Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome.

ABSTRACT: Insertions of the human-specific subfamily of LINE-1 (L1) retrotransposon are highly polymorphic across individuals and can critically influence the human transcriptome. We hypothesized that L1 insertions could represent genetic variants determining important human phenotypic traits, and performed an integrated analysis of L1 elements and single nucleotide polymorphisms (SNPs) in several human populations. We found that a large fraction of L1s were in high linkage disequilibrium with their surrounding genomic regions and that they were well tagged by SNPs. However, L1 variants were only partially captured by SNPs on standard SNP arrays, so that their potential phenotypic impact would be frequently missed by SNP array-based genome-wide association studies. We next identified potential pheno

SUBMITTER: Kuhn A 

PROVIDER: S-EPMC4050588 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature