Relevant bibliographies by topics / Common genetic variants

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Common genetic variants'

Author: Grafiati
Published: 4 June 2021
Last updated: 2 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Common genetic variants.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Common genetic variants"

1

Vandersteen, Joshua G., Pinar Bayrak-Toydemir, Robert A. Palais, and Carl T. Wittwer. "Identifying Common Genetic Variants by High-Resolution Melting." Clinical Chemistry 53, no. 7 (2007): 1191–98. http://dx.doi.org/10.1373/clinchem.2007.085407.

Full text
Abstract:
Abstract Background: Heteroduplex scanning techniques usually detect all heterozygotes, including common variants not of clinical interest. Methods: We conducted high-resolution melting analysis on the 24 exons of the ACVRL1 and ENG genes implicated in hereditary hemorrhagic telangiectasia (HHT). DNA in samples from 13 controls and 19 patients was PCR amplified in the presence of LCGreen® I, and all 768 exons melted in an HR-1® instrument. We used 10 wild-type controls to identify common variants, and the remaining samples were blinded, amplified, and analyzed by melting curve normalization an
APA, Harvard, Vancouver, ISO, and other styles
2

Navrady, Lauren B., Yanni Zeng, Toni-Kim Clarke, et al. "Genetic and environmental contributions to psychological resilience and coping." Wellcome Open Research 3 (February 15, 2018): 12. http://dx.doi.org/10.12688/wellcomeopenres.13854.1.

Full text
Abstract:
Background: Twin studies indicate that genetic and environmental factors contribute to both psychological resilience and coping style, but estimates of their relative molecular and shared environmental contributions are limited. The degree of overlap in the genetic architectures of these traits is also unclear. Methods: Using data from a large population- and family-based cohort Generation Scotland (N = 8,734), we estimated the genetic and shared environmental variance components for resilience, task-, emotion-, and avoidance-oriented coping style in a linear mixed model (LMM). Bivariate LMM a
APA, Harvard, Vancouver, ISO, and other styles
3

MOON, MARY ANN. "Common Genetic Variants Linked to Barrett's Esophagus." Internal Medicine News 45, no. 16 (2012): 35. http://dx.doi.org/10.1016/s1097-8690(12)70718-7.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Gu, Sue, Rahul Kumar, Michael H. Lee, Claudia Mickael, and Brian B. Graham. "Common genetic variants in pulmonary arterial hypertension." Lancet Respiratory Medicine 7, no. 3 (2019): 190–91. http://dx.doi.org/10.1016/s2213-2600(18)30448-x.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

George, Alfred L. "Common genetic variants in sudden cardiac death." Heart Rhythm 6, no. 11 (2009): S3—S9. http://dx.doi.org/10.1016/j.hrthm.2009.08.024.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Galton, D. J., J. Thorn, R. Mattu, E. Needham, and J. Stocks. "Common genetic variants relating to familial hypertriglyceridaemia." Fresenius' Journal of Analytical Chemistry 343, no. 1 (1992): 35. http://dx.doi.org/10.1007/bf00331975.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Schmit, Stephanie L., Christopher K. Edlund, Fredrick R. Schumacher, et al. "Novel Common Genetic Susceptibility Loci for Colorectal Cancer." JNCI: Journal of the National Cancer Institute 111, no. 2 (2018): 146–57. http://dx.doi.org/10.1093/jnci/djy099.

Full text
Abstract:
Abstract Background Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10−8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery of additional susceptibility loci may capture unexplained familial risk. Methods We conducted a GWAS in European descent CRC cases and control subjects using a discovery–replication design, followed by examination of novel findings in a multiethnic sample (cumulative n = 163 315). In the discovery stage (36 948 case subjects/30 864 control subjects), we identified genetic variants wi
APA, Harvard, Vancouver, ISO, and other styles
8

