Novel functional polymorphism on PADI-4 gene and its association with arthritis onset

Mukhtar, Maryam; Sheikh, Nadeem; Batool, Andleeb; Khawar, Muhammad Babar; Fatima, Naz; Mehmood, Rabia

doi:10.1016/j.sjbs.2021.09.037

Cited by 9 publications

(5 citation statements)

References 27 publications

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“…The PADI family also plays an important role in other types of arthritis. PADI4 polymorphisms confer susceptibility to OA and juvenile idiopathic arthritis (JIA) ( 40 , 102 , 103 ). Additionally, PADI4 can promote the progression of glucose 6-phosphate isomerase-induced arthritis (GIA) by mediating NETosis, increasing the number of CD4+ T and Th17 cells, and upregulating the level of IL-6 ( 104 ).…”

Section: The Padi Family and Inflammatory Autoimmune Diseasesmentioning

confidence: 99%

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

2023

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The peptidyl arginine deiminase (PADI) family is a calcium ion-dependent group of isozymes with sequence similarity that catalyze the citrullination of proteins. Histones can serve as the target substrate of PADI family isozymes, and therefore, the PADI family is involved in NETosis and the secretion of inflammatory cytokines. Thus, the PADI family is associated with the development of inflammatory autoimmune diseases and cancer, reproductive development, and other related diseases. In this review, we systematically discuss the role of the PADI family in the pathogenesis of various diseases based on studies from the past decade to provide a reference for future research.

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Section: The Padi Family and Inflammatory Autoimmune Diseasesmentioning

confidence: 99%

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

2023

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“…In the protein-coding region, a few functional SNP sites can induce abnormal protein translation by directly changing the amino acid sequence. 22,23 In addition, it can also cause exon skipping and intron retention by disturbing exon splicing. [24][25][26][27] In the non-coding regions, some SNP sites located in the promoter region affect the activity of the promoter by altering the affinity of transcription factors, thereby resulting in the increased expression or decreased expression of genes.…”

Section: The Roles Of Snps Inside the Regulatory Elementsmentioning

confidence: 99%

“…In the protein‐coding region, a few functional SNP sites can induce abnormal protein translation by directly changing the amino acid sequence 22,23 . In addition, it can also cause exon skipping and intron retention by disturbing exon splicing 24–27 .…”

Section: The Roles Of Snps Inside the Regulatory Elementsmentioning

confidence: 99%

Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases

Ren

Dai

et al. 2022

Clinical Genetics

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“…Rheumatoid arthritis (RA) and osteoarthritis (OA) both are bone disorders characterized by the mutual interactions of environment and genetics. However, RA is an autoimmune disorder whereas OA is non-autoimmune but in both diseases bones and joints get affected and degraded one way or another [ 1 ]. Innate and adaptive immunities enable the immune system to fight against multiple disorders.…”

Section: Introductionmentioning

confidence: 99%

“…It increased the transcriptional activity from ERE-reporter transfected into osteoblast cell-line [ 26 ]. We have recently found that PADI-4 gene polymorphism was not only involved in the onset of RA but was also found to be a significant risk factor in OA onset [ 1 ]. Both RA and OA are genetic disorders attributed to the environment and daily lifestyle, but the etiology of both diseases is still a mystery concerning the Pakistani population; therefore, the current study was designed to determine the polymorphism of TLR-8 , TNF , and ESR-1α gene and its association with the onset of both RA and OA.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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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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Novel functional polymorphism on PADI-4 gene and its association with arthritis onset

Cited by 9 publications

References 27 publications

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases

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

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