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Pregled bibliografske jedinice broj: 705399

Protective and predisposing HLA class I and class II haplotypes in diabetic families from Eastern Croatia: a pilot study


Tokić, Stana; Marczi, Saška; Štefanić, Mario; Glavaš- Obrovac, Ljubica; Mihaljević, Ivan
Protective and predisposing HLA class I and class II haplotypes in diabetic families from Eastern Croatia: a pilot study // Tissue Antigens, 2014, Vol.84(1):5-175 / McCluskey, James (ur.).
Oxford, UK: John Wiley & Sons, Ltd., 2014. str. 158-158 (poster, međunarodna recenzija, sažetak, znanstveni)


Naslov
Protective and predisposing HLA class I and class II haplotypes in diabetic families from Eastern Croatia: a pilot study

Autori
Tokić, Stana ; Marczi, Saška ; Štefanić, Mario ; Glavaš- Obrovac, Ljubica ; Mihaljević, Ivan

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Tissue Antigens, 2014, Vol.84(1):5-175 / McCluskey, James - Oxford, UK : John Wiley & Sons, Ltd., 2014, 158-158

Skup
The 28th European Immunogenetics and Histocompatibility Conference

Mjesto i datum
Stockholm, Švedska, 25-28.06.2014

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
T1D ; HLA-A ; -B ; -DRB1 ; -DQB1 ; PCR-SSP ; Eastern Croatia

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
219-2190372-2068 - Polimorfizmi u genu za vitamin D receptor u psorijazi i atopijskom dermatitisu (Mario Štefanić, )

Ustanove
Klinički bolnički centar Osijek,
Akademija medicinskih znanosti,
Medicinski fakultet, Osijek,
Sveučilište J. J. Strossmayera u Osijeku

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE