Open AccessLarge‐scale analysis reveals a functional single‐nucleotide polymorphism in the 5′‐flanking region of PRDM 16 gene associated with lean body mass
Author(s) -
Urano Tomohiko,
Shiraki Masataka,
Sasaki Noriko,
Ouchi Yasuyoshi,
Inoue Satoshi
Publication year - 2014
Publication title -
aging cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.103
H-Index - 140
eISSN - 1474-9726
pISSN - 1474-9718
DOI - 10.1111/acel.12228
Subject(s) - single nucleotide polymorphism , allele , snp , biology , gene , lean body mass , genetics , genotype , endocrinology , body weight
Summary Genetic factors are important for the development of sarcopenia, a geriatric disorder characterized by low lean body mass. The aim of this study was to search for novel genes that regulate lean body mass in humans. We performed a large‐scale search for 250K single‐nucleotide polymorphisms ( SNP s) associated with bone mineral density ( BMD ) using SNP arrays in 1081 Japanese postmenopausal women. We focused on an SNP (rs12409277) located in the 5′‐flanking region of the PRDM 16 ( PRD 1‐ BF ‐1‐ RIZ 1 homologous domain containing protein 16) gene that showed a significant P value in our screening. We demonstrated that PRDM 16 gene polymorphisms were significantly associated with total body BMD in 1081 postmenopausal Japanese women. The rs12409277 SNP affected the transcriptional activity of PRDM 16. The subjects with one or two minor allele(s) had a higher lean body mass than the subjects with two major alleles. Genetic analyses uncovered the importance of the PRDM 16 gene in the regulation of lean body mass.