The @entity6 predisposing effect of HLA genes is defined by a complex interaction of various haplotypes. We analyzed the disease association of @entity53852 - @entity3098 genotypes in a large nuclear family cohort (n = 622) collected in Finland. Using the affected family based artificial control approach we aimed at characterizing all detectable disease-specific HLA haplotype and genotype effects. The @entity1533 *0401- @entity3098 *0302 haplotype was the most prevalent disease susceptibility haplotype in the Finnish population followed by ( @entity4106 )-DQA1*05- @entity3098 *02 and @entity1533 *0404- @entity3098 *0302. @entity1533 *0405- @entity3098 *0302 conferred the highest disease risk, although this haplotype was very rare. The @entity1533 *04- @entity3098 *0304 was also associated with increased disease risk, an effect detected for the first time in the Finnish population. The following haplotypes showed significant protection from the disease and are listed in decreasing order of the strength of their effect: ( @entity6103 )-DQA1*0201- @entity3098 *0303, (DR14)- @entity3098 *0503, (DR15)- @entity3098 *0602, @entity1533 *0403- @entity3098 *0302, (DR13)- @entity3098 *0603, ( @entity23044 /12/13)-DQA1*05- @entity3098 *0301, ( @entity5958 )- @entity3098 *0501. In addition to the @entity1533 *0401/0404- @entity3098 *0302/( @entity4106 )-DQA1*05- @entity3098 *02 genotype and @entity1533 *04- @entity3098 *0302 homozygous genotypes, heterozygous combinations @entity1533 *0401- @entity3098 *0302/(DR13)- @entity3098 *0604, approximately /(DR8)- @entity3098 *04, approximately /( @entity21661 )-DQA1*03- @entity3098 *0303, approximately /( @entity5958 )- @entity3098 *0501 and approximately /( @entity6103 )-DQA1*0201- @entity3098 *02 were also disease-associated. As a new finding in this population, the ( @entity4106 )-DQA1*05- @entity3098 *02 homozygous and ( @entity4106 )-DQA1*05- @entity3098 *02/( @entity21661 )-DQA1*03- @entity3098 *0303 heterozygous genotypes conferred disease susceptibility. Similarly, the @entity1533 *0401- @entity3098 *0302/(DR13)- @entity3098 *0603 genotype was disease predisposing, implying that DQB*0603-mediated protection from @entity6 is not always dominant. Comparison of our findings with published data from other populations indicates a significant disease-specific heterogeneity of the (DR8)- @entity3098 *04, ( @entity6103 )-DQA1*0201- @entity3098 *02 and ( @entity4106 )-DQA1*05- @entity3098 *02 haplotypes.

HLA DR-DQ-encoded genetic determinants of childhood-onset type 1 XXXX in Finland: an analysis of 622 nuclear families.

@entity23044 :: ('55717', 'Gene') :: ['DR11'] @entity53852 :: ('3123;3117', 'Gene') :: ['HLA DRB1-DQA1'] @entity4106 :: ('8718', 'Gene') :: ['DR3'] @entity6 :: ('MESH:D003920', 'Disease') :: ['diabetes'] @entity3098 :: ('3119', 'Gene') :: ['DQB1'] @entity5958 :: ('1810', 'Gene') :: ['DR1'] @entity21661 :: ('3127', 'Gene') :: ['DR9'] @entity1533 :: ('3123', 'Gene') :: ['DRB1'] @entity6103 :: ('3125', 'Gene') :: ['DR7']
@entity6 :: (MESH:D003920,Disease) :: ['diabetes']
