Alpha2-HS glycoprotein gene is associated with bone size at the hip in Chinese.

Yong-Jun Liu, Xiang-Hua Liu, Shu-Feng Lei, Miao-Xin Li, Hong-Wen Deng
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Abstract

Bone size is an important risk factor, independent of bone mineral density (BMD), for osteoporotic fracture. Bone size has a high heritability. A better understanding of genetic factors regulating bone size will have important clinical implications. In this study, we explored the relationship between the alpha2-HS glycoprotein (AHSG) gene and bone size variation at the spine and hip in a Chinese population. The study sample comprised 1 260 subjects from 401 Chinese nuclear families (each including both parents and at least one female child). The Sac / polymorphism inside the exon 7 of the AHSG gene was genotyped and analyzed. This variant represents a nucleotide substitution of C to G at amino acid position 238 resulting in a translation polymorphism of threonine to serine and thus making a potential impact on gene function. We assessed population stratification but did not find significant evidence at any skeletal sites. We found significant association between the AHSG Sac / polymorphism and bone size at the intertrochanteric region (P = 0.019) and the total hip (P = 0.035). The polymorphisms explained 3.74% and 3.16% variations in bone size at the intertrochanteric region and total hip respectively. No significant evidence of linkage was detected, largely due to the limited number of sibpairs in this data set and less informative marker (AHSG Sac / polymorphism) (compared with microsatellite markers) for linkage analysis. Our results suggested that the AHSG gene may contribute to bone size variation at the hip in this Chinese population.

中国人的Alpha2-HS糖蛋白基因与髋骨大小有关。
骨大小是骨质疏松性骨折的重要危险因素,独立于骨矿物质密度(BMD)。骨的大小具有很高的遗传性。更好地了解调节骨大小的遗传因素将具有重要的临床意义。在这项研究中,我们探讨了中国人群中alpha2-HS糖蛋白(AHSG)基因与脊柱和髋关节骨大小变化之间的关系。研究样本包括来自401个中国核心家庭(每个家庭包括父母双方和至少一个女童)的1260名受试者。对AHSG基因外显子7内的Sac /多态性进行了基因分型和分析。该变异代表了238个氨基酸位置的C到G的核苷酸替换,导致苏氨酸到丝氨酸的翻译多态性,从而对基因功能产生潜在影响。我们评估了人口分层,但没有在任何骨骼遗址发现显著的证据。我们发现AHSG囊/多态性与股骨粗隆间区骨大小(P = 0.019)和全髋关节(P = 0.035)有显著相关性。这些多态性分别解释了股骨粗隆间区和全髋区3.74%和3.16%的骨大小差异。没有发现明显的连锁证据,这主要是由于该数据集中的兄弟姐妹数量有限,而且用于连锁分析的标记(AHSG Sac /多态性)(与微卫星标记相比)信息较少。我们的研究结果表明,AHSG基因可能导致中国人群髋部骨大小的变化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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