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Strategies for identifying the genetic basis of dyslipidemia: genome-wide association studies vs. the resequencing of extremes

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kevinlin2009 添加于 2010-03-01 22:24 135 次阅读 | 0 个评论收藏到我的文库| 导出该文献

作者
Khor CC, Goh DL
摘要
PURPOSE OF REVIEW: Genome-wide association studies (GWASs) and the resequencing of extremes are two methods currently being used to identify the causative variants in dyslipidemia. RECENT FINDINGS: GWASs are high-throughput, array-based platforms. They are nonhypothesis-based and scan within and across many genes. Associated variants identified via GWAS are likely to be common, have modest effect sizes, and are more likely to be a disease marker rather than the true causative variant. Currently, GWAS-identified variants explain only a small amount of heritability associated with dyslipidemia.Resequencing of extremes involves deep sequencing of two groups of individuals, one at each extreme of the phenotype. It is usually used to evaluate genomic regions with a high prior index of suspicion (e.g. genes underlying strong linkage peaks). The associations detected are more likely to reflect causative variants of larger effect size than GWAS-identified variants. The proportion of heritability associated with dyslipidemia explained by rare variants is currently unknown. SUMMARY: Both methods have identified variants that are associated with dyslipidemia and will continue to be used as they play complementary roles.
详细资料
- 文献种类: Journal Article
- 期刊名称: Current Opinion in Lipidology
- 期刊缩写: Curr Opin Lipidol
- 期卷页: 2010年
- 地址: aGenome Institute of Singapore, A*STAR, Singapore bDepartment of Paediatrics, National University of Singapore, Singapore cDepartment of Paediatrics, National University Hospital, Singapore, Singapore
- ISBN: 0957-9672
- 备注:PMID:20125008
学科领域生物医药 » 基础医学
标签
GWAS Review
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