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Human Molecular Genetics Advance Access originally published online on October 16, 2008
Human Molecular Genetics 2009 18(2):358-365; doi:10.1093/hmg/ddn342
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells

Siyang Liu1,{dagger}, Hongjie Wang1,{dagger}, Yulan Jin1,{dagger}, Robert Podolsky1,2, MV Prasad Linga Reddy1, Jennifer Pedersen1,2, Bruce Bode5, John Reed6, Dennis Steed6, Steve Anderson7, Ping Yang1, Andy Muir1,3, Leigh Steed1, Diane Hopkins1, Yihua Huang1,4, Sharad Purohit1, Cong-Yi Wang1,4, Andrea K. Steck8, Annalisa Montemari1, George Eisenbarth8, Marian Rewers8 and Jin-Xiong She1,4,*

1 Center for Biotechnology and Genomic Medicine 2 Department of Medicine 3 Department of Pediatrics 4 Department of Pathology, Medical College of Georgia, Augusta, GA 30912, USA 5 Atlanta Diabetes Associates, Atlanta, GA, USA 6 Southeast Endocrine Clinics, Atlanta, GA, USA 7 Pediatric Diabetes, Atlanta, GA, USA 8 Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, Mail Stop A140, PO Box 6511, Aurora, CO 80045-6511, USA

* To whom correspondence should be addressed at: Center for Biotechnology and Genomic Medicine, Medical College of Georgia, 1120 15th Street, Augusta, GA 30912, USA. Tel: +1 7067213410; Fax: +1 7067213688; Email: jshe{at}mail.mcg.edu

Received September 18, 2008; Revised September 18, 2008; Accepted October 14, 2008

Genome-wide association (GWA) studies revealed a number of single nucleotide polymorphisms (SNPs) significantly associated with type 1 diabetes (T1D). In an attempt to confirm some of these candidate associations, we genotyped 2046 Caucasian patients and 2417 normal controls from the United States for SNPs in five genomic regions. While no evidence was obtained for four genomic regions (rs2929366/NM_144715 on chromosome 3, rs9127/Q7Z4C4 on chromosome 5, rs1445898/CAPSL on chromosome 5 and rs2302188/NM_033543 on chromosome 19), we provide strong evidence for association between T1D and multiple SNPs in the IFIH1 linkage disequilibrium (LD) block on chromosome 2q. Among the 10 SNPs genotyped for the 2q region, four SNPs located within the IFIH1 gene or at the 5' region of IFIH1 showed significant association with T1D in the Georgia population [odds ratio (OR) = 1.7–1.9] with the best P-value found at SNP rs1990760 (P = 8 x 10–8 and OR = 1.9). Several SNPs outside of the IFIH1 gene also showed significant but weaker associations. Furthermore, IFIH1 gene expression levels in peripheral blood mononuclear cells are significantly correlated with IFIH1 genotypes, and higher IFIH1 levels are found in individuals with the susceptible genotypes (P = 0.005). Thus, both genetic association and gene expression data suggest that IFIH1 is the most plausible candidate gene implicated in T1D in this LD block.

{dagger}These authors contributed equally to this study.


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