Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.

ABSTRACT:

Background

Exome sequencing is a recently implemented method to discover rare mutations for Mendelian disorders. Less is known about its feasibility to identify genes for complex traits. We used exome sequencing to search for rare variants responsible for a complex trait, low levels of serum high-density lipoprotein cholesterol (HDL-C).

Methods and results

We conducted exome sequencing in a large French-Canadian family with 75 subjects available for study, of which 27 had HDL-C values less than the fifth age-sex-specific population percentile. We captured ≈50 Mb of exonic and transcribed sequences of 3 closely related family members with HDL-C levels less than the fifth age-sex percentile and sequenced the captured DNA. Approximately 82,000 variants were detected in each ind

SUBMITTER: Reddy MV 

PROVIDER: S-EPMC3515660 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature