Department of Endocrinology, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, China.
Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Front Endocrinol (Lausanne). 2021 Oct 11;12:656077. doi: 10.3389/fendo.2021.656077. eCollection 2021.
The current study was conducted to determine whether peak bone mineral density (BMD) and obesity phenotypes are associated with certain gene polymorphisms found in Chinese nuclear families with female children.
A total of 22 single nucleotide polymorphisms (SNPs) located in and around the gene were identified in 1,300 subjects who were members of 390 Chinese nuclear families with female children. Then, BMD readings of the femoral neck, total hip, and lumbar spine as well as measurements of the total lean mass (TLM), total fat mass (TFM), and trunk fat mass were obtained dual-energy X-ray absorptiometry. The quantitative transmission disequilibrium test was used to analyze the associations between specific SNPs and haplotypes and peak BMD as well as between haplotypes and TLM, percent lean mass, TFM, percent fat mass, trunk fat mass, and body mass index (BMI).
Here, rs7936621 was significantly associated with the BMD values for the total hip and lumbar spine, while rs10835171 and rs6484295 were associated with the trunk fat mass and BMI, respectively. Regarding the haplotypes, we found significant associations between GAA in block 2 and trunk fat mass and BMI, between AGCGT in block 3 and total hip BMD, between TGCTCC in block 5 and femoral neck BMD, and between TACTTC in block 5 and both lumbar spine and femoral neck BMD (all -values < 0.05).
Genetic variations of the gene are related to peak BMD, BMI, and trunk fat mass.
本研究旨在确定峰值骨密度(BMD)和肥胖表型是否与中国女性核心家庭中发现的某些基因多态性有关。
在 390 个有女性后代的中国核心家庭的 1300 名成员中,共鉴定出位于基因内和周围的 22 个单核苷酸多态性(SNP)。然后,通过双能 X 射线吸收法获得股骨颈、全髋和腰椎的 BMD 读数以及总瘦体重(TLM)、总脂肪量(TFM)和躯干脂肪量的测量值。使用定量传递不平衡检验分析特定 SNP 和单倍型与峰值 BMD 之间以及单倍型与 TLM、瘦体重百分比、TFM、脂肪百分比、躯干脂肪量和体重指数(BMI)之间的关系。
在此,rs7936621 与全髋和腰椎的 BMD 值显著相关,而 rs10835171 和 rs6484295 分别与躯干脂肪量和 BMI 相关。关于单倍型,我们发现 2 号块中的 GAA 与躯干脂肪量和 BMI 之间、3 号块中的 AGCGT 与全髋 BMD 之间、5 号块中的 TGCTCC 与股骨颈 BMD 之间以及 5 号块中的 TACTTC 与腰椎和股骨颈 BMD 之间均存在显著相关性(所有 P 值均<0.05)。
基因的遗传变异与峰值 BMD、BMI 和躯干脂肪量有关。