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目的:探讨中国南方汉族不同性别冠状动脉粥样硬化患者维生素D受体基因多态性的分布特点及临床特点。方法:应用Sanger法测序检测242例冠状动脉粥样硬化患者维生素D受体Tru9Ⅰ(rs757343),ApaⅠ(rs7975232),TaqⅠ(rs731236)和FokⅠ(rs2228570)基因型,其中男171例,女71例;比较其在不同性别间的分布差异,及不同性别冠心病患者间各临床及生化参数的差异。结果:维生素D受体基因FokⅠ酶切位点:两组AA基因型、AG基因型、GG基因型频率分别为:男性22.2%、48.0%和29.8%,女性:23.9%、46.5%和29.6%,差异无统计学意义(P=0.771、0.834、0.969),等位基因A/G分布频率差异无统计学意义(P=0.912);Tru9Ⅰ酶切位点:AG基因型及GG基因型差异无统计学意义(P=0.879,0.281),AA基因型频率存在性别差异(P=0.037),等位基因A/G分布频率无差异(P=0.109);ApaⅠ酶切位点的不同性别组比较:AC基因型及CC基因型不存在统计学差异(P=0.267、0.993),AA基因型频率存在性别差异(P=0.047),等位基因A/C分布频率无差异(P=0.404);TaqⅠ酶切位点不同性别组比较:TT基因型、CT基因型不存在统计学差异(P=0.903),CC基因型均未测得,无法比较,等位基因T/C分布频率无差异(P=0.906)。进一步比较两组间各参数,结果发现两组间年龄构成差异无统计学意义的情况下,女性患者较男性患者有较低的肌酐、空腹血糖、冠脉积分和较高的总胆固醇、高密度脂蛋白、低密度脂蛋白,且存在统计学差异(P值分别为0.001,0.044,0.002,0.002,0.002,0.049)。采用分层分析示女性ApaⅠ不同基因型总胆固醇及低密度脂蛋白水平存在统计学差异(P=0.035,0.027)。结论:中国南方汉族人群冠状动脉粥样硬化中不同性别间维生素D受体基因FokⅠ、TaqⅠ酶切位点多态性分布频率无明显差异,Tru9Ⅰ、ApaⅠ酶切位点多态性分布频率存在统计学差异;两者间存在不同的临床特点,女性患者合并血脂代谢异常较其他更为明显。女性ApaⅠ基因型与总胆固醇及低密度脂蛋白水平有关。
Objective: To investigate the distribution and clinical features of vitamin D receptor gene polymorphism in coronary atherosclerosis patients from different sexes in southern Han Chinese. Methods: The genotypes of vitamin D receptor Tru9Ⅰ (rs757343), Apa Ⅰ (rs7975232), Taq Ⅰ (rs731236) and Fok Ⅰ (rs2228570) were detected by Sanger sequencing in 242 patients with coronary atherosclerosis, including 171 males and 71 females. The difference in distribution among different genders and the differences in clinical and biochemical parameters between different gender-related CHD patients were compared. Results: Fok Ⅰ digestion site of vitamin D receptor gene: AA genotypes, AG genotypes and GG genotypes were 22.2%, 48.0% and 29.8% in males and 23.9%, 46.5% and 29.6% in females, respectively , The difference was not statistically significant (P = 0.771,0.834,0.969), allele A / G distribution frequency difference was not statistically significant (P = 0.912); Tru9 Ⅰ restriction sites: AG genotype and GG genotype differences (P = 0.879, 0.281). There was a gender difference in AA genotype frequency (P = 0.037) and no significant difference in allele A / G distribution frequency (P = 0.109) There was no significant difference in AC genotypes and CC genotypes (P = 0.267, 0.993). There was a gender difference in AA genotype frequency (P = 0.047) and no difference in allele A / C frequency distribution (P = 0.404). There was no significant difference in TT genotypes and CT genotypes between TaqⅠconcerning sites (P = 0.903), CC genotypes were not detected, and there was no difference between the genotypes of T allele and T allele P = 0.906). Further comparison of the parameters between the two groups, the results found no significant difference between the age groups, the female patients than men with lower creatinine, fasting blood glucose, coronary artery index and higher total cholesterol, high density (P = 0.001,0.044,0.002,0.002,0.002,0.049, respectively). Hierarchical analysis showed that there was a significant difference in the total cholesterol and LDL levels among different genotypes of female ApaⅠ (P = 0.035,0.027). CONCLUSION: There is no significant difference in frequency of FokⅠand TaqⅠ polymorphism distribution between different genders in coronary atherosclerosis in South China Han population. There is statistical distribution of polymorphisms of Tru9Ⅰ, ApaⅠ There are different clinical characteristics between the two. Female patients with abnormal lipid metabolism are more obvious than the others. Female Apa Ⅰ genotype and total cholesterol and low density lipoprotein levels.