Article
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
International journal of obesity (2005) - 1 Jan 2021
Namjou Bahram, Stanaway Ian B, Lingren Todd, Mentch Frank D, Benoit Barbara, Dikilitas Ozan, Niu Xinnan, Shang Ning, Shoemaker Ashley H, Carey David J, Mirshahi Tooraj, Singh Rajbir, Nestor Jordan G, Hakonarson Hakon, Denny Joshua C, Crosslin David R, Jarvik Gail P, Kullo Iftikhar J, Williams Marc S, Harley John B
Abstract excerpt
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...
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