新疆哈萨克族和汉族代谢综合征患者脂蛋白脂酶基因HindⅢ、S447X多态性的相关分析

Association of lipoprotein lipase gene Hind Ⅲ and S447X polymorphisms in metabolic syndrome patients among Kazakh and Han ethnics from Xinjiang

目的 探讨脂蛋白脂酶（LPL）基因Hind Ⅲ、S447X多态性与新疆哈萨克族和汉族人群代谢综合征（MS）及其组分的关系.方法 应用聚合酶链反应-限制性片段长度多态法检测802名研究对象（哈萨克族和汉族MS各200名和对照各201名）的LPL基因Hind Ⅲ、S447X基因多态性.结果 （1）汉族MS组H＋H-/H-H-基因型（32.50%vs.47.76%）、H-等位基因（18.00%vs.28.86%）、SX/XX基因型（8.00%vs.22.39%）、X等位基因（4.00%vs.12.44%）频率低于对照组,P值均＜0.01.（2）哈萨克族MS组H＋H-/H-H-基因型（33.50%vs.45.80%）、H-等位基因（22.00%vs.28.60%）、SX/XX基因型（10.50%vs.22.90%）、X等位基因（5.50%vs.12.44%）频率低于对照组,P值均＜0.01.（3）LPL基因Hind Ⅲ、S447X基因型和等位基因频率在哈萨克族和汉族MS组间的差异无统计学意义（P值均＞0.05）.（4）H＋H-/H-H-基因型携带者、SX/XX基因型携带者腰围、SBP、DBP、甘油三酯、空腹血糖水平分别较H＋H＋基因型携带者和SS基因型携带者低,高密度脂蛋白胆固醇水平分别高于H＋H＋基因型携带者和SS基因型携带者,差异均有统计学意义（P值均＜0.05）.（5）随着MS组分异常的增多,H＋H＋、SS基因型携带率均有不断增加的趋势.结论 LPL基因Hind Ⅲ、S447X多态性与MS的发病风险相关,其中H＋H-/H-H-基因型、H-等位基因、SX/XX基因型、X等位基因可能是MS的保护因素,H＋H-/H-H-和SX/XX基因型对MS各组分产生有益的影响,且随着MS组分异常个数的增加,H＋H＋、SS基因型携带率也相应增加.

Objective To investigate the association of lipoprotein lipase gene Hind Ⅲ and S447X polymorphisms with metabolic syndrome among Kazakh and Han ethnicities in Xinjiang.Methods PCR-RFLP was used to detect 802 subjects＇ lipoprotein lipase Hind Ⅲ and S447Xgenotypes （including 201 controls and 200 metabolic syndrome patients in Kazakh and Han ethnicities, respectively）. Results （1） Frequencies of H ＋ H-/H-H- genotype （32.50% vs.47.76%）, H- allele（ 18.00% vs. 28.86%）, SX/XX genotype （8.00% vs. 22.39%） and X allele （4.00%vs. 12.44% ） for metabolic syndrome in Hah ethnicity were all significantly lower than those in controls （P＜ 0.01 ）. （2） The frequencies of H ＋ H-/H-H- genotype （33.50% vs. 46.80% ）, H- allele （22.00% vs. 28.60%）, SX/XX genotype （10.50% vs. 22.90%） and X allele （5.50% vs. 12.44% ） in patients with metabolic syndrome in Kazakh were all significantly lower than those for controls （P＜0.01）. （3） The frequencies of lipoprotein lipase gene Hind Ⅲ and S447X genotypes and alleles in Kazakh were not significantly different from Han （all P＞0.05）. （4）The levels of waist circumference, systolic blood pressure, diastolic blood pressure, triglyceride and FPG in H ＋ H-/H-H- and SX/XX genotype were significantly lower than those in H ＋ H ＋ and SS genotype.HDL-C was significantly higher than that in H ＋ H ＋ and SS genotype （P＜0.05）. （5） The frequencies of H ＋ H ＋ and SS genotype increased along with the increase in number of metabolic syndrome component. Conclusion The lipoprotein lipase gene Hind Ⅲ and S447X polymorphisms were associated with metabolic syndrome risk in Kazakh, and H ＋ H-/H-H- genotype, H- allele, SX/XX genotype and X allele might have served as protective factors of metabolic syndrome. H ＋ H-/H-H- and SX/XX genotype seemed to have had beneficial effects for all the metabolic syndrome components, and the frequencies of H ＋ H ＋ and SS genotype were increasing along with the increase of number in the metabolic syndrome components.