对氧磷脂酶1、2基因多态性与2型糖尿病肾病相关性研究

 目的 探讨对氧磷脂酶(paraoxonase,PON)PON1R192Q及PON2C311S多态性与糖尿病肾病(diabetic nephropathy,DN)的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测210例2型糖尿病(type 2 diabetic mellitus,T2DM)(其中DN患者113例,非DN患者97例)及105例健康人的PON1R192Q、PON2C311S基因多态性.结果 R等位基因与DN发生无直接相关性(OR:1.65;95%CI 0.93-2.92,P=0.09);C等位基因与DN发生相关(OR:2.99;95%CI 1.67-5.34,P=0.00),CC基因型是DN发生独立危险因素.RR基因与SC+CC基因共存时,能进一步提高DN发生危险性(OR:3.38;95%CI 1.50-7.55,P=0.00).结论 PON2C311S多态性与DN相关,C等位基因是DN发生的一个易感基因;PON1 R192Q多态性与DN无直接的相关性,但RR基因型与CC型在DN的发生中可能有协同作用.

Relationship between PON1,PON2 polymorphism and type 2 diabetic nephropathy

Objective To study whether the PON1R192Q and PON2 C311S polymorphism is associated with the pathogenesis of diabetic nephropathy(DN).Methods 210 patients with type 2 diabetes mellitus(with DN 113 patients,without DN 97 patients) and 105 healthy subjects as controls were recruited in the study.PON1R192Q、PON2C311S genotype distribution and allele frequency were examined by polymerase chain reaction - restriction fragment length polymorphism(PCR - RFLP).Results The polymorphism of PON1R192Q is not associated with DN(OR:1.65,95%CI:0.93 -2.92,P =0.09),the C allele of PON2 is one of risk factors of DN (OR:2.99,95%CI;1.67 -5.34,P =0.00),the coexistence RR genotype with SC +CC genotype are associated with increased risk of DN(OR:3.38,95%CI:1.50 -7.55,P = 0.00).Conclusions PON2 C311S polymorphism is associated with the pathogenesis of DN.Diabetec patients with C allele are susceptible to DN than those without C allele.PON1R192Q polymorphism is not associated with DN,but the coexistent RR genotype with SC + CC genotype are associated with increased risk of DN