Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies
Article first published online: 15 SEP 2011
© 2011 Wiley Periodicals, Inc.
Volume 35, Issue 8, pages 790–799, December 2011
How to Cite
Li, D., Lewinger, J. P., Gauderman, W. J., Murcray, C. E. and Conti, D. (2011), Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies. Genet. Epidemiol., 35: 790–799. doi: 10.1002/gepi.20628
- Issue published online: 23 NOV 2011
- Article first published online: 15 SEP 2011
- Manuscript Accepted: 22 JUL 2011
- Manuscript Revised: 17 JUL 2011
- Manuscript Received: 3 JAN 2011
- National Institute on Drug Abuse. Grant Numbers: DA020830, CA084735
- National Institute of Environmental Health Sciences. Grant Numbers: ES015090, GM069890
- National Human Genome Research Institute. Grant Number: U01HG005927
- 2010. Rare variant association analysis methods for complex traits. Annu Rev Genet 44:293–308. , .
- 2010. Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 11:773–785. , , , .
- 2008. GenBank. Nucleic Acids Res 36:D25–30. , , , , .
- 2005. Linkage disequilibrium mapping of quantitative-trait loci by selective genotyping. Am J Hum Genet 77:661–669. , , , .
- Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure; National Heart, Lung, and Blood Institute; National High Blood Pressure Education Program Coordinating Committee. 2003. Seventh report of the joint national committee on prevention, detection, evaluation, and treatment of high blood pressure. Hypertension 42:1206–1252. , , , , , , , , , , ,
- 2010. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11:415–425. , .
- Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. 2003. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 26:S5–S20.
- 2009. Human genetic variation and its contribution to complex traits. Nat Rev Genet 10:241–251. , , , .
- 2006. QUANTO 1.1: a computer program for power and sample size calculations for genetic-epidemiology studies. http://hydra.usc.edu/gxe. , .
- 1997. Genome screening using extremely discordant and extremely concordant sib pairs. Genet Epidemiol 14:791–796. , , .
- 2010. A catalog of published genome-wide association studies. www.genome.gov/gwastudies. Accessed December. , , , , .
- 2007. Efficient association mapping of quantitative trait loci with selective genotyping. Am J Hum Genet 80:567–576. , .
- 2009. Validating, augmenting and refining genome-wide association signals. Nat Rev Genet 10:318–329. , , .
- 2008. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40:592–599. , , , , , , , , , .
- 1970. Continuous Univariate Distributions-1. San Francisco: Wiley. , .
- 1953. Sequential minimax search for a maximum. Proc Am Math Soc 4:502–506. .
- Enriching the gold dust: EPS in the post GWAS era. 18th IGES Annual Meeting, Hawaii (Abstract). , . 2009.
- 2008. Methods for detecting associations with rare variants for common diseases:application to analysis of sequence data. Am J Hum Genet 83:311–321. , .
- 2000. A unified sampling approach for multipoint analysis of qualitative and quantitative traits in sib pairs. Am J Hum Genet 66:1631–1641. , , .
- 2010. Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population. BMC Med Genet 11:97–102. , , , , , , , , , , , , , , , , , , , , .
- 2009. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 5:e1000384. , .
- 2008. Personal genomes: the case of the missing heritability. Nature 456:18–21. .
- 2008. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9:356–369. , , , , , , .
- 2009. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324:387–389. , , , , .
- 2008. Genetic variation in an individual human exome. PLoS Genet 4:e1000160. , , , , , , , , , .
- 2010. Genetic and functional analyses of aldosterone synthase gene C-344T polymorphism with essential hypertension. Genetic and functional analyses of aldosterone synthase gene C-344T polymorphism with essential hypertension. J Hum Hypertens 24:427–429. , , , , .
- 2005. UK Biobank: from concept to reality. Pharmacogenomics 6:639–646. , , .
- 2008. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 82:188–193. , , , , , , , , , , , .
- 2001. On the allelic spectrum of human disease. Trends Genet 17:502–510. , .
- 1995. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 268:1584–1589. , .
- 2004. Children's Health Study. Early-life environmental risk factors for asthma: findings from the Children's Health Study. Environ Health Perspect 112:760–765. , , .
- 2010. Role of genetic variation in the cannabinoid type 1 receptor gene (CNR1) in the pathophysiology of human obesity. Pharmacogenomics 11:693–702. , , , , , , , , , , , , , , .
- 2006. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38: 209–213. , , , .
- 1999. Disequilibrium mapping of a quantitative-trait locus in an expanding population. Am J Hum Genet 64:1765–1773. .
- 2009. On semiparametric efficient inference for two-stage outcome-dependent sampling with a continuous outcome. Biometrika 96:221–228. , , .
- 2006. Improved power offered by a score test for linkage disequilibrium mapping of quantitative-trait loci by selective genotyping. Am J Hum Genet 78:498–504. , , .
- 2009. Power of selective genotyping in genome-wide association studies of quantitative traits. BMC Proc 3:S23. , .
- 2006. Assessment of the genetic component of hypertension. Am J Hypertens 19:1158–1165. , , , , , , , , , , , .
- 2010. Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet 87:604–617. , , , , , .
- 2011. Statistical inference for a two-stage outcome-dependent sampling design with a continuous outcome. Biometrics 67:194–202. , , , .