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

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

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。

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.