Abstract
Psoriasis is a common, chronic, recurrent, inflammatory, hyper proliferative disorder of the skin, which has a relatively high prevalence in the general population (0.6–4.8%). Linkage and association analyses in various populations have revealed a major locus for psoriasis susceptibility, PSORS1, at 6p21.3. Association of the disease with human leukocyte antigen (HLA) Cw6, corneodesmosin (CDSN) and the coiled-coil alpha-helical rod protein-1 (CCHCR1) has also been reported. Though the PSORS1 locus accounts for 30–50% of familial psoriasis in various global population groups, yet no studies have been published from the North Indian population. Some of the SNPs in HLA-C and CCHCR1 genes have been reported as markers for disease susceptibility. Therefore in the present study, DNA samples from psoriasis patients from North India were genotyped for polymorphisms in CCHCR1 and HLA-C genes. The allele frequencies were calculated for patients and controls, and were compared for odds ratio and confidence interval values. SNPn.7*22222 (rs12208888), SNPn.7*22333 (rs12216025), SNPn.9*24118 (rs10456057), CCHCR1_386 (rs130065), CCHCR1_404 (rs130076) and CCHCR1_1364 (rs130071) were found to be significant in psoriasis patients. Linkage disequilibrium analysis revealed two haplotypes (rs12208888,rs2844608,rs12216025,rs10456057,rs130065,rs130066,rs130068,rs130269,andrs12208888,rs2844608,rs12216025,rs130076,rs130066,rs130068,rs130269,rs130071) as highly susceptible haplotypes for psoriasis in the cohort studied. Preliminary analysis of the data also suggests the possibilities of ethnic group specific disease related polymorphisms, pending validation in future studies.
Highlights
Psoriasis (MIM *177900) is one of the most prevalent immune-mediated skin diseases in adults occurring at a frequency of 1–2% among Caucasians and with a lower frequency (0.1%) in Asians [6,7]
human leukocyte antigen (HLA)-Cw*0602 was recognized as significantly associated with Psoriasis and as the marker that confers the highest risk for the disease [3,26]
Psoriasis patients were investigated for four susceptible markers in the PSORS1 region i.e., HLA-C region (SNPs n.7 and n.9) and coiled-coil alpha-helical rod protein-1 (CCHCR1) gene
Summary
Psoriasis (MIM *177900) is one of the most prevalent immune-mediated skin diseases in adults occurring at a frequency of 1–2% among Caucasians and with a lower frequency (0.1%) in Asians [6,7]. In India, the prevalence of psoriasis has recently been inferred as varying from 0.44 to 2.80% [14]. The disease is due to the keratinocyte hyper proliferation, and is characterized by red scaly lesions either localized or widespread in extent on the extensor surfaces. The patients have the typical silvery white scales, which vary in numbers. Genetic-environmental interactions have been proposed as a cause of psoriasis. Twin and family studies suggest a heritability of 60–90%. It is a genetically heterogeneous condition [8,15,17,20]. Genomewide scans have indicated that 10–20 chromosomal regions harbour psoriasis susceptibility genes; further-
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