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TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis

Arthritis is a genetic disorder characterized by bones and joint degradation assisted by severe pain and inflammation. It is evident by the studies that 0 candidate genes variations play vital role in its development and progression. Therefore, we investigated the genetic variation of TLR-8, TNF, an...

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Autores principales: Mukhtar, Maryam, Sheikh, Nadeem, Batool, Andleeb, Saleem, Tayyaba, Khawar, Muhammad Babar, Irfan, Mavra, Suqaina, Saira Kainat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553836/
https://www.ncbi.nlm.nih.gov/pubmed/36262248
http://dx.doi.org/10.1155/2022/9208765
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author Mukhtar, Maryam
Sheikh, Nadeem
Batool, Andleeb
Saleem, Tayyaba
Khawar, Muhammad Babar
Irfan, Mavra
Suqaina, Saira Kainat
author_facet Mukhtar, Maryam
Sheikh, Nadeem
Batool, Andleeb
Saleem, Tayyaba
Khawar, Muhammad Babar
Irfan, Mavra
Suqaina, Saira Kainat
author_sort Mukhtar, Maryam
collection PubMed
description Arthritis is a genetic disorder characterized by bones and joint degradation assisted by severe pain and inflammation. It is evident by the studies that 0 candidate genes variations play vital role in its development and progression. Therefore, we investigated the genetic variation of TLR-8, TNF, and ESR-1α genes in the Pakistani population. A case-control study comprising 300 RA, 316 OA, and 412 control subjects was conducted. PCR-RFLP and direct sequencing methods were used for determining genetic variations. Analysis was performed by using PLINK and MEGA 6.0 software. Allelic and genetic frequencies of polymorphisms identified on rs3764879 (TLR-8), rs3764880 (TLR-8), rs5744080 (TLR-8), rs1800629 (TNF), rs2228480 (ESR-1α), and rs1451501590 (ESR-1α) were significantly varied among RA, OA, and controls. Novel functional mutations SCV000844945 and SCV000844946 on TLR-8 as well as a non-functional SCV000804801 and functional variation SCV000804802 on ESR-1α were also identified and reported for the first time in the studied population. Multiple site analyses indicated that polymorphisms on TLR-8 and ESR-1α genes were significant risk factors in disease onset to the next generation. In conclusion, TLR-08 and ESR-1α were significant in the onset of arthritis whereas the TNF was not found as a significant risk factor in the onset of RA and OA.
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spelling pubmed-95538362022-10-18 TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis Mukhtar, Maryam Sheikh, Nadeem Batool, Andleeb Saleem, Tayyaba Khawar, Muhammad Babar Irfan, Mavra Suqaina, Saira Kainat Genet Res (Camb) Research Article Arthritis is a genetic disorder characterized by bones and joint degradation assisted by severe pain and inflammation. It is evident by the studies that 0 candidate genes variations play vital role in its development and progression. Therefore, we investigated the genetic variation of TLR-8, TNF, and ESR-1α genes in the Pakistani population. A case-control study comprising 300 RA, 316 OA, and 412 control subjects was conducted. PCR-RFLP and direct sequencing methods were used for determining genetic variations. Analysis was performed by using PLINK and MEGA 6.0 software. Allelic and genetic frequencies of polymorphisms identified on rs3764879 (TLR-8), rs3764880 (TLR-8), rs5744080 (TLR-8), rs1800629 (TNF), rs2228480 (ESR-1α), and rs1451501590 (ESR-1α) were significantly varied among RA, OA, and controls. Novel functional mutations SCV000844945 and SCV000844946 on TLR-8 as well as a non-functional SCV000804801 and functional variation SCV000804802 on ESR-1α were also identified and reported for the first time in the studied population. Multiple site analyses indicated that polymorphisms on TLR-8 and ESR-1α genes were significant risk factors in disease onset to the next generation. In conclusion, TLR-08 and ESR-1α were significant in the onset of arthritis whereas the TNF was not found as a significant risk factor in the onset of RA and OA. Hindawi 2022-09-20 /pmc/articles/PMC9553836/ /pubmed/36262248 http://dx.doi.org/10.1155/2022/9208765 Text en Copyright © 2022 Maryam Mukhtar et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Mukhtar, Maryam
Sheikh, Nadeem
Batool, Andleeb
Saleem, Tayyaba
Khawar, Muhammad Babar
Irfan, Mavra
Suqaina, Saira Kainat
TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis
title TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis
title_full TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis
title_fullStr TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis
title_full_unstemmed TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis
title_short TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis
title_sort tlr-8, tnf-α, and esr-1α gene polymorphism susceptibility in onset of arthritis
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553836/
https://www.ncbi.nlm.nih.gov/pubmed/36262248
http://dx.doi.org/10.1155/2022/9208765
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