Open AccessGasdermin A Single Nucleotide Polymorphisms and Alopecia Susceptibility in Punjabi Population from North-West India
Author(s) -
Shikha Rani,
Praveen P. Balgir
Publication year - 2021
Publication title -
journal of pharmaceutical research international
Language(s) - English
Resource type - Journals
ISSN - 2456-9119
DOI - 10.9734/jpri/2021/v33i47a33048
Subject(s) - haplotype , allele , genetics , single nucleotide polymorphism , biology , gene , population , genotype , allele frequency , medicine , environmental health
Human Gasdermin A (GSDMA), a member of gasdermin gene family, is mainly expressed in skin and stomach. Mutations in its mouse counterpart Gsdma3, were found to cause skin diseases characterized by hair loss/ alopecia. As human and mice genes share 75% sequence similarity, present study was designed to check whether natural variability in human GSDMA gene was associated with alopecia. Blood samples of 100 alopecia patients and 100 age matched controls were collected and genomic DNA Isolated. All the samples were genotyped for two GSDMA SNPs, rs7212938 (V128L) and rs200722398 (V253I) for distribution of alleles along with haplotype analysis. Out of the T and G allele of rs7212938, the G allele count was found to be significantly increased (0.29 to 0.39) among alopecia patients and out of G/A alleles at rs200722398, allele A count was found to be significantly increased (0.06 to 0.13) among alopecia patients. Further haplotype analysis revealed that haplotype combination TGTAGG of rs7212938 and rs200722398 enhanced the susceptibility to alopecia significantly among Punjabi men. Studies on large population sample, other interacting genes and mechanism underlying the observed enhanced susceptibility are required to delineate the role of the observed association between GSDMA alleles and relative risk of alopecia.