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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Main Authors: Maryam Mukhtar, Nadeem Sheikh, Andleeb Batool, Tayyaba Saleem, Muhammad Babar Khawar, Mavra Irfan, Saira Kainat Suqaina
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Genetics Research
Online Access:http://dx.doi.org/10.1155/2022/9208765
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author Maryam Mukhtar
Nadeem Sheikh
Andleeb Batool
Tayyaba Saleem
Muhammad Babar Khawar
Mavra Irfan
Saira Kainat Suqaina
author_facet Maryam Mukhtar
Nadeem Sheikh
Andleeb Batool
Tayyaba Saleem
Muhammad Babar Khawar
Mavra Irfan
Saira Kainat Suqaina
author_sort Maryam Mukhtar
collection DOAJ
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 doaj-art-495a588ff48f44dab34468917ea848222025-02-03T06:08:46ZengWileyGenetics Research1469-50732022-01-01202210.1155/2022/9208765TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of ArthritisMaryam Mukhtar0Nadeem Sheikh1Andleeb Batool2Tayyaba Saleem3Muhammad Babar Khawar4Mavra Irfan5Saira Kainat Suqaina6Cell and Molecular Biology LabCell and Molecular Biology LabDepartment of ZoologyCell and Molecular Biology LabApplied Molecular Biology and Biomedicine LabCell and Molecular Biology LabCell and Molecular Biology LabArthritis 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.http://dx.doi.org/10.1155/2022/9208765
spellingShingle Maryam Mukhtar
Nadeem Sheikh
Andleeb Batool
Tayyaba Saleem
Muhammad Babar Khawar
Mavra Irfan
Saira Kainat Suqaina
TLR-8, TNF-α, and ESR-1α Gene Polymorphism Susceptibility in Onset of Arthritis
Genetics Research
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
url http://dx.doi.org/10.1155/2022/9208765
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