Abstract
A recent genome-wide scan of nonsynonymous SNPs and ulterior validation in case-control and family analyses evidenced a susceptibility locus for type 1 diabetes (T1D) on chromosome 2q24.3. We aimed at testing the effect of this locus in other autoimmune diseases with complex genetic background, such as multiple sclerosis (MS). Four SNPs along the locus, rs13422767, rs2111485, rs1990760 and rs2068330, were genotyped using TaqMan MGB chemistry in 311 T1D and 412 MS patients and 535 ethnically matched healthy controls. The previously reported association of this locus was found for the first time in MS (rs2068330, G vs C: P=0.001; OR (95% CI)=0.73 (0.6–0.88)) and a trend for replication was observed in our Spanish diabetic cohort. Therefore, genes included in this locus – IFIH1 interferon induced helicase, GCA grancalcin or the potassium channel KCNH7 – are potential candidates implicated in the pathogenesis of these autoimmune diseases, although strong linkage disequilibrium in the region hampered further localization of the etiologic gene.
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Acknowledgements
We thank Carmen Martínez for her skilful technical assistance. Alfonso Martínez and Jose Luis Santiago are recipients of FIS contracts (CP04/00175 and CM05/00216, respectively). Elena Urcelay works for the ‘Fundación para la Investigación Biomédica-Hospital Clínico San Carlos’. This work was supported by grants from: FIS PI070369, FIS PI070353 and FIS PI051221.
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Martínez, A., Santiago, J., Cénit, M. et al. IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Eur J Hum Genet 16, 861–864 (2008). https://doi.org/10.1038/ejhg.2008.16
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DOI: https://doi.org/10.1038/ejhg.2008.16
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