Association of Neuropeptide Y (NPY), Interleukin-1B (IL1B) Genetic Variants and Correlation of IL1B Transcript Levels with Vitiligo Susceptibility

摘要: Background Vitiligo is a depigmenting disorder resulting from loss of functional melanocytes in the skin. NPY plays an important role induction immune response by acting on variety cells. synthesis and release governed IL1B. Moreover, genetic variability IL1B reported to be associated with elevated levels. Objectives Aim present study was explore promoter −399T/C (rs16147) exon2 +1128T/C (rs16139) polymorphisms as well −511C/T (rs16944) polymorphism correlate transcript levels vitiligo. Methods PCR-RFLP method used genotype -399T/C SNP 454 patients 1226 controls; 575 1279 controls 448 785 Gujarat. blood were also assessed 105 95 using real-time PCR. Results Genotype allele frequencies for −399T/C, SNPs differed significantly (p<0.0001, p<0.0001; p = 0.0161, 0.0035 p<0.0001, p<0.0001) between controls. ‘TC’ haplotype containing minor alleles higher increased risk vitiligo 2.3 fold (p<0.0001). Transcript higher, compared (p 0.0029), active than stable 0.015), female male 0.026). Genotype-phenotype correlation showed moderate association -511C/T levels. Trend analysis revealed significant difference respect different genotypes. Conclusion Our results suggest that are influences its leading Gujarat population. Up-regulation advocates possible autoimmune pathogenesis vitiligo.