| Summary: | 碩士 === 高雄醫學大學 === 醫學遺傳學研究所 === 97 === 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.
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