ABSTRACT
Background: Ankylosing Spondylitis [AS] is a chronic autoinflammatory Spondyloarthropathy [SpA] which is characterized by sacroiliitis, which progresses to the axial skeleton. It seems that non-Human Leukocyte Antigen [HLA] and also HLA-B27 are associated with the susceptibility and pathogenesis of the disease. The recent Genome- Wide Association Studies [GWASs] have reported intergenic rs6759298 to be associated with AS etiology. The aim of this study was investigation of the rs6759298 polymorphism in Iranian AS patients. In addition, probable correlations with clinical indices and manifestations were considered
Methods: This study included 403 patients with AS. The control group consisted of 506 healthy individuals who were matched for sex, age, and ethnicity with AS group. Genotyping of rs6759298 was determined using the Amplification-Refractory Mutation System-Polymerase Chain Reaction [ARMS-PCR]
Results: The GG genotype and G allele were found to be significantly more prevalent in the patient group in comparison to the control group [[p=2×10[-6] and 7.44×10[-9]; OR [95% CI] =2.16 [1.56-2.98] and 1.73 [1.43-2.08]],respectively
Conclusion: No associations were found between patients with three genotypes and any disease manifestations or clinical indices. This investigation confirmed a highly significant association of rs6759298 with disease susceptibility, with no effect on disease progress or clinical presentations. Since rs6759298 belongs to the 2p15 gene desert, further studies would elucidate the exact role of this polymorphism in the pathogenesis of AS
ABSTRACT
Irritable Bowel Syndrome [IBS] is a functional gastrointestinal disorder, characterized by recurrent abdominal pain and altered bowel habits. This study was performed to investigate the important role of interleukin-12 [IL-12] in intestinal inflammation. For this study seventy one patients with IBS and 140 controls were investigated. The allele and genotype frequencies of IL-12 C[-1188]A were determined using polymerase chain reaction with sequence-specific primers. The allele A was more common that the allele C in both groups of patients and controls. There was not any significant difference on IL-12 alleles and genotypes between patients and controls. The AA genotype was the most common genotypes, which was seen in 57.4% of the patients and 51.4% of the controls [p=0.53]. Although frequency of the CC genotype in the control group was lower than the patient group, this difference was not significant [5.7% vs. 11.5%, respectively, p=0.16]. Considering the lack of association between IL-12 C[-1188]A polymorphism and IBS, this cytokine gene polymorphism may not have significant role in the pathophysiology of disease
Subject(s)
Humans , Male , Female , Polymorphism, Genetic , Interleukin-12 , Polymerase Chain ReactionABSTRACT
The human leukocyte antigen-B27 is one of the class I molecules of the major histocompatibility complex which is strongly associated with ankylosing spondylitis [AS]. The strength of the disease association with B27 varies markedly among racial and ethnic populations. It is an allele family, which constitutes about 31 subtypes, with a considerable geographic and ethnic difference in distribution. It is important to know whether certain subtypes show any preferential association with AS. Because there is no report regarding HLA-B27 subtypes in Iranian patients with AS, main purpose of the present study was to assess the frequency of subtypes of human leukocyte antigen [HLA]-B27 in patients with ankylosing spondylitis in Iranian population One hundred and nineteen AS patients [82 HLA-B27 positive and 37 HLA-B27 negative] were selected for this study. HLA-B27 positive patients were by polymerase chain reaction amplification with sequence-specific primers [PCR-SSP] for B 27 subtyping. The results of present study revealed that only two subtypes were detected in Iranian patients, including B 2705 [52 patients, 63.4%] and B 2702 [30 patients, 36.6%]. Our results showed a restricted number of HLA-B27 subtypes associated with AS in Iran and an elevated frequency of the B 2705 allele in these patients similar to other Euro-Caucasoid [Aryan] groups in the world