부산대학교 도서관

Homozygosity for a nonsense mutation in the fucosyltransferase 2 ( FUT2) gene ( rs601338G>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'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 < 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. [ABSTRACT FROM AUTHOR]