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

Author:

Mukhtar Maryam12,Sheikh Nadeem1ORCID,Batool Andleeb3,Saleem Tayyaba1ORCID,Khawar Muhammad Babar4ORCID,Irfan Mavra1ORCID,Suqaina Saira Kainat1ORCID

Affiliation:

1. Cell and Molecular Biology Lab, Institute of Zoology, University of the Punjab, Lahore, Pakistan

2. Rhumatology Domain, Center of Molecular Medicine, Karolinska Institute, Department of Medicine, Stockholm, Sweden

3. Department of Zoology, Government College University, Lahore, Pakistan

4. Applied Molecular Biology and Biomedicine Lab, Department of Zoology, University of Narowal, Narowal, Pakistan

Abstract

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.

Publisher

Hindawi Limited

Subject

Genetics,General Medicine

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