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Abstract association between genetic variants of single nucleotide polymorphisms of the Discoidin Domain Receptor Tyrosine Kinase 1 (DDR1) a/c (rs 2267641) and Granzyme B (GZMB) C/T (RS8192917) genes in vitiligo


Amany A. Saleh
Wafaa A. Shehata
Mohammed G. Elhelbawy
Nesreen G. Elhelbawy

Abstract

Vitiligo manifests as advanced loss of melanocytes with reduced cellular adhesion. Discoidin Domain Receptor Tyrosine kinase1 (DDR1) is a main element affecting cellular adhesiveness associated with vitiligo. Granzyme B (GZMB) has significant role in cytotoxic T-cell induced apoptosis. This study aimed to evaluate the association between genetic variants of single nucleotide polymorphisms of DDR1 A/C (rs 2267641) and GZMB C/T (rs8192917) and the risk of developing vitiligo. The genotypes were investigated using allele discrimination assay comparing 120 patients having non-segmental vitiligo and 100 age and gender matched healthy individuals. We detected a significant prevalence of the CC genotype and C allele of both DDR1 and GZMB polymorphisms in vitiligo patients with early onset and progressive course compared to controls. Our results concluded that DDR1 A/C (rs 2267641) and GZMB C/T (rs8192917) polymorphisms may be risk factors for vitiligo.

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eISSN: 1687-1502