Szolnoki, Zoltan. "Evaluation of Common Unfavourable Genetic Variants in Cerebrovascular Diseases: Recommendation for Supportive Genetic Examinations and Methodological Approaches for Common Genetic Variants." Current Medicinal Chemistry 16, no. 24 (2009): 3168–73. http://dx.doi.org/10.2174/092986709788803006.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Biondi, G., V. Calabró, S. Colonna-Romano, et al. "Common and rare genetic variants of human red blood cell enzymes in ltaly." Anthropologischer Anzeiger 47, no. 2 (1989): 155–74. http://dx.doi.org/10.1127/anthranz/47/1989/155.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Bobbili, Dheeraj Reddy, Peter Banda, Rejko Krüger, and Patrick May. "Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk." Journal of Medical Genetics 57, no. 9 (2020): 617–23. http://dx.doi.org/10.1136/jmedgenet-2019-106316.

Full text
Abstract:
BackgroundParkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple variants associated with sporadic PD were discovered via association studies.MethodsWe studied the whole-exome sequencing data of 340 PD cases and 146 ethnically matched controls from the Parkinson’s Progression Markers Initiative (PPMI) and performed burden analysis for different rare variant classes. Disease prediction models were built based on clinical, non-clinical and genetic features, including
APA, Harvard, Vancouver, ISO, and other styles
More sources

Dissertations / Theses on the topic "Common genetic variants"

1

Hechter, Eliana. "On genetic variants underlying common disease." Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:d883f20e-7dad-4216-8851-b006993832fd.

Full text
Abstract:
Genome-wide association studies (GWAS) exploit the correlation in ge- netic diversity along chromosomes in order to detect effects on disease risk without having to type causal loci directly. The inevitable downside of this approach is that, when the correlation between the marker and the causal variant is imperfect, the risk associated with carrying the predisposing allele is diluted and its effect is underestimated. This thesis explores four different facets of this risk dilution: (1) estimating true effect sizes from those observed in GWAS; (2) asking how the context of a GWAS, including th
APA, Harvard, Vancouver, ISO, and other styles
2

Weir, Gregory A. "Investigating rare genetic variants in common migraine." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:2aad341d-91fb-4ee8-8c55-ddd81b33247e.

Full text
Abstract:
Migraine is a highly prevalent headache disorder imposing a significant burden of disability on human health worldwide. The headache is believed to arise from activation of trigeminal pain pathways, with CNS regions also playing an integral role in attack initiation and progression. Recent genetic associations have been made, but there is a need to convert these into relevant experimental models to study underlying disease mechanisms. Herein, I detail functional analysis of two deleterious variants in the genes KCNK18 and SLC12A3, that segregate with migraine with aura in one large pedigree. G
APA, Harvard, Vancouver, ISO, and other styles
3

Luedders, Jonathan. "A Review of Common and Rare Genetic Variants in Schizophrenia." VCU Scholars Compass, 2011. http://scholarscompass.vcu.edu/etd/2540.

Full text
Abstract:
Genetic epidemiology has shown a large role for genetic influences on schizophrenia. However, the nature of the variants involved is debated. The common disease-common variant (CDCV) hypothesis suggests that schizophrenia is caused by common alleles with small effect sizes. According to the common disease-rare variant (CDRV) hypothesis, schizophrenia is caused by rare variants with large effect sizes. In recent years, evidence has been found for both common and rare variants in schizophrenia. Several SNPs have been associated with schizophrenia through genome-wide association studies (GWAS), s
APA, Harvard, Vancouver, ISO, and other styles
4

Carere, Deanna Alexis. "Predictive Genetic Testing Using Common Variants: Evidence and Translation." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:16121162.

Full text
Abstract:
Starting with the publication of the first genome-wide association study (GWAS) in 2005, the last decade has seen the identification of thousands of novel genetic susceptibility loci. These common, low-penetrance single nucleotide polymorphisms (SNPs) have been associated with myriad phenotypes, ranging from benign (e.g., skin and hair pigmentation) to medically informative (e.g., risk of Alzheimer’s disease), and, in a few cases, clinically actionable (e.g., genotype-guided dosing of the anti-coagulant warfarin). While the clinical applications of GWAS findings remain limited, the commercial
APA, Harvard, Vancouver, ISO, and other styles
5

Zhao, Jing. "Rare and common genetic variant associations with quantitative human phenotypes." Diss., Georgia Institute of Technology, 2015. http://hdl.handle.net/1853/53923.

