Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families
Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families
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白种人和中国人核心家族COL1A1和AHSG基因多态性与股骨颈骨几何参数的关联及连锁分析
DOI：
10.1111/j.1745-7254.2007.00522.x
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发表时间：
2007-03-01
影响因子：
8.2
通讯作者：
Deng, Hong-wen
中科院分区：
文献类型：
--
作者：
Jiang, Hui;Lei, Shu-feng;Deng, Hong-wen
目的：同时研究1型胶原α 1链（COL 1A 1）和α 2-HS-糖蛋白（AHSG）基因对高加索人和中国人骨几何参数变异的影响.方法：采用聚合酶链反应（PCR）-限制性片段长度多态性（RFLP）技术，对来自157个核心家系的605名高加索人和来自400个核心家系的1228名中国人的AHSG-SacI、COL 1A 1-PCOL 2和Sp1基因多态性进行分型。根据双能X线骨密度仪测量的股骨颈骨密度和骨面积计算5个FN骨几何参数。结果：t检验显示，未校正和校正后（按年龄、身高、体重和性别）数据，高加索人和中国人后代的所有骨几何表型（除艾德外）均存在显著性差异。在高加索人中，我们发现COL 1A 1-Sp1多态性与（rs 1800012）和横截面积（CSA）、皮质厚度（CT）、皮质内直径（艾德）、屈曲比（BR）（P = 0.018、0.002、0.023和0.001）; COL 1A 1-Sp1多态性也检测到与BR的显著连锁（P = 0.039）。在中国人群中，COL 1A 1-PCOL 2基因多态性（rs 1107946）与CT、BR的家族内关联显著（P值分别为0.012和0.008）。结论：COL 1A 1基因可能与高加索人和中国人的骨几何学特征相关，AHSG基因可能与高加索人的骨几何学特征相关，而与中国人的骨几何学特征无关。本研究首次探讨了COL 1A 1和AHSG基因在高加索人和中国人骨几何学中的重要性。
AbstractAim:To simultaneously investigate the contribution of the alpha 1 chain of collagen type 1 (COL1A1) and alpha2-HS-glycoprotein (AHSG) genes to the variation of bone geometric parameters in both Caucasians and Chinese.Methods:Six hundred and five Caucasian individuals from 157 nuclear families and 1228 Chinese subjects from 400 nuclear families were genotyped at the AHSG-SacI, COL1A1-PCOL2 and Sp1 polymorphisms using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). 5 FN bone geometric parameters were calculated based on bone mineral density and bone area of femoral neck (FN) measured by dual energy X-ray absorptiometry. Population stratification, total family association, within-family association, and linkage tests were performed by the quantitative transmission disequilibrium test program.Results:The t-test showed the significant differences of all bone geometric phenotypes (except ED) between Caucasians and Chinese in the offspring using both unadjusted and adjusted (by age, height, weight, and gender) data. In Caucasians, we found significant within-family association results between the COL1A1-Sp1 polymorphism (rs1800012) and cross sectional area (CSA), cortical thickness (CT), endocortical diameter (ED), buckling ratio (BR) (P = 0.018, 0.002, 0.023, and 0.001, respectively); the COL1A1-Sp1 polymorphism also detected significant linkage with BR (P = 0.039). In the population of China, the within-family associations between the COL1A1-PCOL2 polymorphism (rs1 107946) and CT, BR were significant (P = 0.012 and 0.008, respectively). Furthermore, evidence of linkage were observed between the AHSG-SacI polymorphism (rs4918) and CT, BR (P = 0.042 and 0.014, respectively) in Caucasians, but not in Chinese.Conclusion:Our results suggest that the COL1A1 gene may have significantly association with bone geometry in both Caucasians and Chinese, and the AHSG gene may be linked to bone geometry in Caucasians, but not in Chinese. This study represents our first efforts on investigating the importance of the COL1A1 and AHSG genes on bone geometry in both Caucasians and Chinese.