Large‐scale analysis reveals a functional single‐nucleotide polymorphism in the 5′‐flanking region of PRDM16 gene associated with lean body mass

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 (S...

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Veröffentlicht in:Aging cell Jg. 13; H. 4; S. 739 - 743
Hauptverfasser: Urano, Tomohiko, Shiraki, Masataka, Sasaki, Noriko, Ouchi, Yasuyoshi, Inoue, Satoshi
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England John Wiley & Sons, Inc 01.08.2014
BlackWell Publishing Ltd
Schlagworte:
5' Flanking Region - genetics
aging
Alleles
Analysis
Animals
Body fat
body lean mass
Body mass
Body mass index
Body Weight - genetics
Bone density
Bone mineral density
Bones
Cell Line
Density
DNA-Binding Proteins - genetics
Female
Fractures
Gene polymorphism
Genes
Genetic analysis
Genetic aspects
Genetic Association Studies
Genetic factors
Genetic research
genetics
Genomes
genome‐wide association study
Human subjects
Humans
Lean body mass
Metabolism
Mice
Middle Aged
Musculoskeletal system
Original
Osteoporosis
Polymorphism
Polymorphism, Single Nucleotide - genetics
Post-menopause
Postmenopausal women
PRDM16
Sarcopenia
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Thinness - genetics
Transcription Factors - genetics
Transcription, Genetic
Type 2 diabetes
Womens health
genetics
aging
single-nucleotide polymorphism
PRDM16
genome-wide association study
body lean mass
ISSN:1474-9718, 1474-9726, 1474-9726
Online-Zugang:Volltext
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Zusammenfassung: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 (SNPs) 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 PRDM16 (PRD1‐BF‐1‐RIZ1 homologous domain containing protein 16) gene that showed a significant P value in our screening. We demonstrated that PRDM16 gene polymorphisms were significantly associated with total body BMD in 1081 postmenopausal Japanese women. The rs12409277 SNP affected the transcriptional activity of PRDM16. 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 PRDM16 gene in the regulation of lean body mass.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1474-9718
1474-9726
1474-9726
DOI:10.1111/acel.12228