Full text
Abstract:
This dissertation aims at investigating the association between genotypes and phenotypes in human. Both common and rare regulatory variants have been studied. The phenotypes include disease risk, clinical traits and gene expression levels. This dissertation describes three different types of association study. The first study investigated the relationship between common variants and three sub-clinical traits as well as three complex diseases in the Center for Health Discovery and Well Being study (CHDWB). The second study is GWAS analysis of TNF-α and BMI/CRP conducted as a contribution to met
APA, Harvard, Vancouver, ISO, and other styles
6

Zhou, Xiaofei. "Bayesian Lasso for Detecting Rare Genetic Variants Associated with Common Diseases." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1563455460578675.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Hastie, Claire E. "Discovering common genetic variants for hypertension using an extreme case-control strategy." Thesis, University of Glasgow, 2011. http://theses.gla.ac.uk/2423/.

Full text
Abstract:
Hypertension is a common, highly heritable trait of complex aetiology. Multiple environmental and lifestyle factors contribute to blood pressure variation. Hence the study of hypertension causality is not straightforward. Genetic linkage studies have implicated a number of loci involved in blood pressure regulation and the development of hypertension. Candidate gene association studies, however, have not reported any reproducible associations. Early genome-wide association studies (GWAS) showed remarkable success in identifying validated common variants associated with common diseases such as
APA, Harvard, Vancouver, ISO, and other styles
8

Hamdi, Yosr. "Evaluation of the association between common genetic variants and breast cancer risk." Doctoral thesis, Université Laval, 2017. http://hdl.handle.net/20.500.11794/28384.

Full text
Abstract:
Le cancer du sein est la néoplasie la plus fréquente chez la femme. Un ensemble de facteurs génétiques et environnementaux sont impliqués dans cette maladie complexe. Dans le cadre de mes études doctorales, je me suis intéressée à la composante génétique associée au risque de cancer du sein chez les femmes dans la population générale ainsi qu’à la modification du risque pour ce cancer chez des porteuses de mutations des gènes BRCA1 et BRCA2. Actuellement, environ la moitié de cette composante génétique est expliquée par une combinaison d'allèles à pénétrance faible, moyenne ou élevée. En outre
APA, Harvard, Vancouver, ISO, and other styles
9

Koch, Oliver. "Common genetic variants of the IFN-γ and IFNGR1 regions : disease associations and functional properties". Thesis, University of Oxford, 2003. http://ora.ox.ac.uk/objects/uuid:30fc15ae-13e5-4150-8093-2582334e75c0.

Full text
Abstract:
There is growing evidence that susceptibility to many inflammatory and infectious diseases may be influenced by our genetic make up. Genetic variants in important immune genes may partially explain variation in susceptibility to common diseases. Interferon-γ (IFNγ) is one of the central mediators of the innate and adaptive immunity and has been implicated in a wide range of infectious and inflammatory disease processes. Severe disruptive mutations in coding regions of the IFN-γ receptor 1 gene (IFNGR1) have been found to be associated with fatal but very rare mycobacterial infections. This stu
APA, Harvard, Vancouver, ISO, and other styles
10

Quaye, L. "Identifying common genetic variants associated with disease risk and clinical outcome in epithelial ovarian cancer." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1310441/.

Full text
Abstract:
Combinations of common germline low-moderate susceptibility alleles may be responsible for some of the 90% of ovarian cancer (OC) cases not explained by known risk genes. These alleles may also affect survival of OC patients. The effects of 34 tagging single nucleotide polymorphisms (tSNPs) from candidate oncogenes (BRAF, ERBB2, KRAS, NMI and PIK3CA) and 63 tSNPs from “functionally” relevant genes (AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1 and STAG3) on the risk and survival of OC sufferers were evaluated with ~1,800 cases and 3,045 controls. Associations were found between dis
APA, Harvard, Vancouver, ISO, and other styles
More sources

Books on the topic "Common genetic variants"

1

Mathiesen, Amber, and Kali Roy. Common Perinatal Genetic Counseling Situations. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190681098.003.0009.

