Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

ABSTRACT:

Background/objectives

Melanocortin-4 receptor (MC4R) plays an essential role in food intake and energy homeostasis. More than 170 MC4R variants have been described over the past two decades, with conflicting reports regarding the prevalence and phenotypic effects of these variants in diverse cohorts. To determine the frequency of MC4R variants in large cohort of different ancestries, we evaluated the MC4R coding region for 20,537 eMERGE participants with sequencing data plus additional 77,454 independent individuals with genome-wide genotyping data at this locus.

Subjects/methods

The sequencing data were obtained from the eMERGE phase III study, in which multisample variant call format calls have been generated, curated, and annotated. In addition to penetrance estimation us

SUBMITTER: Namjou B 

PROVIDER: S-EPMC7752751 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature