CAPN10基因变异与中国北方汉族人群血脂水平的关联研究

目的探讨CAPN10基因变异与中国北方汉族人群血脂水平的关系。方法研究选择427例2型糖尿病合并高血压个体以及547例年龄、性别相匹配的正常对照。所有个体均为中国北方汉族人,均未服用调脂药物。应用多聚酶链式反应-限制性片段长度多态性的方法对CAPN10基因的SNP-44、43、19、63多态进行基因型鉴定。结果应用线性回归模型校正年龄、性别和体重指数的作用,比较不同基因型和双体型个体的血脂水平差异。在病例组中,甘油三酯（TG）水平在SNP-63 CC纯合子个体和T等位基因携带者中有边缘性差异（P=0.05）。在对照组中,SNP-19多态11纯合子个体的TG水平高于等位基因2的携带者,但未达到统计学显著性（P=0.06）,而SNP-63 T等位基因亦有增高对照个体的TG水平的倾向,但在加性、显性和隐性模型中均未达到统计学显著性（P值分别为0.07,0.07和0.06）。在病例组和对照组中6种常见双体型个体的血脂水平均无统计学差异。结论CAPN10基因多态可能不是我国北方汉族人群血脂异常的主要危险因素。

Association study of CAPN10 gene polymorphisms with lipid level in northern Han Chinese population

Objective The present study focused on the association of polymorphisms in CAPNIO gene with lipid level in northern Chinese population. Methods We selected 427 patients with type 2 diabetes and hypertension and 547 ageand sex-matched normal controls. All participants are unrelated Han population from the northern area of China. All subjects have not taken medication to regulate lipids. The polymerase chain reaction-restriction fragment length polymorphism method was used to genotype the SNP-44, - 43, -19 and -63 in the CAPN10 gene. Results The general linear model was used to test lipid traits for differences among genotypic or diplotypic groups adjusting for covariates including age, gender, and body mass index （BMI）. In case group, there was a marginal difference in the triglyceride （TG） level between SNP-63 CC homozygotes and carriers of the T allele （P = 0. 05 ）. In control group, subjects with SNP-19 11 genotype had tendency to increase the TG level in dominant model （P = 0.06）. Similarly, SNP-63 T allele had tendency, but not significantly, to increase the TG level in three models （in additive, dominant and recessive models, P value was 0.07,0.07 and 0.06, respectively）. There were no associations of these 6 common diplotypes with the lipid levels. Conclusion CAPN10 gene variations may be not major risk factors of dyslipidemia in northern Han Chinese population.