Article
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
The Journal of clinical endocrinology and metabolism - 24 Mar 2022
Koprulu Mine, Zhao Yajie, Wheeler Eleanor, Dong Liang, Rocha Nuno, Li Chen, Griffin John D, Patel Satish, Van de Streek Marcel, Glastonbury Craig A, Stewart Isobel D, Day Felix R, Luan Jian'an, Bowker Nicholas, Wittemans Laura B L, Kerrison Nicola D, Cai Lina, Lucarelli Debora M E, Barroso Inês, McCarthy Mark I, Scott Robert A, Saudek Vladimir, Small Kerrin S, Wareham Nicholas J, Semple Robert K, Perry John R B, O'Rahilly Stephen, Lotta Luca A, Langenberg Claudia, Savage David B
Abstract excerpt
CONTEXT: Biological and translational insights from large-scale, array-based genetic studies of fat distribution, a key determinant of metabolic health, have been limited by the difficulty in linking predominantly noncoding variants to specific gene targets. Rare coding variant analyses provide greater confidence that a specific gene is involved, but do not necessarily indicate whether gain or loss of function...
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