doi.org/10.1002/aur.1662.

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