Full text
Abstract:
This chapter highlights common situations in perinatal counseling, including challenging circumstances, complex situations, and ethical dilemmas. It discusses conflicts that may arise from pregnancy termination; the complexities surrounding the identification of incidental findings such as misattributed paternity, discovery of consanguinity, or discovery of an incidental condition; and issues surrounding privacy and confidentiality, including familial implications of genetic knowledge. Also discussed are difficult circumstances such as couples in conflict or nonparticipation of a male partner
APA, Harvard, Vancouver, ISO, and other styles
2

Penney, Kathryn L., Kyriaki Michailidou, Deanna Alexis Carere, et al. Genetic Epidemiology of Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0005.

Full text
Abstract:
Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger
APA, Harvard, Vancouver, ISO, and other styles
3

Charney, Alexander, and Pamela Sklar. Genetics of Schizophrenia and Bipolar Disorder. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0013.

Full text
Abstract:
Schizophrenia and bipolar disorder are the classic psychotic disorders. Both diseases are strongly familial, but have proven recalcitrant to genetic methodologies for identifying the etiology until recently. There is now convincing genetic evidence that indicates a contribution of many DNA changes to the risk of becoming ill. For schizophrenia, there are large contributions of rare copy number variants and common single nucleotide variants, with an overall highly polygenic genetic architecture. For bipolar disorder, the role of copy number variation appears to be much less pronounced. Specific
APA, Harvard, Vancouver, ISO, and other styles
4

Goldman, David, Zhifeng Zhou, and Colin Hodgkinson. The Genetic Basis of Addictive Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0042.

Full text
Abstract:
Addictive disorders are moderately to highly heritable, indicating that alleles transmitted from parents are protective, or enhance risk by whatever mechanisms. However, the inheritance of addictive disorders is complex, involving hundreds of genes and variants that are both common and rare, and that vary in effect size and context of action. Genes altering risk for addictions have been identified by pathway and candidate gene studies in humans and model organisms, and genomic approaches including genome-wide association, meiotic linkage, and sequencing. Genes responsible for shared liability
APA, Harvard, Vancouver, ISO, and other styles
5

Langley, Kate. ADHD genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0003.

Full text
Abstract:
This chapter reviews the evidence suggesting that there is a strong genetic component to ADHD and the efforts to identify the specific genetic factors that might be involved. It discusses the different types of genetic contributions, from common to rare variants, and the evidence that these are involved in the aetiology of the disorder. An overview of the methodological strategies employed, including genome-wide association studies (GWAS), polygenic risk score, and copy number variant (CNV) analyses, is undertaken, as well as discussion of the strengths and pitfalls of such work. The contradic
APA, Harvard, Vancouver, ISO, and other styles
6

Pezzini, Alessandro. Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198722366.003.0011.

Full text
Abstract:
Ischaemic stroke is a heterogeneous multifactorial disorder. Although epidemiological data from twin and family studies provide substantial evidence for a genetic basis for stroke, the contribution of genetic factors identified so far is small. Large progress has been made in single-gene disorders associated with ischaemic stroke, particularly at young age. By contrast, little is known about the genes associated with multifactorial stroke. The reported genome-wide association studies of ischaemic stroke have shown that no single common genetic variant imparts major risk, but data on early-onse
APA, Harvard, Vancouver, ISO, and other styles
7

Bentham, James R. The genetics of congenital heart disease. Edited by José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, et al. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0022.

Full text
Abstract:
Congenital heart disease (CHD) is defined as a structural cardiac malformation resulting from an abnormality of development; 8% of CHD is inherited in a Mendelian fashion and 12% results from chromosomal imbalance. Recurrence risk and new research suggest that even the remaining 80% of patients without an identifiable familial or syndromic basis for disease may have an identifiable genetic cause. The potential to understand these mechanisms is increasing with the advent of new sequencing techniques which have identified multiple or single rare variants and/or copy number variants clustering in
APA, Harvard, Vancouver, ISO, and other styles
8

Zhang, Xuehong, Eunyoung Cho, and Hans-Olov Adami. Kidney Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0023.

