长春市汉族人群COL1A1启动子区多态性与骨质疏松症的相关性

The relationship between polymorphism in promoter region of COL1A1 and osteoporosis of Han nation in Changchun city

目的研究长春市汉族人群Ⅰ型胶原α1链基因(COL1A1)启动子区-1997G/T、+1245G/T多态性及其与骨质疏松的关系。方法 (1)抽取受试人群外周静脉血5 ml,提取血清DNA。(2)应用实时荧光定量PCR仪扩增目的基因的DNA片段。(3)采用TaqMan探针法对-1997G/T及+1245G/T位点进行等位基因鉴别。(4)应用双能X线骨密度仪测定骨密度(BMD),将374例受试人群分为骨密度正常、骨质疏松、骨质疏松性骨折3组。结果长春市汉族正常人群COL1A1-1997G/T转换中,GG基因型占38.40%,GT基因型占46.38%,TT基因型占15.22%,以GT基因型为主;骨质疏松患者女性GG等位基因型所占比例大于男性,GG基因型占44.39%,GT基因型占43.37%,TT基因型占12.24%;骨质疏松骨折患者GG基因型为主,占47.50%,GT基因型占35.00%,TT基因型占17.50%。骨质疏松组女性GG基因型BMD低于GT、TT基因型,但差异无统计学意义(P均>0.05);骨质疏松骨折组女性GG基因型BMD显著低于GT、TT基因型(P均<0.05)。COL1A1+1245位点G/T转换,在正常人群中发现GT杂合型2例,占总数的0.53%,其余均为GG基因型。结论 COL1A1-1997G/T转换中正常人群以GT基因型为主,骨质疏松患者和骨质疏松骨折患者以GG基因型为主。骨质疏松患者和骨质疏松性骨折患者女性GG基因型BMD均低于GT、TT基因型。COL1A1-1997G/T与BMD显著相关,+1245G/T与BMD无相关性。

Objective To study - 1997G/T, ＋ 1245G/T polymorphism of COL1A1 gene of Hart nation in Changchun city and explore their correlation with Osteoporosis. Methods （ 1 ） To collect venous blood 5 ml and abstract DNA of serum. （2）To amplificate the DNA by real-time PCR system. （3）To indentificate the polymorphism of - 1997G/T and ＋ 1245G/T allele gene in COL1A1 by the TaqMan probes. （4）To measure bone mineral density of them by using DTX-200 detector, the 374 persons were divided into three groups： group normal, group osteoporosis and group osteoporosis fracture. Results In the transformation of - 1997G/T allele gene of COL1A1, Genotype GT was major in normal group, genotype GT was 46. 38% , genotype TT was 15.22% , and genotype GG was 38.40%. Genotype GG in female was more than that in male in osteoporosis group. Genotype GG was 44.39% , genotype GT was 43.37%. Genotype GT was 35.00% ,and genotype TT was 17.50% in osteoporosis fracture group. The BMD of genotype GG of female was less than those of genotype GT and TT of female in osteoporosis group and osteoporosis fracture group, but their differences in osteoporosis group were not obvious （ all P 〉 0. 05 ）, while those in osteoporosis fracture group were obvious （ all P 〈 0. 05 ）. The transformation of ＋ 1245 allele gene of COL1A1 was identificated in the three groups, two cases of genotype GT were found, and the rest was genotype GG.Conclusion Genotype GT is major in - 1997 allele gene of COL1A1 of the group normal, while genotype GG is major in osteoporosis group and osteoporosis fracture group. The BMD of carriers with genotype GG of female are lower than those of genotype GT and genotype TT of female in osteoporosis group and osteoporosis fracture group. The genotypes in - 1997 allele gene of COL1A1 are correlated significantly with the BMD. The genotypes of the ＋ 1245 allele gene of COL1A1 is not correlated with BMD.