Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder

Molecular Genetics and Metabolism
Takanori KawamotoMasahiko Mikuni

Abstract

Diabetic and psychiatric symptoms often appear in patients with Wolfram syndrome, and obligate carriers of WFS1 have increased prevalence of type 2 diabetes and are more likely to require hospitalization for psychiatric illness including bipolar disorder. To identify the polymorphisms in Japanese, we examined a region of approximately 50 kb covering the entire WFS1 gene, and evaluated the patterns of linkage disequilibrium. We found a total of 42 variations including 8 novel coding single nucleotide polymorphisms (A6T, A134A, N159N, T170T, E237K, R383C, V412L, and V503G), 14 novel non-coding polymorphisms, and 2 linkage disequilibrium blocks. We also performed association studies in patients with type 2 diabetes mellitus and patients with bipolar disorder. The haplotype comprising R456 and H611 was most associated with type 2 diabetes (p = 0.013) and the haplotype comprising g. -15503C/T and g. 16226G/A was most associated with bipolar disorder (p = 0.006), but neither reached significant difference after multiple adjustment. These genetic variations and linkage disequilibrium patterns in WFS1 in Japanese should be useful in further investigation of genetic diversities of WFS1 and various related disorders.

References

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Citations

Jan 14, 2012·Journal of the Chinese Medical Association : JCMA·Ben-Chih YuanKuo-Hsun Chiu
Jun 12, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·R ValéroB Vialettes
May 8, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Reka Kovacs-NagyZsolt Ronai
Aug 27, 2010·Clinical Genetics·L RigoliC Di Bella
Jun 28, 2014·Progress in Neuro-psychopharmacology & Biological Psychiatry·Ajaykumar N SharmaJair C Soares
Aug 4, 2005·Annals of Clinical Psychiatry : Official Journal of the American Academy of Clinical Psychiatrists·Roger S McIntyreSidney H Kennedy

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