Association of Nephrin Gene Polymorphisms With Type 2 Diabetes in a Japanese Population: The Funagata Study

Nephrin is a major component of the glomerular filtration barrier, and its expression was at first thought to be specific to kidney glomerular podocytes (1). However, it was later found in nonrenal tissues, such as the pancreas (2–4), as well. Several studies (2,3,5) have shown the expression of nephrin in human pancreatic islet cells. Therefore, nephrin may play some roles in the pancreatic islet and, thus, may be involved in the pathophysiology leading to diabetes. We here examined the association of the nephrin gene polymorphisms with type 2 diabetes. The associations of three single nucleotide polymorphisms (SNPs) (C294T, −61C/G, and C2289T) of the nephrin gene with diabetes were examined using two (first and second) sample sets (diabetes, n = 72 and 31, respectively; impaired glucose tolerance [IGT], n = 75 and 77, respectively; and normal glucose tolerance [NGT], n = 227 and 244, respectively) from the cohort population of the Funagata Study, a Japanese community-based study (6). The study conditions were the same as those in our previous report (7). Three SNPs in the nephrin gene (C to T at nucleotide position 294 in exon 3 from the translation intitiation codon ATG (C294T) (JSNP database ID: IMS-JST 035656), C to G in intron 5 at nucleotide position 61 upstream from the intron 5/exon 6 splicing site …