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Chunk #17 — Results and Discussion

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Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
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SNPs on chromosomes 3p21.31, 6q15, 6q25.3 and 1q24.3 showed preliminary, suggestive evidence for association with MC (uncorrected p-value <0.01), with the smallest p-values observed at chromosomes 6q15 (rs285640 p-value = 0.00058) and 6q25.3 (rs1738074 p-value = 0.00044). The 6q15 region is located within an intron of BACH2. BACH2 codes for a transcription regulator protein with a role in the regulation of B cells. In addition to its known association with celiac disease, it is also associated with ulcerative colitis, Crohn's disease, and Type I diabetes mellitus.[19] At 6q25.3, the SNP rs1730874 was among the celiac associated SNPs shown in Table 1 and it is located in the five prime untranslated region (5′ UTR) of TAGAP, a gene coding for a GTPase-activating protein that is involved in T-cell activation. This SNP, in addition to its association with celiac disease, is associated with ulcerative colitis, particularly in ulcerative colitis patients with a family history of the disease.[20]