Abstract
Background: Emerging evidence has revealed a close relationship between obesity and osteoporosis. It was reported recently that conditional knockout of the Spry1 gene in mice adipocytes causes an increase in body fat and a decrease in bone mass, and that these phenotypes are rescued by Spry1 overexpression in adipose tissue. In this study, we investigated whether genetic variation in the human SPRY1 gene is associated with obesity-related phenotypes and/or osteoporosis in humans. Methods: We performed a candidate gene association analysis between the four single nucleotide polymorphisms (SNPs) and 14 imputed SNPs in the SPRY1 gene and obesity-related traits and osteoporosis in a Korean women cohort (3013 subjects). Results: All four SPRY1 gene SNPs were significantly associated with either obesity-related traits or osteoporosis. The TGCC haplotype in the SRPY1 gene showed simultaneous association with an increased risk for obesity-related traits, percentage body fat (p=0.0087) and percentage abdominal fat (p=0.047), and osteoporosis (odds ratio=1.50; p=. 0.025) in the recessive genetic model. Conclusions: Our results support a previous finding in conditional Spry1 gene knockout mice and suggest that the SPRY1 gene is an important genetic factor for determining the risk of both obesity and osteoporosis in humans.
Original language | English |
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Pages (from-to) | 95-101 |
Number of pages | 7 |
Journal | Molecular Genetics and Metabolism |
Volume | 108 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 2013 |
Bibliographical note
Funding Information:This study was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF), funded by the Ministry of Education, Science, and Technology (MEST) ( KRF-2009-0093189 ) and the High Value-added Food Technology Development Program, Ministry for Food, Agriculture, Forestry, and Fisheries, Republic of Korea ( 111133-03-1-SB020 ). We thank the Korea Center for Disease Control, of the Korea National Institute of Health for providing clinical information and genotype data. This study was performed within the Consortium for Large Scale Genome Wide Association Study III (2011E7300400), which was supported by genotypic (the Korean Genome Analysis Project, 4845-301) and phenotypic data (the Korean Genome Epidemiology Study, 4851-302) from the Korean Center for Disease Control.
Keywords
- Association
- Haplotype
- Obesity
- Osteoporosis
- SPRY1
- Single nucleotide polymorphism