Balkan Journal of Medical Genetics

INTERLEUKIN-1β AND TUMOR NECROSIS FACTOR-α GENE POLYMORPHISMS IN SYSTEMIC SCLEROSIS
Hakami M.A1, Alotaibi B.S1, Alkhalil S.S1, Das S2, Nasreen N3, Jeraiby M.A4, Jawed A5, Lohani M5, Dar S.A5*
*Corresponding Author: *Corresponding Author: Sajad Ahmad Dar, Department of Nursing, College of Nursing and Health Sciences, Jazan University, Jazan – 45142, Saudi Arabia; Email: sdar@jazanu.edu.sa
page: 59

INTRODUCTION

Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels, and connective tissue. It is a disease of unknown origin, with the highest incidence occurring between 45 to 55 years of age [1]; the frequency is three to eight times higher in females [2]. Several stud- ies have demonstrated that the extent of skin involvement directly correlates with internal organ involvement and prognosis in SSc patients [3, 4]. Manifestations associated with SSc have been found to negatively impact the quality of life in affected individuals [5]. Long-term occupational exposure to environmental toxins is a common finding in SSc patients [6]. However, the effect of these environmental toxins on immune sys- tem of these genetically susceptible patients is unclear. Recent studies have raised the possibility that both genetic and environmental factors act synergistically at several stages of autoimmunity pathogenesis. These studies predict that individuals susceptible to spontaneous autoimmunity should be more susceptible following xenobiotic exposure by virtue of the presence of predisposing background genes [7]. Studies have shown that genetic predisposition plays an important role in susceptibility and the development of autoimmune diseases. This is likely due to functional polymorphisms within multiple genes, each of which, by modulating corresponding protein expression, influences disease susceptibility. Cytokines may promote the deposition of collagen and fibrosis [8] and many studies have focused on the role of these mediators in SSc, enlisting alterations in their con- centrations [9, 10] or in the balance between Th1 and Th2 cytokine levels [11]. Because cytokine production is regu- lated at the genetic level [12, 13], it has been hypothesized that single-nucleotide polymorphisms (SNPs) in or near cytokine genes may be relevant to the development of SSc. Numerous studies examining patients with SSc from diverse ancestral backgrounds have identified SNPs in various cytokine genes. Among these, the IL-1 cytokine family has emerged as particularly significant in the pathogenesis of SSc. There is compelling evidence link- ing polymorphisms within the IL-1 family to the disease, as summarized by Xu et al. [14]. Specific gene variants in IL-1α [15], IL-1β and IL-2 [16,17], as well as IL-10 [18,19], have been observed across different populations. However, some associations reported in individual studies [19] have not been consistently replicated in others [17], highlight- ing the complexity and variability of these genetic links. These and several other contradictions motivated us to investigate the commonly studied cytokine gene SNPs among our SSc patients, and compare our findings with those previously reported. In this study we evaluated the presence of 22 SNPs in 13 cytokine genes in SSc patients and attempted to associate the significant SNPs with SSc disease susceptibility in our population.

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