Evidence map›Paper›PMID 38409498›Full record

ArticleJournal of human genetics2024

Identifying the genetic associations among the psoriasis patients in eastern India.

Shantanab Das, Aditi Chandra, Anamika Das, Swapan Senapati, Gobinda Chatterjee, Raghunath Chatterjee

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Article in Journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
1.0field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Shantanab DasHuman Genetics Unit, Indian Statistical Institute, 203 B. T. Road, Kolkata, West Bengal, 700108, India.
Aditi ChandraHuman Genetics Unit, Indian Statistical Institute, 203 B. T. Road, Kolkata, West Bengal, 700108, India.ORCID http://orcid.org/0000-0002-2053-163X
Anamika DasHuman Genetics Unit, Indian Statistical Institute, 203 B. T. Road, Kolkata, West Bengal, 700108, India.
Swapan SenapatiConsultant Dermatologist, Uttarpara, Hooghly, West Bengal, 712258, India.
Gobinda ChatterjeeDepartment of Dermatology, IPGMER/SSKM Hospital, Kolkata, West Bengal, India.
Raghunath ChatterjeeHuman Genetics Unit, Indian Statistical Institute, 203 B. T. Road, Kolkata, West Bengal, 700108, India. rchatterjee@isical.ac.in.ORCID http://orcid.org/0000-0002-4602-0838
Indian Statistical Institute · INInstitute of Post Graduate Medical Education and Research · IN

Funding

DST | Science and Engineering Research Board (SERB) CRG/2020/003837
6 · The paper itself

Abstract

Psoriasis is a multifactorial genetic disorder manifested by hyperproliferation and abnormal differentiation of epidermal keratinocytes, along with the infiltration of inflammatory cells into the skin. Although ~80 genetic susceptibility variants were reported in psoriasis, many loci showed population-specific associations, warranting the need for more population-specific association studies in psoriasis. We determined the association of forty single nucleotide polymorphisms (SNPs) among 2136 psoriasis patients and normal individuals from eastern India. We investigated the expression of corresponding genes and evaluated the protein structure stability for the genes with susceptible coding variants. We found fifteen SNPs significantly associated with psoriasis, while additional three SNPs showed significant association when we classified the patients based on the presence of HLA-Cw6 allele. Epistatic interaction between HLA-Cw6 and other associated loci showed significant association with the SNPs at PSORS1 region, along with other five SNPs outside PSORS1. Three genes showed significant differential expression in psoriatic tissues compared to the adjacent normal skin tissues but were not differential when classified the patients based on their genotypes. SNP rs495337 at SPATA2 (Spermatogenesis Associated 2) showed a 1.2-fold increased risk among the HLA-Cw6 patients compared to combined samples. We found significant downregulation of SPATA2 among the patients with risk genotypes and HLA-Cw6 allele compared to the non-risk genotypes. Protein structure stability analysis showed reduced structural stability for all the mutant residues caused by the associated coding variants. Our study evaluated the genetic associations of psoriasis-susceptible variants in India and evaluated the possible functional significance of these associated variants in psoriasis.

Indexed as

Genetic Predisposition to DiseaseHLA-C AntigensPolymorphism, Single NucleotidePsoriasisAdultAllelesCase-Control StudiesFemaleGenetic Association StudiesGenotypeHumansIndiaMaleMiddle AgedHLA-C*06 antigenHLA-C Antigens

Identifiers

PMID38409498
OpenAlexW4392222265

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.