Premium
IL ‐1 A rs1800587, IL ‐1 B rs1143634 and IL ‐1 R 1 rs2234650 polymorphisms in I ranian patients with systemic sclerosis
Author(s) -
Abtahi S.,
Farazmand A.,
Mahmoudi M.,
AshrafGanjouei A.,
Javinani A.,
Nazari B.,
Kavosi H.,
Amirzargar A. A.,
Jamshidi A. R.,
Gharibdoost F.
Publication year - 2015
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12212
Subject(s) - haplotype , single nucleotide polymorphism , medicine , genotyping , genotype , allele frequency , pathogenesis , gastroenterology , snp , polymorphism (computer science) , immunology , genotype frequency , case control study , genetics , gene , biology
Summary Systemic Sclerosis ( SS c) is a systemic autoimmune disorder, with ambiguous pathogenesis. Genetic and environmental factors were proved to be correlated with SS c aetiology. Single nucleotide polymorphisms ( SNP s) in cytokine genes can alter the structure and function of the cytokines and consequently may increase the susceptibility to a specific disease. In this study, we investigated SNP s of the IL ‐1 gene cluster in Iranian SS c patients. We obtained blood samples from 170 SS c patients and 213 healthy individuals. Cytokine genotyping results were obtained by polymerase chain reaction with sequence‐specific primers ( PCR ‐ SSP ). IL ‐1A rs1800587, IL ‐1B rs1143634 and IL ‐1R1 rs2234650 were evaluated for SNP study. The frequency of the IL ‐1B rs1143634 CT genotype was significantly lower in SS c patients compared to the controls ( OR = 0.584; 95% CI = 0.385–0.886; P ‐value = 0.023), so we propose that CT genotype of this allele might be protective. According to our haplotype analysis, CCC haplotype frequency is higher in the control group compared to SS c patients ( OR = 1.575; 95% CI = 1.176–2.111; P‐ value = 0.008) and in contrast, CTC haplotype frequency is lower in the control group compared to SS c patients ( OR = 0.152; 95% CI = 0.047–0.484; P‐ value = 0.002), so they might decrease and increase the susceptibility of having SS c, respectively. In addition, we reported two significant diplotypes frequency differences among SS c patients and healthy individuals. It is highly important that there is not much resemblance between the IL ‐1 gene cluster polymorphism in different populations, so we can indicate that SNP s may play critical roles when they are combined with other genetic and environmental factors.