Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach.

Background: Many lines of evidence highlight the genetic contribution on the development of diabetic nephropathy (DN). One of the studied genes is whose the role in the risk of developing DN remains questionable. In order to elucidate the contribution of in DN progression in the context of type 2 diabetes mellitus (T2DM), we conducted an association study and meta-analysis of genetic variants.

Materials And Methods: A total of 190 patients with DN, 150 T2DM (type 2 diabetes mellitus) patients without DN and 238 healthy controls were recruited. We selected five tag single-nucleotide polymorphisms (SNPs) from the HapMap. The generalized odds ratio (OR) was calculated to estimate the risk on DN development. Subgroup analyses based on ethnicity and type of diabetes were also performed.

Results: Both the present association study regarding SNPs (rs2227667, rs2070682, rs1050813, rs2227690, rs2227692) did not found any significant association between variants and DN and the meta-analysis of variant 4G>5G (rs1799889) did not also reveal a significant association between 4G>5G variant and DN in main and subgroup analyses.

Discussion: In conclusion, the present association study and meta-analysis provides strong evidence that genetic variant 4G>5G is not implicated in the risk or development of DN in Caucasians. Further studies in other populations remain to further investigate the role of this variant in the course of DN.