Confirmation of novel type 1 diabetes risk loci in families View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-04

AUTHORS

J. D. Cooper, J. M. M. Howson, D. Smyth, N. M. Walker, H. Stevens, J. H. M. Yang, J.-X. She, G. S. Eisenbarth, M. Rewers, J. A. Todd, B. Akolkar, P. Concannon, H. A. Erlich, C. Julier, G. Morahan, J. Nerup, C. Nierras, F. Pociot, S. S. Rich, the Type 1 Diabetes Genetics Consortium

ABSTRACT

AIMS/HYPOTHESIS: Over 50 regions of the genome have been associated with type 1 diabetes risk, mainly using large case/control collections. In a recent genome-wide association (GWA) study, 18 novel susceptibility loci were identified and replicated, including replication evidence from 2,319 families. Here, we, the Type 1 Diabetes Genetics Consortium (T1DGC), aimed to exclude the possibility that any of the 18 loci were false-positives due to population stratification by significantly increasing the statistical power of our family study. METHODS: We genotyped the most disease-predicting single-nucleotide polymorphisms at the 18 susceptibility loci in 3,108 families and used existing genotype data for 2,319 families from the original study, providing 7,013 parent-child trios for analysis. We tested for association using the transmission disequilibrium test. RESULTS: Seventeen of the 18 susceptibility loci reached nominal levels of significance (p < 0.05) in the expanded family collection, with 14q24.1 just falling short (p = 0.055). When we allowed for multiple testing, ten of the 17 nominally significant loci reached the required level of significance (p < 2.8 × 10(-3)). All susceptibility loci had consistent direction of effects with the original study. CONCLUSIONS/INTERPRETATION: The results for the novel GWA study-identified loci are genuine and not due to population stratification. The next step, namely correlation of the most disease-associated genotypes with phenotypes, such as RNA and protein expression analyses for the candidate genes within or near each of the susceptibility regions, can now proceed. More... »

PAGES

996-1000

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00125-012-2450-3

DOI

http://dx.doi.org/10.1007/s00125-012-2450-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024436618

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22278338


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