Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms.

ABSTRACT: Ultraconserved elements in the human genome likely harbor important biological functions as they are dosage sensitive and are able to direct tissue-specific expression. Because they are under purifying selection, variants in these elements may have a lower frequency in the population but a higher likelihood of association with complex traits. We tested a set of highly constrained SNPs (hcSNPs) distributed genome-wide among ultraconserved and nearly ultraconserved elements for association with seven traits related to reproductive (age at natural menopause, number of children, age at first child, and age at last child) and overall [longevity, body mass index (BMI), and height] fitness. Using up to 24,047 European-American samples from the National Heart, Lung, and Blood Institute Candidate G

SUBMITTER: Chiang CW 

PROVIDER: S-EPMC3430540 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature