%0 Journal Article
%T Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus
%A Dongying Zhang
%A Suad Efendic
%A Kerstin Brismar
%A Harvest F Gu
%J BMC Medical Genetics
%D 2010
%I BioMed Central
%R 10.1186/1471-2350-11-116
%X A total of 1177 type 1 diabetes patients with and without DN from the GoKinD study were genotyped with TaqMan allelic discrimination. All subjects were of European descent.Leu359Ile T/G variant in the MCF2L2 gene was found to be associated with DN in female subjects (P = 0.017, OR = 0.701, 95%CI 0.524-0.938) but not in males. The GG genotype carriers among female patients with DN had tendency decreased creatinine and cystatin levels compared to the carriers with either TT or TG genotypes. This polymorphism MCF2L2-rs7639705 together with SNPs of ADIPOQ-rs266729 and SOX2-rs11915160 had combined effects on decreased risk of DN in females (P = 0.001).The present study provides evidence that MCF2L2, ADIPOQ and SOX2 genetic polymorphisms have effects on the resistance of DN in female T1D patients, and suggests that the linkage with DN in chromosome 3q may be explained by the cumulated genetic effects.The global increase in diabetes prevalence has been accompanied by a rise in a number of patients with diabetic nephropathy (DN). This complication affects 30-40% of the patients with type 1 (T1DM) and type 2 diabetes (T2DM), and has become the most common single cause of end-stage renal disease (ESRD) [1,2]. Evidence has demonstrated that DN has genetic components [3,4]. Therefore, identification of susceptibility or resistance genes in DN will provide better knowledge of pathomechanism and future therapies in this disease [5,6].With the approaches of genome wide scan and linkage analyses, researchers have searched for the linkage to DN along chromosomes. The linkage to DN in chromosome 3q has been evidenced repeatedly in many ethnic groups, and indicated that there reside the susceptibility and/or resistant genes for DN in this chromosomal arm [7-13]. The adiponectin (ADIPOQ) gene is located in chromosome 3q27. Vionnet et al. have analyzed 14 genes including the ADIPOQ gene selected from chromosome 3q and found that a promoter polymorphism rs17300539 (-11391A/G) in the ADIP
%U http://www.biomedcentral.com/1471-2350/11/116