title: Is there any relationship between polymorphism of Heat Shock Protein 70 genes and Pemphigus foliaceus?
abstract: The human Heat Shock Proteins (HSP70) family plays a key role in up-regulating stress responses. Some studies reported possible associations of single nucleotide polymorphisms in the HSP70 genes with some autoimmune diseases. However, whether HSP70 polymorphisms represent a risk factor for pemphigus foliaceus (PF) is still unkown. We analyzed by PCR-RFLP polymorphisms of HSP70 genes HSA1A, HSPA1B and HSPA1L in 80 Tunisian patients with PF, 160 matched healthy controls and 147 related healthy subjects. There were significant differences between PF patients and controls in the allelic (pc=5.91×10(-12), pc=1.14×10(-5) and pc=0.0089, respectively) and homozygous genotypic frequencies of HSPA1L>T, HSPA1A>C and HSPA1B>G (p=2.617×10(-12), p=1.017×10(-5) and p=0.0058, respectively). Haplotype analysis showed significant differences between PF patients and controls: the CCA, CGA, CCG and CGG haplotypes were significantly over-represented in controls whereas the TCG haplotype was significantly over-represented in patients. However, the significant LD found between the HSP70 and the HLA class II susceptibility alleles together with the multivariant regression analysis data between the two loci could argue against a direct role of the HSP70 polymorphism in the occurrence of PF.
authors: Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
authors: Amina
authors: A
authors: Toumi
authors: Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
authors: O
authors: O
authors: Abida
authors: Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
authors: M
authors: M
authors: Ben-Ayed
authors: Dermatology Department, Hédi Chaker University Hospital, Sfax, Tunisia.
authors: A
authors: A
authors: Masmoudi
authors: Dermatology Department, Hédi Chaker University Hospital, Sfax, Tunisia.
authors: H
authors: H
authors: Turki
authors: Immunology Department, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia. Electronic address: hatem.masmoudi@yahoo.com.
authors: H
authors: H
authors: Masmoudi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics*; D006239:Haplotypes; D000949:Histocompatibility Antigens Class II / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010392:Pemphigus / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055815:Young Adult
chemical_list: D018840:HSP70 Heat-Shock Proteins; D000949:Histocompatibility Antigens Class II
keywords: Gene; HLA-DR3; Heat Shock Protein 70; Pemphigus foliaceus; Polymorphism; Tunisia