Hu Weiwei, He Jinwei, Qi Luyue, Wang Chun, Yue Hua, Gu Jiemei, Zhang Hao, Wang Yi, Zhang Zhenlin
Shanghai Clinical Research Center of Bone Diseases, Department of Osteoporosis and Bone Diseases, Shanghai Jiaotong University Affiliated Sixth People's Hospital, Yishan Road 600, Shanghai 200233, China.
Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Shanghai, China.
Int J Endocrinol. 2020 Oct 13;2020:6929073. doi: 10.1155/2020/6929073. eCollection 2020.
GWAS has successfully located and analyzed the pathogenic genes of osteoporosis. Genetic studies have found that heritability of BMD is 50%-85% while the other half is caused by hip geometric parameters and tissue horizontal characteristics. This study was designed to study the GWAS of osteoporosis in Shanghai Han population.
We collected 1224 unrelated healthy young men (20-40 years old), young women (20-40 years old), and postmenopausal women (over 50 years old) who lived in Shanghai. BMD and hip geometric parameters were measured by dual-energy X-ray absorptiometry. The genomic DNA of peripheral blood was extracted and analyzed by using Illumina Human Asian Screening Array-24 + 1.0 (ASA) gene chip. Statistical analysis was carried out to evaluate the relationship between these SNPs and BMD and hip geometric parameters.
A total of 1155 subjects were included. We found that one SNP rs35282355 located in the human immunodeficiency virus type 1 enhancer-binding protein 3 gene (HIVEP3) and another 25 SNPs located in LINC RNA were significantly correlated with bone mineral content (BMC) in the femoral neck (= 2.30 × 10, < 5 × 10). We also found that the correlation between SNP rs35282355 and cross-sectional area (CSA) of hip geometry was a significant marginal statistical difference ( = 5.95 × 10).
Through this study, we found that HIVEP3 gene and LINC RNA are potentially correlated with femoral neck BMC. These results provide important information for us to further understand the etiology and genetic pathogenesis of osteoporosis. In the future, we will expand the sample size to verify these loci and carry out molecular research.
全基因组关联研究（GWAS）已成功定位并分析了骨质疏松症的致病基因。遗传学研究发现，骨密度（BMD）的遗传度为50%-85%，另一半则由髋部几何参数和组织水平特征引起。本研究旨在对上海汉族人群进行骨质疏松症的GWAS研究。
我们收集了居住在上海的1224名无血缘关系的健康青年男性（20-40岁）、青年女性（20-40岁）和绝经后女性（50岁以上）。采用双能X线吸收法测量骨密度和髋部几何参数。提取外周血基因组DNA，使用Illumina Human Asian Screening Array-24 + 1.0（ASA）基因芯片进行分析。进行统计分析以评估这些单核苷酸多态性（SNP）与骨密度和髋部几何参数之间的关系。
共纳入1155名受试者。我们发现位于人类免疫缺陷病毒1型增强子结合蛋白3基因（HIVEP3）中的一个SNP rs35282355以及位于长链非编码RNA（LINC RNA）中的另外25个SNP与股骨颈骨矿物质含量（BMC）显著相关（= 2.30 × 10， < 5 × 10）。我们还发现SNP rs35282355与髋部几何形状的横截面积（CSA）之间的相关性存在显著的边缘统计学差异（ = 5.95 × 10）。
通过本研究，我们发现HIVEP3基因和LINC RNA与股骨颈BMC可能存在相关性。这些结果为我们进一步了解骨质疏松症的病因和遗传发病机制提供了重要信息。未来，我们将扩大样本量以验证这些位点并开展分子研究。
