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Abstract Vitiligo is a long term skin condition characterized by patches of the skin losing their pigment. The patches of skin affected become white and usually have sharp margins. The hair from the skin may also become white. Inside the mouth and nose may also be involved. Typically both sides of the body are affected. Often the patches begin on areas of skin that are exposed to the sun. It is more noticeable in people with dark skin. Vitiligo may result in psychological stress and those affected may be stigmatized. The cause is typically unknown. It is believed to be due to genetic susceptibility that is triggered by an environmental factor such that an autoimmune disease occurs. This results in the destruction of skin pigment cells. Risk factors include a family history of the condition or other autoimmune diseases, such as hyperthyroidism, alopecia areata, and pernicious anemia. The aim of the work is to detect the association between Neuropeptide Y gene (NPY) polymorphism and vitiligo, to explore if this polymorphism increases disease risk or influences disease occurrence. This case control study was conducted on 60 subjects. They were categorized into the following groups, group 1 (patients group): This group included 40 patients. group 2 (Control group): Included 20 age and gender matched apparently healthy subjects. There were 16 males and 24 females. They were 19 cases were children and 21 cases were adult. 22 cases presented with lesions on extremities, 5 cases had lesions on head and neck and 13 cases presented with lesions on the trunk. The onset of the disease was gradual in 22 cases and acute in18 cases, the course of the disease was progressive in 17 cases, regressive in 2 cases and 21 stationary in cases. The family history was positive in 3 cases and negative in 37 cases, and the disease was stable in 21 cases and active in 19 cases. There were 20 cases with segmental vitiligo and 20 cases with non-segmental vitiligo and there was no spontaneous repegmentation in any of cases. Any dermatological disease other than vitiligo and other systemic autoimmune or inflammatory disorder were excluded from this study. All patients were subjected to Full history taking (personal history, present history of disease, family history of vitiligo), Examination (Complete general examination, Dermatological examination for assessment of type of vitiligo, spontaneous repigmentation, leukotrakia, and activity of disease). Assessment of disease activity and severity were done by Vitiligo area severity index (VASI) score, Vitiligo disease activity score (VIDA) score. Every case and control subject underwent Laboratory investigations for detection of NPY gene polymorphism by PCR-RFLP. In the current study, C/C genotype, T/C genotype and C allele were significantly associated with cases. They increase disease risk by 3.75,7, and 4.6 folds respectively. It was explained by, NPY promoter region -399T/C polymorphism (T/C) is associated with the initiation of transcription and can change NPY transcription activity. When the -399 locus contains the C nucleotide, plasma NPY levels are higher. Leading to increased catecholamine production altering melanocyte microenvironment and initiate vitiligo .So, NPY (T/C) polymorphism can be considered as a risk factor of vitiligo in Egyptian population. |