Full text
Abstract:
The etiology of kidney cancer remains largely unknown. Cigarette smoking, obesity, and hypertension are well-established risk factors for kidney cancer. Although the current evidence is relatively mixed, other emerging risk factors include use of nonsteroidal anti-inflammatory drugs (NSAIDs), occupational exposure to trichloroethylene, and high parity in women. In contrast, physical activity and alcohol consumption have been consistently inversely associated with risk of kidney cancer. There is no convincing evidence of a causal link with any other specific food items or nutrients. Most kidney
APA, Harvard, Vancouver, ISO, and other styles
9

Cerhan, James R., Claire M. Vajdic, and John J. Spinelli. The Non-Hodgkin Lymphomas. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0040.

Full text
Abstract:
The non-Hodgkin lymphomas (NHL) are a heterogeneous group of over forty lymphoid neoplasms that have undergone a major redefinition over the last twenty-five years, in part due to advances in immunology and genetics as well as implementation of the WHO classification system. NHLs are considered clonal tumors of B-cells, T-cells, or natural killer (NK) cells arrested at various stages of differentiation, regardless of whether they present in the blood (lymphoid leukemia) or lymphoid tissues (lymphoma). In the United States, the age-standardized NHL incidence rate (per 100,000) doubled from 1973
APA, Harvard, Vancouver, ISO, and other styles
10

Chang, Ellen T., and Hans-Olov Adami. Nasopharyngeal Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0008.

Full text
Abstract:
The distinctive global incidence patterns and risk factors for nasopharyngeal carcinoma (NPC) make this a unique malignancy that represents an epidemiologic challenge. NPC is rare throughout most of the world but relatively common in southern China, Southeast Asia, the Arctic, North Africa, and the Middle East. This pattern is determined in part by the geographic and ethnic distribution of established risk factors for NPC, which include early/aberrant Epstein Barr virus infection, Chinese-style salted fish consumption, family history, certain human leukocyte antigen alleles, and tobacco smokin
APA, Harvard, Vancouver, ISO, and other styles
More sources

Book chapters on the topic "Common genetic variants"

1

Dumitrescu, Alexandrina L., and Junya Kobayashi. "Common Guidelines for Association Studies." In Genetic Variants in Periodontal Health and Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-642-00680-7_9.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Bulayeva, Kazima, Oleg Bulayev, and Stephen Glatt. "Common Structural Genomic Variants in Linked with SCZ Regions." In Genomic Architecture of Schizophrenia Across Diverse Genetic Isolates. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-31964-3_5.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Anney, Richard J. L. "Common Genetic Variants in Autism Spectrum Disorders." In The Neuroscience of Autism Spectrum Disorders. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-391924-3.00010-7.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Ramdas, Shweta, and Jun Z. Li. "Next-Generation Sequencing in Genetic Studies of Psychiatric Disorders." In Psychiatric Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190221973.003.0015.

Full text
Abstract:
Next-generation sequencing (NGS) technologies make it possible to efficiently detect DNA variants in either entire genomes or any subsets of the genome, and have dramatically enhanced our ability to search for genetic risk factors of complex psychiatric diseases. While genotyping-based association studies focus on common variants that track extended genomic segments, NGS provides unbiased identification of both common and rare variants, including those that are functionally important but appear in very few families or sporadic cases. Thus NGS directly highlights plausible causal variants, even if such variants are extremely heterogeneous in the population. Meanwhile, such heterogeneity requires new analytical approaches that can aggregate rare variant burden over predefined functional unit such as a gene or a segment of non-coding region with presumed function. Rapid application of NGS technologies also underscored other limits in psychiatric genetics research, including the need for detailed phenotyping and multi-scale integration of diverse data types.
APA, Harvard, Vancouver, ISO, and other styles
5

Purcell, Shaun M. "Genetic Methodologies and Applications." In Neurobiology of Mental Illness, edited by Karl Deisseroth. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199934959.003.0012.

