中国大陆汉族人群强直性脊柱炎患者骨保护素基因多态性研究

Genetic Polymorphisms of Osteoprotegerin Gene in Ankylosing SpondyHtis in Chinese Hart Population

目的：通过骨保护素（OPG）基因单核苷酸多态性（SNPs）位点的筛查，分析中国大陆汉族人群中OPG基因多态性与强直性脊柱炎（AS）易感性的相关性。方法：采集2008年1月至2012年1月在我院就诊的AS患者195例（AS组）及203例性别、年龄与之匹配的健康体检者（对照组）的外周血样本，并提取基因组DNA。所有样本采用TaqMan探针法对OPG基因SNP rs2073618、rs4355801位点进行基因型鉴定。比较AS组与对照组之间不同等位基因及基因型的分布差异，并分析其与AS易感性的相关性。结果：OPG基因SNP rs2073618、rs4355801位点的等位基因及基因型分布均符合Hardy—Weinberg平衡。AS组与对照组等位基因频率分别如下。rs2073618（G）：71．0％、71．9％，（C）：29．0％、28．1％；rs4355801（G）：27．7％、26．4％，（A）：72．3％、73．6％。两组在基因型频率的分布上显示，m2073618（CC）：9．2％、8．9％，（GC）：39．5％、38．4％，（GG）：51．3％、52．7％；rs4355801（AA）：52．3％、52．7％，（AG）：40．0％、41．9％，（GG）：7．7％、5．4％。以上数据组间比较差异均无统计学意义（P〉0．05）。经关联性分析，未发现AS发病的风险等位基因或基因型。结论：中国大陆汉族人群中OPG基因SNP rs2073618、rs4355801单核苷酸多态性与AS的易感性之间没有相关性。

Objective：To investigate whether the genetic polymorphisms of osteoprotegerin （OPG） gene are associated with the susceptibility to ankylosing spondylitis （AS） in Chinese Han population. Methods：Be- tween Jan. 2008 and Jan. 2012, a total of 195 AS patients and 203 cases of matched age and gender controls admitted in our hospital were enrolled in this study. Genomic DNA was extracted from peripheral blood leuko- cytes of each subject. Two single nucleotide polymorphisms （SNPs） of OPG gene （rs2073618 and rs4355801 ） were genotyped with TaqMan probe method. The frequencies of different alleles and genotypes were compared between AS patients and controls. The associations of OPG genetic polymorphisms with the susceptibility to AS were also analyzed. Results：Both OPG gene SNP rs2073618 and rs4355801 were conformed to Hardy- Wein- berg equilibrium. The allele frequencies in AS patients and controls were rs2073618 （G） ： 71.0% and 71. 9%, （C） ： 29.0% and 28.1% ; rs4355801 （G） ： 27.7% and 26.4%, （A） ： 72.3% and 73.6%, respec- tively. The genotype frequencies in those two groups were rs2073618 （CC） ： 9.2% and 8.9%, （C,C） ： 39. 5% and 38.4%, （GG） ： 51.3% and 52.7% ; rs4355801 （AA） ： 52.3% and 52.7%, （AG） ： 40.0% and 41.9%, （GG） ： 7.7% and 5.4%, respectively. No significant difference was observed between the frequen- cies of different alleles and genotypes of OPG gene SNP rs2073618, rs4355801 in AS patients and controls （P 〉 0.05 ）. No significant risk allele or genotype of the susceptibility to AS was found either （ P 〉 0.05 ）. Con- clusions：The SNP rs2073618, rs4355801 of OPG gene may not be associated with the susceptibility to AS in Chinese Han population.