Protective and predisposing HLA class I and class II haplotypes in diabetic families from Eastern Croatia: a pilot study (CROSBI ID 612931)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Tokić, Stana ; Marczi, Saška ; Štefanić, Mario ; Glavaš- Obrovac, Ljubica ; Mihaljević, Ivan
engleski
Protective and predisposing HLA class I and class II haplotypes in diabetic families from Eastern Croatia: a pilot study
Human leukocyte antigen (HLA) genes are major genetic determinants of type I diabetes (T1D) susceptibility, with variable predispositional effects across populations. In order to examine the extent of haplotypic risk and the patterns of HLA associations with T1D in the population of East Croatia, A, B, DRB1 and DQB1 loci were typed at low resolution using sequence-specific primer PCR methodology. Single and multipoint genetic associations were assessed through transmission disequilibrium testing of multilocus haplotypes in 13 nuclear families (55 subjects), estimated according to the expectation-maximization algorithm. Empirical P- values and pairwise linkage disequilibrium measures were obtained. No Mendelian errors were detected. Generally, DQB1*02, DQ8 and DQ7 were commonly inherited in cis with DRB1*03, DRB1*04 and DRB1*11, respectively. The most frequent (10%) ancestral haplotype (A1-B8-DR3-DQ2) was not associated with risk of T1D. DQ8 allele and two-locus (permuted P=0.047) DRB1*04-DQB1*DQ8 haplotype (85.7% transmission, p=0.0049, RR=6.0) were preferentially transmitted to affected probands, indicating the robust diabetogenic effect of these alleles. Conversely, DQ7 allele (14.3% transmission, p=0.047, RR=0.17) and B*18- DRB1*11- DQ7 haplotype (no transmissions, p=0.0018) were nominally highly protective, being significantly less transmitted to diabetic children. These findings confirm DRB1*04-DQ8 and DRB1*11-DQ7 as major HLA determinants of T1D susceptibility in Eastern Croatia. Sample size enlargement, DQA1 loci typing and high resolution testing are required for in-depth information on hierarchy of risk effects at the DR-DQ haplotype levels.
T1D ; HLA-A ; -B ; -DRB1 ; -DQB1 ; PCR-SSP ; Eastern Croatia
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Podaci o prilogu
158-158.
2014.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Tissue antigens
McCluskey, James
Oxford: John Wiley & Sons
0001-2815
1399-0039
Podaci o skupu
The 28th European Immunogenetics and Histocompatibility Conference
poster
25.06.2014-28.06.2014
Stockholm, Švedska
Povezanost rada
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti