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rs2240340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) increased risk for RA
(A;G) increased risk for RA
(G;G) average
ReferenceGRCh38 38.1/141
Chromosome1
Position17336144
GenePADI4
is asnp
is mentioned by
dbSNPrs2240340
ebirs2240340
HLIrs2240340
Exacrs2240340
Varsomers2240340
Maprs2240340
PheGenIrs2240340
hapmaprs2240340
1000 genomesrs2240340
hgdprs2240340
ensemblrs2240340
gopubmedrs2240340
geneviewrs2240340
scholarrs2240340
googlers2240340
pharmgkbrs2240340
gwascentralrs2240340
openSNPrs2240340
23andMers2240340
23andMe allrs2240340
SNP Nexus

SNPshotrs2240340
SNPdbers2240340
MSV3drs2240340
GWAS Ctlgrs2240340
GMAF0.4605
Max Magnitude
? (A;A) (A;G) (G;G) 28

Several studies have all found that rs2240340, a SNP in the PADI4 gene, is associated with risk for developing rheumatoid arthritis (RA). The risk allele in dbSNP orientation is (T).

The largest study involved over 2,000 RA patients, and although implicating PTPN22 SNPs with greater risk, PADI4 SNP rs2240340 was also implicated. The odds ratio varied between the two (European) populations a bit, but when combined, was 1.10 (CI: 1.00 - 1.21) for the risk allele. [PMID 16380915OA-icon.png]

Additional studies include:

[PMID 18087673] rs2240340 was modestly associated with rheumatoid arthritisin a study of 950 unrelated Japanese subjects with RA, with an odds ratio of 1.22 (CI: 1.04 - 1.43,p=0.012).

[PMID 12833157] rs2240340 was associated with rheumatoid arthritis with an odds ratio of 1.97 (CI: 1.44 – 2.69), based on 830 cases and 736 controls .

Neighborrs1748035
Distance643
Neighborrs1748033
Distance23
[PMID 19470526OA-icon.png] PADI4 genotype is not associated with rheumatoid arthritis in a large UK Caucasian Population


[PMID 20563870] The PADI4 gene does not contribute to genetic susceptibility to rheumatoid arthritis in Chinese Han population


[PMID 16519819OA-icon.png] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.


[PMID 18462498OA-icon.png] Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking.


[PMID 18466472OA-icon.png] Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm.


[PMID 18466513OA-icon.png] Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15.


[PMID 18466554OA-icon.png] Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests.


[PMID 18794853OA-icon.png] Common variants at CD40 and other loci confer risk of rheumatoid arthritis.


[PMID 19180477OA-icon.png] Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.


[PMID 20444268OA-icon.png] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.


[PMID 21039740] PADI4 gene polymorphism is not associated with ankylosing spondylitis in Chinese Han population.


[PMID 22505706] Peptidylarginine deiminase type 4 and methyl-CpG binding domain 4 polymorphisms in Chinese patients with rheumatoid arthritis.


[PMID 23164236OA-icon.png] Polymorphisms in peptidylarginine deiminase (PADI) associate with rheumatoid arthritis in diverse Asian populations: evidence from MyEIRA study and meta-analysis


[PMID 23450494] [Association of polymorphisms of PTPN22 and PADI4 genes with rheumatoid arthritis in Yunnan]


[PMID 24564960] Association between PADI4 gene polymorphisms and anti-cyclic citrullinated peptide antibody positive rheumatoid arthritis in a large Chinese Han cohort