Open AccessHLA Class III: A susceptibility region to systemic lupus erythematosus in Tunisian population
Author(s) -
H. Hachicha,
N. Mahfoudh,
H. Fourati,
Nada Elloumi,
S. Marzouk,
S. Feki,
R. Fakhfakh,
F. Frikha,
Abir Ayadi,
Ahmed Maatoug,
Lilia Gaddour,
Faiza Hakim,
Z. Bahloul,
H. Makni,
Hatem Masmoudi,
A. Kammoun
Publication year - 2018
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0198549
Subject(s) - microsatellite , haplotype , allele , genetics , locus (genetics) , human leukocyte antigen , biology , major histocompatibility complex , immunology , population , immune system , medicine , gene , antigen , environmental health
Background and objectives Short tandem repeats (STR) are usually used as informative polymorphic markers for genetic mapping and for disease susceptibility analysis. The involvement of these microsatellite markers localized in the MHC region was reported in many auto-immune diseases. In this study we analyzed for the first time eight polymorphisms of microsatellite loci at the HLA region: D6S291, D6S273, TNFa, b and c, MICA, D6S265 and D6S276, in Tunisian systemic lupus erythematosus (SLE) patients. Materials and methods We performed a case control study in which the microsatellite loci were amplified using specific primers labeled with NED, VIC, PET or 6-FAM and analyzed using GeneScan software 3.7. For the statistical analysis, we used SPSS software and we performed a sub-haplotype scoring test using the haplo.stats software developed in the R language. Results We found that two mean associated regions existed; the most statistically significant encompassed the 3 TNF markers (p = 0.0003, OR = 19.34); the latter covered the DR region. In fact, when scoring haplotypes in 3 marker- sliding windows, the p value increased as we moved away from the TNF region and decreased again when we approached the DRB1 locus. We also established for the first time the negative association between alleles of D6S291 and SLE. The majority of clinical and serological correlations were noted with TNF alleles. Conclusion Our results confirm the association between TNF and DRB1 polymorphisms and SLE. The association between alleles of D6S291 and SLE needs however to be verified by the analysis of other markers beyond this region.