No evidence for linkage and/or association of human alpha2-HS glycoprotein gene with bone mineral density variation in Chinese nuclear families
No evidence for linkage and/or association of human alpha2-HS glycoprotein gene with bone mineral density variation in Chinese nuclear families
复制标题
没有证据表明人类 Alpha2-HS 糖蛋白基因与中国核心家族骨矿物质密度变异之间存在联系和/或关联
DOI：
10.1007/s00223-002-0005-1
复制
发表时间：
2003-09-01
影响因子：
4.2
通讯作者：
Deng, HW
中科院分区：
文献类型：
--
作者：
Liu, XH;Liu, YJ;Deng, HW
骨质疏松症是一个世界性的重要健康问题。α 2-HS糖蛋白（AHSG）参与骨形成和代谢，被认为是骨质疏松症的重要候选基因。在这项研究中，我们同时测试了AHSG基因与骨矿物质密度（BMD）的变化，骨质疏松症的一个重要危险因素的连锁和/或关联。本研究以401个中国核心家庭（包括父母和女儿）的1,260名被试为研究对象。女儿的年龄从20岁到45岁不等。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对AHSG基因第7外显子内的Sac I位点进行基因分型。该多态性涉及在氨基酸位置238处密码子的中间核苷酸处C至G的核苷酸取代，导致苏氨酸（ACC）被丝氨酸（AGC）取代。通过双能X线吸收法（DXA）测量腰椎和髋关节区域的BNID。使用QTDT（数量性状传递不平衡检验），我们没有发现AHSG基因与脊柱或髋部BMD变异之间的关联或连锁的显著结果。我们的数据没有提供证据支持AHSG基因作为中国人群BMD变异的数量性状位点（QTL）。
Osteoporosis is an important health problem in the world. Alpha2-HS glycoprotein (AHSG) is involved in bone formation and metabolism and has been considered as an important candidate gene for osteoporosis. In this study, we simultaneously tested linkage and/or association of the AHSG gene with the variation of bone mineral density (BMD), an important risk factor for osteoporosis. A sample of 1,260 subjects from 401 Chinese nuclear families (including both parents and their daughters) were studied. The daughters' ages ranged from 20 to 45 years. All the subjects were genotyped by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) at polymorphic Sac I site inside the exon 7 of the AHSG gene. This polymorphism involves a nucleotide substitution of C to G at the middle nucleotide of the codon at amino acid position 238, resulting in the replacement of threonine (ACC) with serine (AGC). BNID was measured at the lumbar spine and hip region by dual-energy X-ray absorptiometry (DXA). Using the QTDT (quantitative trait transmission disequilibrium test), we found no significant results for association or linkage between the AHSG gene and BMD variation at the spine or hip. Our data provided no evidence to support the AHSG gene as a quantitative trait locus (QTL) for the BMD variation in a Chinese population.