title: Capability of common SNPs to tag rare variants.
abstract: Genome-wide association studies are based on the linkage disequilibrium pattern between common tagging single-nucleotide polymorphisms (SNPs) (i.e., SNPs having only common alleles) and true causal variants, and association studies with rare SNP alleles aim to detect rare causal variants. To better understand and explain the findings from both types of studies and to provide clues to improve the power of an association study with only common SNPs genotyped, we study the correlation between common SNPs and the presence of rare alleles within a region in the genome and look at the capability of common SNPs in strong linkage disequilibrium with each other to capture single rare alleles. Our results indicate that common SNPs can, to some extent, tag the presence of rare alleles and that including SNPs in strong linkage disequilibrium with each other among the tagging SNPs helps to detect rare alleles.
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA. xsun@darwin.cwru.edu.
authors.forename: Xiangqing
authors.initials: X
authors.lastname: Sun
authors.forename: Junghyun
authors.initials: J
authors.lastname: Namkung
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Zhu
authors.forename: Robert C
authors.initials: RC
authors.lastname: Elston