Full text
Abstract:
There have been tremendous advances in the molecular technologies and data-analytic methods at our disposal for studying the genetic bases of complex d diseases and traits. These advances have enabled the creation of comprehensive catalogs of different forms of human genetic variation, as well as large-scale studies focused on specific diseases or traits. This chapter outlines the general principles behind some of these advances and discusses their application to studying complex genetic traits, with a focus on neuropsychiatric disease in particular. Different genetic strategies that are underway in psychiatric genetics include studies of de novo variation in exome sequencing, large deletion and duplication copy number variants, rare and low-frequency variants segregating in populations, and common polymorphisms.
APA, Harvard, Vancouver, ISO, and other styles
6

Swerdlow, Daniel I., Steve E. Humphries, and Michael V. Holmes. "Complex cardiovascular diseases: dyslipidaemias—genetic factors." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0164.

Full text
Abstract:
The genetics of rare familial hyperlipidaemias have been studied for many years, but the last decade has seen major advances in our understanding of the genetics of common dyslipidaemias. These developments have largely been propelled by the rapid innovations in genotyping and phenotyping technologies. Genome-wide association, whole exome sequencing, and whole genome sequencing studies have identified a large number of genetic loci involved in lipid metabolism. Large-scale meta-analyses have included over 150,000 individuals, increasing statistical power to identify rarer variants, and common variants with smaller phenotypic effects. Furthermore, advances in phenotyping such as nuclear magnetic resonance-based lipidomics have facilitated finer mapping of circulating lipids and lipoproteins. Capitalizing on the findings from these large-scale studies, genetic analyses using the Mendelian randomization principle have been used successfully to explore the causal contributions to heart disease of a range of circulating lipid fractions. Such investigations have confirmed a causal role for low-density lipoprotein cholesterol, suggest a causal role for triglycerides, but cast doubt on that of high-density lipoprotein cholesterol. Furthermore, genetic studies have been shown to have an important application in the validation of novel therapeutic targets for treatment of dyslipidaemias.
APA, Harvard, Vancouver, ISO, and other styles
7

State, Matthew W. "Rare Variant Approaches to Understanding the Causes of Complex Neuropsychiatric Disorders." In Causality and Psychopathology. Oxford University Press, 2011. http://dx.doi.org/10.1093/oso/9780199754649.003.0015.

Full text
Abstract:
The distinction between genetic variation that is present in more than 5% of the population (defined as common) and genetic variation that does not meet this threshold (defined as rare) is often lost in the discussion of psychiatric genetics. As a general proposition, the field has come to equate the hunt for common variants (or alleles) with the search for genes causing or contributing to psychiatric illness. Indeed, the majority of studies on mood disorders, autism, schizophrenia, obsessive–compulsive disorder, attention-deficit/hyperactivity disorder, and Tourette syndrome have restricted their analyses to the potential contribution of common alleles. Studies focusing on rare genetic mutations have, until quite recently, been viewed as outside the mainstream of efforts aimed at elucidating the biological substrates of serious psychopathology. Both the implicit assumption that common alleles underlie the lion’s share of risk for most common neuropsychiatric conditions and the notion that the most expeditious way to elucidate their biological bases will be to concentrate efforts on common alleles deserve careful scrutiny. Indeed, key findings across all of human genetics, including those within psychiatry, support the following alternative conclusions: (1) for disorders such as autism and schizophrenia, the study of rare variants already holds the most immediate promise for defining the molecular and cellular mechanisms of disease (McClellan, Susser, & King, 2007; O’Roak & State, 2008); (2) common variation will be found to carry much more modest risks than previously anticipated (Altshuler & Daly, 2007; Saxena et al., 2007); and (3) rare variation will account for substantial risk for common complex disorders, particularly for neuropsychiatric conditions with relatively early onset and chronic course. This chapter addresses the rare variant genetic approach specifically with respect to mental illness. It first introduces the distinction between the key characteristics of common and rare genetic variation. It then briefly addresses the methodologies employed to demonstrate a causal or contributory role for genes in complex disease, focusing on how these approaches differ in terms of the ability to detect and confirm the role of rare variation.
APA, Harvard, Vancouver, ISO, and other styles
8

Andlauer, Till F. M., Bertram Müller-Myhsok, and Stephan Ripke. "Statistical Genetics." In Psychiatric Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190221973.003.0004.

