Patatin-like phospholipase domain containing 3基因多型性與第二型糖尿病的巨量白蛋白尿之關聯性
Patatin-like phospholipase domain containing 3基因多型性與第二型糖尿病的巨量白蛋白尿之關聯性
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含有 3 因子多态性的 Patatin 样磷脂酶结构域及其与 2 型糖尿病相关的大量白色蛋白尿的关联
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发表时间：
2009
期刊：
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通讯作者：
張維君
中科院分区：
文献类型：
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作者：
張維君
背景：Patatin-like phospholipase domain containing 3 （PNPLA3）编码脂肪素，脂肪素是一种在脂肪组织中表达的跨膜蛋白。PNPLA3先前报道与肥胖和非酒精性脂肪性肝病（NAFLD）相关。然而，NAFLD和肥胖都与2型糖尿病和慢性肾脏疾病的风险增加有关。我们探讨了PNPLA3 rs738409单核苷酸多态性（SNP）在2型糖尿病发生中的遗传易感性作用，以及该SNP是否与糖尿病蛋白尿的严重程度相关。研究设计与方法：采用病例-对照关联研究对1184人进行评估，其中2型糖尿病患者826例，血糖控制正常者358例。实时荧光定量PCR检测PNPLA3 rs738409多态性，放射免疫法检测尿白蛋白浓度。结果：PNPLA3 rs738409 SNP与2型糖尿病的发生无关。GG组平均尿白蛋白/肌酐比（ACR）显著高于GC组和CC组（615.0±1420.9 vs. 282.8±908.3和218.9±599.4 mg/gm, p=0.001）。PNPLA3 rs738409 SNP与糖尿病蛋白尿状态相关（p =0.004）。多因素logistic回归分析显示，PNPLA3 rs738409 SNP与糖尿病的蛋白尿分期独立相关（大量蛋白尿与正常蛋白尿和微量蛋白尿，p =0.004和p = 0.001）。结论：本研究提示PNPLA3 rs738409 SNP与糖尿病肾病的严重程度相关，尤其是与巨量蛋白尿相关。
Background : Patatin-like phospholipase domain containing 3 (PNPLA3) encodes the adiponutrin which is a transmembrane protein expressed in adipose tissue. PNPLA3 has previously reported associated with obesity and nonalcoholic fatty liver disease (NAFLD). However, NAFLD and obesity were both associated with increased risks of type 2 diabetes and chronic kidney disease. We explored the role of the PNPLA3 rs738409 single nucleotide polymorphism (SNP) in genetic susceptibility on the development of type 2 diabetes, and whether this SNP is associated with the severity of diabetic albuminuria or not. Research design and methods : 1184 individuals were evaluated in a case-control association study, which included 826 patients with type 2 diabetes and 358 normoglycemic control subjects . The rs738409 polymorphism of PNPLA3 was genotyped by real-time PCR, and urine albumin concentration was measured by radioimmunoassay. Results: The PNPLA3 rs738409 SNP was not associated with the development of type 2 diabetes. The mean urine albumin-to-creatinine ratio ( ACR) in the GG group was significantly higher than in the GC and CC groups (615.0±1420.9 vs. 282.8±908.3 and 218.9±599.4 mg/gm, p=0.001). The PNPLA3 rs738409 SNP was associated with diabetic albuminuric status (p =0.004). Multivariate logistic regression analysis showed the PNPLA3 rs738409 SNP to be independently associated with the albuminuric stages of diabetes (macroalbuminuria vs. normoalbuminuria and microalbuminuria, p =0.004 and p = 0.001 ). Conclusions : This study indicates that the PNPLA3 rs738409 SNP is associated with severity of diabetic nephropathy, especially with macroalbuminuria.