Article type: Research Article
Authors: Gandhi, G. | Buttar, B. Singh | Albert, L. | Hasan, Q. | Aggarwal, R.K.
Affiliations: Department of Human Genetics, Guru Nanak Dev
University, Amritsar, India | Centre for Cellular and Molecular Biology (CSIR),
Hyderabad, India | Department of Genetics and Molecular Medicine,
Kamineni Hospitals, Hyderabad, India
Note: [] Corresponding author: Ramesh K Aggarwal, Ph.D., FNAAS, FAPSc,
Chief Scientist, Group Leader, W 409-Molecular Genetics Lab. Centre for
Cellular and Molecular Biology (CSIR-CCMB), Uppal Road, Hyderabad 500 007,
India. Tel.: +91 40 27192635 (direct); 27160222 40 (EPBX); E-mail: [email protected]
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, and rs12208888, 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.
Keywords: Psoriasis, SNP Polymorphism, North-Indian, CCHCR1 gene, HLA-C gene
DOI: 10.3233/DMA-2011-0851
Journal: Disease Markers, vol. 31, no. 6, pp. 361-370, 2011
Received 15 December 2011
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Accepted 15 December 2011
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Published: 2011