Full text
Abstract:
Over more than the last decade, hypothesis-free genome-wide association studies (GWAS) have been widely used to detect genetic factors influencing phenotypes of interest. The basic principle of GWAS has been unchanged since the beginning: a series of univariate tests is conducted on all genetic variants available across the genome. We present study designs and commonly used methods for genome-wide studies, with a focus on the analysis of common variants. The basic concepts required for an application of GWAS in psychiatric genetics are introduced, from power calculation to meta-analysis. This chapter will help the reader in gaining the knowledge required for participation in and realization of GWAS of both qualitative and quantitative traits.
APA, Harvard, Vancouver, ISO, and other styles
9

Rijsdijk, Frühling, and Pak Sham. "Genetic epidemiology 1: behavioural genetics." In Practical Psychiatric Epidemiology. Oxford University Press, 2003. http://dx.doi.org/10.1093/med/9780198515517.003.0017.

Full text
Abstract:
Behavioural genetics is the study of the genetic basis of behavioural traits including both psychiatric disorders and ‘normal’ personality dimensions. Behavioural genetics derives its theoretical basis from population genetics. Soon after the laws of Mendelian inheritance were re-discovered in 1900, the implications of these laws on the genetic properties of populations were worked out. Such properties include segregation ratios, genotypic frequencies in random mating populations, the effect of population structure and systems of mating, the impact of selection, the partitioning of genetic variance, and the genetic correlation between relatives. Some appreciation of population genetics is necessary for a deep understanding of behavioural genetics. Because of the complexity of behavioural traits, genetic factors cannot be regarded in isolation, or as static. Instead, it is important to consider: (i) the relative contributions of genetic and environmental factors, (ii) the interplay between genetic and environmental factors, and (iii) the changing role of genetic factors in different stages of development from infancy to old age. The major study designs in behavioural genetics will be discussed in this chapter, namely family studies, twin studies, and adoption studies. Behavioural genetics, augmented by molecular genetics has the potential to identify specific genetic variants which influence behaviour. This will be considered in detail in Chapter 14. Mendelian inheritance Gregor Mendel first demonstrated the genetic basis of biological inheritance by studies of simple all-or-none traits in the garden pea. These traits were particularly revealing because they were completely determined by the genotype at a single chromosomal locus. Diseases caused by genetic mutation at a single locus are commonly called Mendelian or single-gene disorders. A dominant disorder is expressed when an individual has one or two copies of the mutant allele, whereas a recessive disorder is expressed only when both alleles at the locus are the mutant variant. Examples of Mendelian disorders of clinical significance in psychiatry are Huntington's disease and fragile X syndrome. Mendelian disorders tend to be relatively rare because they are usually subjected to severe negative selective pressure, due to their increased mortality. Most common disorders and continuous traits of interest in psychiatry have an aetiology involving multiple genetic and environmental factors. Categorical and dimensional traits Behavioural genetics is rooted in both psychiatry and psychology. Psychiatrists traditionally adopt a medical model where diseases are defined as categorical entities and diagnoses are either present or absent. Psychologists on the other hand prefer quantitative measures of cognitive ability, personality and other traits. The methodology of behavioural genetics research reflects this duality, although there is a trend to integrate the two approaches, especially for traits such as anxiety and depression where both diagnostic criteria and quantitative measures exist.
APA, Harvard, Vancouver, ISO, and other styles
10

Lee, Sanghoo, Jinwoo Ahn, Jimyeong Park, et al. "Genetic Diversity of Insulin Resistance and Metabolic Syndrome." In Genetic Diversity [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.93906.

