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目的探讨人Ⅰ型胶原α1链(COL1A1)及α2链(COL1A2)基因型与绝经后妇女骨密度相互关系。方法选取年龄≥42岁绝经后妇女(自然绝经≥2年)231例,采用双能X线吸收法(DEXA)测定其全身、腰椎2～4(L2～4)、股骨颈(Neck)、Ward?三角和大转子区等部位的骨密度(BMD)值,并采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测外周血白细胞基因组Ⅰ型胶原α1链及α2链基因型。结果231例受试对象中,Ⅰ型胶原α1链PCR扩增产物未发现ACCB7I酶切位点,SpⅠ结合位点不存在G→T突变,Ⅰ型胶原α1链基因型均为SS型;Ⅰ型胶原α2链基因型分别为EE型113例,Ee型91例,ee型27例(分别占48.9%、39.4%、11.7%),等位基因频率E和e各为68.6%、31.4%。基因型分布符合Hardy-weinberg定律。携带EE基因型的个体比Ee基因型和ee基因型个体的骨密度值为低,但只在腰椎侧位(L2-L4)、股骨颈(Neck)、大转子(Troch)、Ward?s三角(Ward?s)等部位的骨密度值EE基因型比Ee基因型携带者明显降低(P<0.05)。结论广州地区绝经后妇女COL1A1SpⅠ结合位点不存在G→T突变。COL1A2基因EE型个体较Ee基因型及ee基因个体的骨密度值低,绝经后妇女骨密度与COL1A2基因多态性存在一定相关性。
Objective To investigate the relationship between COL1A1 and COL1A2 genotypes and bone mineral density in postmenopausal women. Methods 231 postmenopausal women aged ≥42 years (≥2 years of natural menopause) were enrolled in this study. The whole body, lumbar spine 2 ~ 4 (L2 ~ 4), femur neck, Ward (BMD) of the triangle and the greater trochanter, and PCR-RFLP was used to detect the genotypes of type 1 collagen α1 and α2 chain genes in peripheral blood leukocytes type. Results Among the 231 subjects, no ACCB7I restriction site was found in the PCR product of α1 chain of type Ⅰ collagen, G → T mutation was not found in the site of Sp Ⅰ binding, and type Ⅰ collagen α1 chain was SS type. Type Ⅰ The α2 chain genotypes of collagen were 113 cases of EE, 91 cases of Ee and 27 cases of ee (48.9%, 39.4% and 11.7%, respectively). The frequencies of alleles E and e were 68.6% and 31.4% respectively. Genotype distribution in line with the Hardy-weinberg law. Individuals with EE genotypes had lower BMD than those with Ee and ee genotypes, but only in the lumbar spine (L2-L4), neck, Troch, Ward? S triangle (Ward? S) and other parts of the bone mineral density value EE genotypes were significantly lower than Ee genotype carriers (P <0.05). Conclusion There is no G → T mutation in COL1A1Sp Ⅰ binding site in postmenopausal women in Guangzhou. The genotype EE of COL1A2 gene is lower than that of Ee genotype and ee gene. There is a certain correlation between BMD of COL1A2 gene and COL1A2 gene polymorphism in postmenopausal women.