Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population

作者：Parmar A S; Alakulppi N; Paavola Sakki P; Kurppa K; Halme L; Farkkila M; Turunen U; Lappalainen M; Kontula K; Kaukinen K; Maki M; Lindfors K; Partanen J; Sistonen P; Matto J; Wacklin P; Saavalainen P; Einarsdottir E^*

来源：Tissue Antigens, 2012, 80(6): 488-493.

DOI：10.1111/tan.12016

• celiac disease
• fucosyltransferase 2
• inflammatory bowel disease
• microbiota

Homozygosity for a nonsense mutation in the fucosyltransferase 2 (FUT2) gene (rs601338G%26gt;A) leads to the absence of ABH blood groups (FUT2 non-secretor status) in body fluids. As the secretor status has been shown to be a major determinant for the gut microbial spectrum, assumed to be important in the gut immune homeostasis, we studied the association of rs601338-FUT2 with celiac disease (CelD) and inflammatory bowel disease (IBD) in the Finnish population. Rs601338 was genotyped in CelD (n = 909), dermatitis herpetiformis (DH) (n = 116), ulcerative colitis (UC) (n = 496) and Crohn%26apos;s disease (CD) (n = 280) patients and healthy controls (n = 2738). CelD showed significant genotypic [P = 0.0074, odds ratio (OR): 1.28] and recessive (P = 0.015, OR: 1.28) association with the rs601338-AA genotype. This was also found in the combined CelD+DH dataset (genotype association: P = 0.0060, OR: 1.28; recessive association: P %26lt; 0.011, OR: 1.28). The A allele of rs601338 showed nominal association with dominant protection from UC (P = 0.044, OR: 0.82) and UC+CD (P = 0.035, OR: 0.84). The frequency of non-secretors (rs601338-GG) in controls, CelD, DH, UC and CD datasets was 14.7%, 18%, 18.1%, 14.3% and 16.1%, respectively. No association was evident in the DH or CD datasets alone. In conclusion, FUT2 non-secretor status is associated with CelD susceptibility and FUT2 secretor status may also play a role in IBD in the Finnish population.

• 出版日期2012-12