Association of HIVEP3 Gene and Lnc RNA with Femoral Neck Bone Mineral Content and Hip Geometry by Genome-Wide Association Analysis in Chinese People.
Association of HIVEP3 Gene and Lnc RNA with Femoral Neck Bone Mineral Content and Hip Geometry by Genome-Wide Association Analysis in Chinese People.
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通过全基因组关联分析研究中国人 HIVEP3 基因和 Lnc RNA 与股骨颈骨矿物质含量和髋关节几何形状的关联
DOI：
10.1155/2020/6929073
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发表时间：
2020
影响因子：
2.8
通讯作者：
Zhang Z
中科院分区：
文献类型：
--
作者：
Hu W;He J;Qi L;Wang C;Yue H;Gu J;Zhang H;Wang Y;Zhang Z
GWAS已成功定位和分析了骨质疏松症的致病基因。遗传学研究发现，骨密度的遗传度为50%-85%，另一半是由髋关节几何参数和组织水平特征引起的。本研究旨在研究上海地区汉族人群骨质疏松症的GWAS。 我们收集了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线骨密度仪测量骨密度和髋关节几何参数。提取外周血基因组DNA，采用Illumina Human Asian Screening Array-24 + v1.0（阿萨）基因芯片进行分析。统计分析这些SNPs与骨密度和髋关节几何参数之间的关系。 共纳入1155例受试者。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（HIVEP 3）的一个SNP rs35282355和位于LINC RNA的另外25个SNP与股骨颈的骨矿物质含量（BMC）显著相关（P= 2.30 × 10−9，P < 5 × 10−8）。我们还发现SNP rs35282355与髋关节几何形状横截面积（CSA）之间的相关性具有显著的边缘统计学差异（P = 5.95 × 10−8）。 通过本研究，我们发现HIVEP 3基因和LINC RNA与股骨颈BMC有潜在的相关性。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，验证这些位点，开展分子研究。
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 + v1.0 (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 (P= 2.30 × 10−9, P < 5 × 10−8). We also found that the correlation between SNP rs35282355 and cross-sectional area (CSA) of hip geometry was a significant marginal statistical difference (P = 5.95 × 10−8). 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.
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