Naslov
Relationship of Polymorphism Located in Tumor Necrosis Factor Region and HLA Loci among Croatians

Autori
Štingl, Katarina ; Grubić, Zorana ; Car, Helena ; Žunec, Renata

Izvornik
American journal of human biology (1042-0533) 21 (2009), 2; 220-223

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
TNF; HLA; population study

Sažetak
Polymorphism of TNFa, TNFb and TNFd microsatellites, linkage disequilibrium (LD) within TNF region as well as relationship of TNF microsatellites with alleles at HLA-A, -B and -DRB1 loci was investigated in this study. A sample of 160 Croatians, previously typed for HLA-A, -B and -DRB1 loci, was tested. Analysis was performed using electrophoresis of PCR products on a polyacrylamide gel in an ALFexpress sequencer. The results of the two-locus and three-locus haplotypic association study of TNF microsatellites were as follows: 1) the most frequent two-locus haplotypic associations were: TNFa10-TNFb4 (12.03% ; LD=2.32), TNFb4-TNFd4 (23.24% ; LD=2.54), and TNFa10-TNFd4 (14.06% ; LD=2.28) ; 2) the strongest LD was found for TNFa2-TNFb1 (LD=3.67 ; P<0.0001), TNFb1-TNFd5 (LD=2.72 ; P=0.0008) and TNFa2-TNFd2 (LD=3.22 ; P<0.00001) ; 3) TNFa10-TNFb4-TNFd4 haplotypic association showed the highest LD (LD=3.36 ; P=0.001) and was also the most frequent one (8.52%), while the highest statistical significance (P<0.00001) was calculated for the TNFa2-TNFb3-TNFd2 combination. Analysis of the relationship of TNF alleles and HLA specificities revealed that very strong associations exist between TNFa2, TNFb3 and TNFd2 alleles and HLA-A*01, -B*08 and -DRB1*03 specificities, therefore placing them in the 8.1 ancestral haplotype. Similar findings were observed for TNFa11, TNFb4 and TNFd4 alleles and HLA specificities which are a part of the 7.3 ancestral haplotype. Finally, multiple associations with significant P values were also observed between TNFa10, TNFb4, and TNFd4 microsatellite alleles and HLA-A*02, -B*18, -DRB1*11 specificities. In conclusion, this investigation revealed haplotypic associations which are characteristic for the Croatian population in addition to the associations which Croatians share with other populations.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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