Association of Anti–Cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis

Cha, Seongwon; Choi, Chan-Bum; Han, Tae Un; Kang, Changsoo; Kang, Changwon; Bae, Sang Cheol

doi:10.1002/art.22570

Cited by 47 publications

(41 citation statements)

References 37 publications

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“…For example, PTPN22 [6] was reported to have To achieve the optimal correction for multiple testing of single nucleotide polymorphisms (SNPs) in linkage disequilibrium (LD) with each other, the effective number of independent markers in PARP was calculated using the software SNPSpD (http://gump.qimr.edu. au/general/daleN/SNPSpD/) a relationship with RA susceptibility in Caucasians; in contrast, PADI4 has been reported to show relation to RA susceptibility in Asians [4,5]. Another reason for the lack of association between PARP-1 polymorphisms and RA in our study could be the effects of as yet undiscovered functional genetic variants that could potentially interact with PARP-1.…”

Section: Discussioncontrasting

confidence: 78%

“…The human leukocyte antigen (HLA) complex gene on chromosome 6 has been shown to be a major contributor to RA pathogenesis [1], and several contributing non-HLA genes have also been reported [2]. Non-HLA genes known to be associated with RA susceptibility include but are not limited to PADI4 [3][4][5], PTPN22 [6], TRAF1-C5 [7,8], STAT4 [9,10], and 6q23/TNFAIP3 [11].…”

Section: Introductionmentioning

confidence: 97%

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Lack of association between Poly(ADP-ribose) polymerase (PARP) polymorphisms and rheumatoid arthritis in a Korean population

et al. 2010

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Several studies have investigated the roles of genetic polymorphisms in rheumatoid arthritis (RA). Some of these studies reported that polymorphisms of poly(ADPribose) polymerase 1 gene (PARP-1) are linked to rheumatoid arthritis. Poly(ADP-ribose) polymerase is an enzyme involved in DNA repair, genomic stability, apoptosis, gene transcription, proliferation, and autoimmunity. To determine whether genetic polymorphisms of PARP-1 are related to rheumatoid arthritis in a Korean population, six single nucleotide polymorphisms (SNPs), which were selected based on LDs and minor allele frequency (MAF [ 0.05) in our previous study, were genotyped in 1,202 patients with rheumatoid arthritis and 979 unrelated healthy controls. As a result, no significant association between the susceptibility to rheumatoid arthritis and PAPR-1 polymorphisms was found. However, in further analysis depending on the radiological severity of rheumatoid arthritis, one PARP-1 polymorphism, rs1805413 (OR = 0.11; 95% CI = 0.02-0.55; P = 0.007; P corr = 0.04), and one haplotype (ht6, OR = 0.11; 95% CI = 0.02-0.55; P = 0.007; P corr = 0.04) were significantly associated with the radiological severity risk of RA in a recessive model. In addition, a recessive model revealed a correlation between one RA haplotype (ht4) and anti-CCP antibody negativity (OR 0.24, 95% CI 0.10-0.63, P = 0.003; P corr = 0.02). Despite a possible association between PARP-1 and the radiological severity of RA, this study found no statistical association between PARP-1 polymorphisms and the susceptibility to rheumatoid arthritis in a Korean population.

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Section: Discussioncontrasting

confidence: 78%

Section: Introductionmentioning

confidence: 97%

Lack of association between Poly(ADP-ribose) polymerase (PARP) polymorphisms and rheumatoid arthritis in a Korean population

et al. 2010

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“…PADI4 is a compelling candidate gene, because it encodes one of the enzymes responsible for citrullination of endogenous proteins, and an antibody response to citrullinated peptides is highly specific for RA (21). Numerous studies in Asian populations have demonstrated the association of PADI4 with RA (10,(22)(23)(24)(25), but these associations are either absent or very weak in populations of European ancestry (13,14). It is possible that this difference reflects an interaction of PADI4 genetic susceptibility with environmental factors, because citrullination may also be related to smoking or other environmental exposures (1,2,26).…”

Section: Discussionmentioning

confidence: 99%

Association of STAT4 with Rheumatoid Arthritis in the Korean Population

Lee

Remmers

et al. 2007

Mol Med

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A recent study in the North American White population has documented the association of a common STAT4 haplotype (tagged by rs7574865) with risk for rheumatoid arthritis (RA) and systemic lupus erythematosus. To replicate this finding in the Korean population, we performed a case-control association study. We genotyped 67 single nucleotide polymorphisms (SNPs) within the STAT1 and STAT4 regions in 1123 Korean patients with RA and 1008 ethnicity-matched controls. The most significant four risk SNPs (rs11889341, rs7574865, rs8179673, and rs10181656 located within the third intron of STAT4) among 67 SNPs are identical with those in the North American study. All four SNPs have modest risk for RA susceptibility (odds ratio 1.21-1.27). A common haplotype defined by these markers (TTCG) carries significant risk for RA in Koreans [34 percent versus 28 percent, P = 0.0027, OR (95 percent CI) = 1.33 (1.10-1.60)]. By logistic regression analysis, this haplotype is an independent risk factor in addition to the classical shared epitope alleles at the HLA-DRB1 locus. There were no significant associations with age of disease onset, radiographic progression, or serologic status using either allelic or haplotypic analysis. Unlike several other risk genes for RA such as PTPN22, PADI4, and FCRL3, a haplotype of the STAT4 gene shows consistent association with RA susceptibility across Whites and Asians, suggesting that this risk haplotype predates the divergence of the major racial groups.

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“…Lack of statistical power because of the small sample size is likely the cause of these negative findings; associations between these genes and anti-CCP have in fact been found in larger cohorts 10,11 .…”

Section: Journal Of Rheumatologymentioning

confidence: 99%

Effect of Rheumatoid Arthritis (RA) Susceptibility Genes on the Immune Response to Viral Citrullinated Peptides in RA

Pratesi¹,

Petit-Teixeira²,

Sidney³

et al. 2012

J Rheumatol

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Association of Anti–Cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis

Cited by 47 publications

References 37 publications

Lack of association between Poly(ADP-ribose) polymerase (PARP) polymorphisms and rheumatoid arthritis in a Korean population

Lack of association between Poly(ADP-ribose) polymerase (PARP) polymorphisms and rheumatoid arthritis in a Korean population

Association of STAT4 with Rheumatoid Arthritis in the Korean Population

Effect of Rheumatoid Arthritis (RA) Susceptibility Genes on the Immune Response to Viral Citrullinated Peptides in RA

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