性别特异性高胆固醇血症与Syndecan-3(SDC3)基因C1330T多态性的关联研究

目的研究syndecan-3(SDC3)基因的单核苷酸多态性(single-nucleotide polymorphism,SNP)C1330T在中国汉族农村人群中与高胆固醇血症,血脂水平的相关性。方法高胆固醇血症(HTC)定义为血清中总胆固醇水平≥200 mg/dL。本研究中男性336人(其中HTC161人,胆固醇正常者(NTC)175人),女性1491人(其中HTC935人,NTC556人)。研究对象中应用多聚酶链反应(PCR),限制性内切酶酶切进行基因分型,测定血清高密度脂蛋白(HDL-C),低密度脂蛋白(LDL-C),总胆固醇(TC),甘油三脂(TG),葡萄糖(GLU)。结果在男性研究对象中SDC3基因C1330T基因型及等位基因频率在HTC组和NTC组的分布有显著性差异(P<0.05),1330C与高胆固醇血症相关(OR=1.42,95%CI=1.040-1.926,P<0.03),在校正年龄,BMI和其他危险因素(吸烟饮酒等)后仍保持显著相关(OR=1.51,95%CI=1.06-2.14,P<0.03),而在女性研究对象中未发现明显相关(OR=1.06,95%CI=0.92-1.24,P=0.41),1330C与性别的交互作用呈临界统计学显著性(borderline statistically significant)(P=0.0742)。进一步应用显性模型分析C1330T与男性血脂水平(HDL-C,LDL-C)相关。结论SDC3基因C1330T多态性与男性高胆固醇血症及血脂水平有关。

Gender-specific Effect of the C1330T Polymorphism in Syndecan-3 (SDC3) Gene on Hypercholesterolemia

Objective To investigate the relationship between single nucleotide polymorphism(SNP) C1330T of syndecan-3(SDC3) gene and hypercholesterolemia,lipid profile in a Chinese rural population.Methods Hypercholesterolemia(HTC) was defined as serum total cholesterol equal to or more than 200 mg/dL.Genotyping for C1330T was completed by using PCR,restrictive enzyme digestion,and sequencing in 336 males(HTC 161,normal total cholesterol(NTC) 175),1491 females(HTC 935, NTC 556).Serum total cholesterol(TC),HDL-cholesterol(HDL-C),LDL-cholesterol(LDL-C),triglyceride(TG),glucose(Glu) level were measured.Results The significant difference of distribution of C1330T was observed between HTC and NTC in males.1330C was associated with HTC in men(odds ratios(OR)=1.42,95% confidence intervals(CI)=1.040-1.926,P< 0.03),but not in women(OR=1.06,95%CI=0.92-1.24,P=0.41). After adjusted by age,body mass index(BMI) and other conventional risk factors,the association remained in men.For 1330C,there was a borderline statistically significant allele*gender interaction(P=0.0742).The association between C1330T and serum HDL-C,LDL-C level were observed in men.Conclusion The distribution of C1330T of SDC3 gene was associated with hypercholesterolemia,lipid profile in men.