The association of various HLA class II loci with Crohn's disease (CD) and
ulcerative colitis (UC) has yet to be fully elucidated. To determine whethe
r then is an association of HLA class II genes (DR, DQ and DP alleles) with
inflammatory bowel disease (IBD), HLA class II genes for polymorphisms wer
e analyzed at the DNA level in 111 patients with CD, 81 with UC and 525 hea
lthy controls by the polymerase chain reaction-sequence specific oligonucle
otide probe method. Allele and haplotype frequencies were compared between
these populations Results were as follows: 1) the presence of DQB1*0402 (RR
=3.90, P-c=0.0001) was positively associated with CD; 2) the presence of DR
B1*1502 (RR= 4.51, P-c<1x10(-8)), DRB5*0102 (RR= 4.70, P-c<1x10(-8)), DQA1*
0103 (RR=3.72, P-c=1x10(-5)), DRB1*06011 (RR=3.78, P-c=1x10(-4), DPA1*0301
(RR=3.23, P-c=0.0001) and DPB1*0901 (RR=4.83, P-c<1x10-8) was positively as
sociated and that of DRBA*0101B1 (RR=0.20, P-c<1x10(-8)) and DQA1*0302 (RR=
0.34, P-c=0.001) negatively associated with UC; 3) haplotype analysis showe
d a positive association between the presence of DRB1*0410-DQA1*0302-DQB1*0
402 and DRB1*0802 DQA1*0401-DQB1*0402 with CD, and a negative association b
etween the presence of DRB1*1502-DQA1*0103-DQB1*06011 and CD, there was no
association of DRB1*08032 DQA1*0103-DQB1*06011 with CD; and 4) in UC, a pos
itive association with the presence of DRB1*1502-DQA1*0103- was found, but
DRB1*C08032-DQA1*0103-DQB1*06011 was not associated with it. In conclusion,
in CD in the Japanese population, HLA linked disease susceptibility allele
s appear to he DQB1*0402 and DRB1*1502, a disease resistance allele. In UC,
DRB1*1502 appears to be a disease susceptibility allele.