rs11875687 - PTPN2

Magnitude 2.2 · 1 study on file

Reported associations

  • Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease - Unknown journal (n.d.) · Unknown authors · PubMed 22057235

    ABSTRACT: We densely genotyped, using 1000 Genomes Project pilot CEU and additional re-sequencing study variants, 183 reported immune-mediated disease non-HLA risk loci in 12,041 celiac disease cases and 12,228 controls. We identified 13 new celiac disease risk loci at genome wide significance, bringing the total number of known loci (including HLA) to 40. Multiple independent association signals are found at over a third of these loci, attributable to a combination of common, low frequency, and rare genetic variants. In comparison with previously available data such as HapMap3, our dense genotyping in a large sample size provided increased resolution of the pattern of linkage disequilibrium, and suggested localization of many signals to finer scale regions. In particular, 29 of 54 fine-ma


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