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Gend Med. 2009 Dec;6(4):555-64. doi: 10.1016/j.genm.2009.11.001.

SOX2 has gender-specific genetic effects on diabetic nephropathy in samples from patients with type 1 diabetes mellitus in the GoKinD study.

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Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.



Sex-determining region Y-box 2 (SOX2) is a transcription factor that plays an important role in the induction of pluripotent stem cells from somatic cells. The SOX2 gene is located in chromosome 3q26.33, in the linkage region of diabetes and diabetic nephropathy (DN). Evidence indicates that SOX2 is expressed in the adult human pancreas.


This study investigated whether SOX2 is involved in the pathogenesis of diabetes and DN.


A genetic association study of the unique tag single nucleotide polymorphism (SNP) rs11915160 of the SOX2 gene was conducted in patients with type 1 diabetes mellitus (T1DM), with or without DN, who were identified from the Genetics of Kidneys in Diabetes (GoKinD) study.


In 1120 patients with T1DM (591 women, 529 men), SNP rs11915160 was found to be significantly associated with DN (odds ratio [OR] = 0.720; P = 0.038) and end-stage renal disease (OR = 0.686; P = 0.034) in women but not in men. Compared with male T1DM patients without DN, female T1DM patients without DN who carried the CC, CA, or AA genotype had reversed distribution patterns in HDL-C, creatinine, cystatin, and glycosylated hemoglobin. Among the female patients with DN, carriers of the AA genotype had lower creatinine and cystatin levels compared with carriers of the CC or CA genotype. Furthermore, this SOX2 genetic polymorphism and the adiponectin promoter polymorphism rs266729 had combined effects on DN.


The present study provides the first evidence that the SOX2 genetic polymorphism has gender-specific effects on DN, and also implies that transcription factors in pluripotency mechanisms may be involved in the pathogenesis of diabetes and DN.

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