Associations Between PADI4 Gene Polymorphisms and Rheumatoid Arthritis: An Updated Meta-analysis

Yang, Xiao‐Ke; Liu, Juan; Liu, Jie; Liang, Yan; Xu, Wang‐Dong; Leng, Rui‐Xue; Pan, Hai‐Feng; Ye, Dong-Qing

doi:10.1016/j.arcmed.2015.05.011

Cited by 25 publications

(26 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…4b). Multiple studies have reported significant association between haplotypes of the PADI4 gene and rheumatoid arthritis, and PADI4 mRNA is expressed in pathological synovial tissues 32,33 , yet none have implicated this deletion, which flanks an annotated enhancer and is predicted to be the causal variant for increased PADI4 expression in lung. Finally, we recapitulate several SVs previously recognized as clinically associated markers, including an SVA retroelement insertion to a GWAS risk allele for melanoma and esophageal cancer ( r 2 = 0.85) 34–36 , a ~32 kb deletion conferring risk for psoriasis 37 , and a ~37 kb deletion linked to circulating liver enzyme levels (gamma-glutamyl transferase) 38 (Supplementary Fig.…”

Section: Resultsmentioning

confidence: 99%

The impact of structural variation on human gene expression

et al. 2017

View full text Add to dashboard Cite

Structural variants (SVs) are an important source of human genetic diversity but their contribution to traits, disease, and gene regulation remains unclear. We mapped cis expression quantitative trait loci (eQTLs) in 13 tissues via joint analysis of SVs, single nucleotide (SNV), and short insertion/deletion (indel) variants from deep whole genome sequencing (WGS). We estimate that SVs are causal at 3.5–6.8% of eQTLs – a substantially higher fraction than prior estimates – and that expression-altering SVs have larger effect sizes than SNVs and indels. We identified 789 putative causal SVs predicted to directly alter gene expression: most (88.3%) are noncoding variants enriched at enhancers and other regulatory elements, and 52 are linked to genome-wide association study loci. We observe a notable abundance of rare, high impact SVs associated with aberrant expression of nearby genes. These results suggest that comprehensive WGS-based SV analyses will increase the power of common and rare variant association studies.

show abstract

Section: Resultsmentioning

confidence: 99%

The impact of structural variation on human gene expression

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Despite the well-known multifactorial nature of RA, genetic factors are considered to be the strongest determinants of this disease, encouraging researchers to search for the responsible genes (Turesson and Matteson, 2006;Yang et al, 2015). The first positive association between PADI4-104C/T and RA was reported in a Japanese population (Suzuki et al, 2003); several studies have attempted to replicate this association since then.…”

Section: Discussionmentioning

confidence: 99%

“…Several meta-analyses have been previously conducted on RA in the Asian and Caucasian populations, with conflicting results (Lee et al, 2007;Hou et al, 2013;Lee and Bae, 2015;Yang et al, 2015). This meta-analysis was performed to filter out the influence of different genetic backgrounds on the relationship between the PADI4-104C/T polymorphism and risk of RA in a Chinese population.…”

Section: Introductionmentioning

confidence: 99%

Association between peptidyl arginine deiminase 4 (PADI4)-104C/T polymorphism and rheumatoid arthritis: a meta-analysis in the Chinese population

Ll¹,

Chang²,

Ym³

2016

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. The correlation between the -104C/T polymorphism in the peptidyl arginine deiminase 4 (PADI4) gene and rheumatoid arthritis (RA) risk has been analyzed in several studies. However, the results are inconclusive and remain to be confirmed in several ethnic groups. The effect of the PADI4-104C/T polymorphism on RA risk in the Chinese population was evaluated in a meta-analysis. Studies with dates of publication up to July 2015 conforming to the inclusion criteria were retrieved from PubMed and Chinese databases. The associations were assessed with pooled odds ratios (ORs) and 95% confidence intervals (CIs). Ten studies, including 2119 RA cases and 1962 controls, that conformed to the study criteria were included in this analysis. The overall analysis indicated a significant association between the PADI4- 30-2.37). Analysis of data stratified by the geographic area and source of controls revealed that the PADI4-104C/T polymorphism was significantly associated with RA risk in a North Chinese population. In conclusion, the results of this meta-analysis indicated that the PADI4-104C/T variants could influence the risk of RA in the Chinese population; further studies in other ethnic groups are required to draw definite conclusions.

show abstract

“…Up to the present time, there are five published meta-analyses regarding the PADI4 -94G/A polymorphism and RA risk (Iwamoto et al, 2006;Lee et al, 2007;Takata et al, 2008;Hou et al, 2013;Yang et al, 2015). Of these, two meta-analyses reported that there was significant association between the PADI4 -94G/A polymorphism and RA risk both in the Asian and European populations (Iwamoto et al, 2006;Takata et al, 2008), while two meta-analyses reported that there was significant association only in Asian individuals (Hou et al, 2013;Yang et al, 2015). Meta-analysis is a powerful statistical method that could improve the reliability of the conflicting results regarding the same topic and could identify the reason for the variation.…”

Section: Discussionmentioning

confidence: 99%

“…Compared with the previous meta-analyses (Iwamoto et al, 2006;Lee et al, 2007;Takata et al, 2008;Hou et al, 2013;Yang et al, 2015), the current study included more research studies on the Chinese population. The effects of gene-environment interactions with respect to RA risk were also studied by subgroup analyses.…”

Section: Discussionmentioning

confidence: 99%

Association between the PADI4 -94G/A polymorphism and rheumatoid arthritis: a meta-analysis in the Chinese population

Hx¹

2016

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Although a number of studies have been conducted on the association between the peptidylarginine deiminase (PADI4) -94G/A polymorphism and rheumatoid arthritis (RA) in the Chinese population, the association remains elusive and controversial. To clarify the impact of the PADI4 -94G/A polymorphism on the risk of RA, a meta-analysis was performed in the Chinese population. Related studies were identified from databases such as, Springer Link, Ovid, Chinese Wanfang Data Knowledge Service Platform, Chinese National Knowledge Infrastructure (CNKI), and Chinese Biology Medicine (CBM) up to May 21, 2015. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of associations. A total of 10 studies with 2783 RA cases and 2887 controls were included in this meta-analysis. Overall, a significantly elevated risk of RA was associated with all variants of PADI4 -94G/A (A vs G: OR = 1.24, 95%CI = 1.15-1.34; AA + GA vs GG: OR = 1.45, 95%CI = 1.29-1.62; AA vs GG: OR = 1.49, 95%CI = 1.28-1.73; AA vs GG + GA: OR = 1.19, 95%CI = 1.04-1.35). Subgroup analyses stratified by geographic areas and source of controls revealed significant results in the populationbased studies in North and South China. In conclusion, this meta-analysis showed that the PADI4 -94G/A variants may influence RA risk in the Chinese population. However, further studies with gene-gene and geneenvironment interactions are required for definite conclusions.

show abstract

Associations Between PADI4 Gene Polymorphisms and Rheumatoid Arthritis: An Updated Meta-analysis

Cited by 25 publications

References 39 publications

The impact of structural variation on human gene expression

The impact of structural variation on human gene expression

Association between peptidyl arginine deiminase 4 (PADI4)-104C/T polymorphism and rheumatoid arthritis: a meta-analysis in the Chinese population

Association between the PADI4 -94G/A polymorphism and rheumatoid arthritis: a meta-analysis in the Chinese population

Contact Info

Product

Resources

About