Full text
Abstract:
A key in the etiology of a cluster of metabolic syndrome such as hyperglycemia, dyslipidemia, and obesity is known for insulin resistance, which is becoming a major global public health problem. Extensive studies have revealed many genetic factors for both insulin resistance and the components of metabolic syndrome. Advanced modern genotyping methods including genome-wide association studies and next-generation sequencing have allowed for the identification of both common and rare genetic variants related to these chronic disease-associated traits. Multiple genotype–phenotype studies are also needed to identify new and accurate genetic biomarkers in these conditions. The purpose of this chapter is to present genetic variants related to the pathogenesis of metabolic syndrome and insulin resistance and is to review the relevance between insulin resistance and metabolic syndrome clusters in terms of genetic diversity.
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Common genetic variants"

1

Hunter, David J. "Prediction of disease risk using common genetic variants." In AACR International Conference: Molecular Diagnostics in Cancer Therapeutic Development– Sep 27-30, 2010; Denver, CO. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/diag-10-pl5-2.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Wu, Yirong, Craig K. Abbey, Jie Liu, et al. "Discriminatory power of common genetic variants in personalized breast cancer diagnosis." In SPIE Medical Imaging, edited by Craig K. Abbey and Matthew A. Kupinski. SPIE, 2016. http://dx.doi.org/10.1117/12.2217030.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Du, Mengmeng, Shuo Jiao, Stephanie A. Rosse, et al. "Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-2190.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Bae, Sunghwan, and Taesung Park. "Risk prediction using common and rare genetic variants: Application to Type 2 diabetes." In 2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2017. http://dx.doi.org/10.1109/bibm.2017.8217926.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Kohaar, Indu, Lakshmi Ravindranath, Denise Young, et al. "Abstract 1290: Association of common genetic variants withTMPRSS2 ERGfusion status in prostate cancer." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-1290.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Furusawa, H., J. H. Cardwell, A. L. Peljto, et al. "Common Idiopathic Pulmonary Fibrosis (IPF) Genetic Variants Are Associated with Chronic Hypersensitivity Pneumonitis (CHP)." In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3143.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Qian, Li, and David Ben-Arieh. "Joint Pricing and Platform Configuration in Product Family Design With Genetic Algorithm." In ASME 2009 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2009. http://dx.doi.org/10.1115/detc2009-86110.

Full text
Abstract:
Manufacturers add numerous product variants to address different customer preferences for mass customization. One approach to implement the mass customization is to develop or produce products based on the platform architecture. A platform is a set of common components, modules or parts shared by product variants in one product family. One product variant makes use of the platform as the starting point and then add or remove components to change features of the product. The problem of determining the platform configuration is considered as maximizing the overall profit under the price-dependen
APA, Harvard, Vancouver, ISO, and other styles
8

Glavan, Bradford J., Thomas R. Martin, Debbie Nickerson, et al. "Common Genetic Variants In The Fas/FasL Pathway Modify The Risk Of Acute Lung Injury." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a2706.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Sung, Hyuna, Howard H. Yang, Han Zhang, et al. "Abstract 4622: Common genetic variants in epigenetic machinery genes and risk of upper gastrointestinal cancers." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-4622.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

Smatti, Maria K., Yasser Al-Sarraj, Omar Albagha, and Hadi M. Yassine. "Host Genetic Variants Potentially Associated with SARS-Cov-2: A Multi-Population Analysis." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0298.

Full text
Abstract:
Background: Clinical outcomes of Coronavirus Disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) showed enormous inter-individual and interpopulation differences, possibly due to host genetics differences. Earlier studies identified single nucleotide polymorphisms (SNPs) associated with SARS-CoV-1 in Eastern Asian (EAS) populations. In this report, we aimed at exploring the frequency of a set of genetic polymorphisms that could affect SARS-CoV-2 susceptibility or severity, including those that were previously associated with SARS-CoV-1. Methods:
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the extended bibliographies on the topic 'Common genetic variants' for particular source types:
Journal articles Dissertations / Theses Books
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography