Article
Systematic annotation of celiac disease loci refines pathological pathways and suggests a genetic explanation for increased interferon-gamma levels.
Human molecular genetics - 15 Jan 2015
Kumar Vinod, Gutierrez-Achury Javier, Kanduri Kartiek, Almeida Rodrigo, Hrdlickova Barbara, Zhernakova Daria V, Westra Harm-Jan, Karjalainen Juha, Ricaño-Ponce Isis, Li Yang, Stachurska Anna, Tigchelaar Ettje F, Abdulahad Wayel H, Lähdesmäki Harri, Hofker Marten H, Zhernakova Alexandra, Franke Lude, Lahesmaa Riitta, Wijmenga Cisca, Withoff Sebo
Abstract excerpt
Although genome-wide association studies and fine mapping have identified 39 non-HLA loci associated with celiac disease (CD), it is difficult to pinpoint the functional variants and susceptibility genes in these loci. We applied integrative approaches to annotate and prioritize functional single nucleotide polymorphisms (SNPs), genes and pathways affected in CD. CD-associated SNPs were intersected with...
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