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Journal ID : TMJ-14-12-2021-10887
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Title : PTPN22 Gene Polymorphism in Egyptian Patients with Vitiligo

Abstract :

The Vitiligo is an autoimmune polygenic disorder, characterized by loss of pigmentation due to melanocyte destruction. Multiple genes and environmental triggers are thought to play a role in inducing vitiligo. Etiological hypothesis suggested for etiopathogenesis of vitiligo include gender, immunological, neuro-hormonal and other environmental factors. Genes possibly play a role in all aspects of pathogenesis of vitiligo. Most genes associated with vitiligo are involved in immune regulation and immune targeting of melanocytes. These genes and environmental factors differ across different population. Vitiligo is the most common depigmenting disorder, with a prevalence of approximately 0.5-2% in the world population. Single- nucleotide polymorphisms (SNP) in protein tyrosine phosphatase non-receptor 22 gene (PTPN22) have been linked with the development of several autoimmune disorders. PTPN22 gene is located on chromosome 1p13 and encodes a lymphoid protein tyrosine phosphatase which is important in a negative control of T-cell activation and also in T-cell development. The degree of the association between 1858C/T (SNP) and different autoimmune disorders is not the same among different ethnic population. The purpose of the present work was to investigate the association between an inherited genetic polymorphism at 1858C/T in the PTPN22 and vitiligo in Egyptian patients. The present study included 50 vitiligo patients and 49 apparently healthy age and sex matched subjects as control group. Patients were recruited from the outpatient clinic of Dermatology and Andrology Department Benha university hospitals. All studied individuals were subjected to complete history taking and complete clinical examination. Patients were classified into three types (vitiligo vulgaris, acrofacial and generalized) and disease extent was assessed by body surface area (BSA) score. This study included 2 groups patients group included 50 patients with vitiligo, 14 males (28%) and 36 females (70%), and control group included 49 healthy, age and sex matched individuals. This sample of individuals was selected randomly from population in Qalyubia Governate. Results of the present study showed a statistically insignificant difference between vitiligo patients and control groups regarding the frequency of PTPN22 (C1858 T) genotypes and alleles.

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