Abstract
Objective The purpose of this study was to explore the effect of the SOST gene polymorphisms on body composition in Chinese nuclear families with male offspring. Methods 1,016 individuals were recruited from 335 Chinese nuclear families with male offspring. The nuclear families consist of at least one male offspring aged 18 to 44. We genotyped the 10 tagged single-nucleotide polymorphisms (SNPs) in SOST gene (rs7220711, rs865429, rs851057, rs1708635, rs2023794, rs1234612, rs74252774, rs1634330, rs851058, and rs1513670) in all the above people. We used dual-energy X-ray absorptiometry to measure the composition of the human body. The quantitative transmission disequilibrium test (QTDT) was used to analyze the associations of the SNPs with the body composition. Results QTDT analysis showed that rs1634330 was significantly associated with trunk LM (P < 0.05). However, haplotypes were not found to be significantly associated with the body composition in the within-family association. The 1000 permutations were consistent with these within-family association results. Conclusions Our results showed that the genetic variation in the SOST gene may contribute to variations in the body composition of Chinese male offspring.
Highlights
Introduction eSOST gene is located on the long arm of human chromosome 17 (17q12–q21), encoding the sclerostin protein of 213 amino acids which negatively regulates bone formation through the Wnt pathway [1, 2]
E body composition is composited of fat mass (FM) and lean mass (LM), which can be measured by dual-energy X-ray absorptiometry (DXA)
We used quantitative transmission disequilibrium test (QTDT) to observe the association between polymorphisms in the SOST gene and body composition
Summary
SOST gene is located on the long arm of human chromosome 17 (17q12–q21), encoding the sclerostin protein of 213 amino acids which negatively regulates bone formation through the Wnt pathway [1, 2]. Loss of function mutations of the SOST gene in human can lead to sclerosteosis or Van Buchem disease, an autosomal recessive disease with abnormal high bone mass [3, 4]. Many studies focused on the association of body composition and Wnt pathway genes. Our previous study found evidence of an association between body composition and CTNNB1and WNT5B gene [10]. In the SOST gene, the rs10534024 is associated with body composition in Danish young men [11], but rs4792909, rs851054, and rs2023794 are not in Caucasian young men [8].
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