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Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus

MCF2L2, ADIPOQ and SOX2 genes are located in chromosome 3q26-27, which is linked to diabetic nephropathy (DN). ADIPOQ and SOX2 genetic polymorphisms are found to be associated with DN. In the present study, we first investigated the association between MCF2L2 and DN, and then evaluated effects of th...

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Published in:BMC medical genetics 2010-07, Vol.11 (1), p.116-116, Article 116
Main Authors: Zhang, Dongying, Efendic, Suad, Brismar, Kerstin, Gu, Harvest F
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description MCF2L2, ADIPOQ and SOX2 genes are located in chromosome 3q26-27, which is linked to diabetic nephropathy (DN). ADIPOQ and SOX2 genetic polymorphisms are found to be associated with DN. In the present study, we first investigated the association between MCF2L2 and DN, and then evaluated effects of these three genes on the development of DN. 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.
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ADIPOQ and SOX2 genetic polymorphisms are found to be associated with DN. In the present study, we first investigated the association between MCF2L2 and DN, and then evaluated effects of these three genes on the development of DN. 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.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>20667095</pmid><doi>10.1186/1471-2350-11-116</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record>
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subjects Adiponectin - genetics
Adult
Alleles
Chromosomes, Human, Pair 3
Complications and side effects
Creatinine - metabolism
Cystatins - metabolism
Diabetes Mellitus, Type 1 - complications
Diabetes Mellitus, Type 1 - genetics
Diabetic nephropathies
Diabetic Nephropathies - complications
Diabetic Nephropathies - genetics
Female
Genetic aspects
Genetic polymorphisms
Genotype
Guanine Nucleotide Exchange Factors - genetics
Humans
Kidney Failure, Chronic - complications
Kidney Failure, Chronic - genetics
Male
Medicin och hälsovetenskap
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Rho Guanine Nucleotide Exchange Factors
Risk factors
SOXB1 Transcription Factors - genetics
Type 1 diabetes
title Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus
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