rs2240340

minus

Geno	Mag	Summary
(A;A)	1.5	slightly increased (1.5x) risk for RA
(A;G)	1.5	slightly increased (1.5x) risk for RA
(G;G)	0	average

Reference

GRCh38 38.1/141

Chromosome

1

Position

17336144

Gene

PADI4

is a	snp
is	mentioned by
dbSNP	rs2240340
dbSNP (classic)	rs2240340
ClinGen	rs2240340
ebi	rs2240340
HLI	rs2240340
Exac	rs2240340
Gnomad	rs2240340
Varsome	rs2240340
LitVar	rs2240340
Map	rs2240340
PheGenI	rs2240340
Biobank	rs2240340
1000 genomes	rs2240340
hgdp	rs2240340
ensembl	rs2240340
geneview	rs2240340
scholar	rs2240340
google	rs2240340
pharmgkb	rs2240340
gwascentral	rs2240340
openSNP	rs2240340
23andMe	rs2240340
SNPshot	rs2240340
SNPdbe	rs2240340
MSV3d	rs2240340
GWAS Ctlg	rs2240340

GMAF

0.4605

Max Magnitude

1.5

?

(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 16380915 ]

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 â€“ 2.69), based on 830 cases and 736 controls .

[PMID 19470526 ] 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 16519819 ] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.

[PMID 18462498 ] 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 18466472 ] Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm.

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

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

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

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

[PMID 20444268 ] 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 23164236 ] 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

[PMID 28182665 ] PADI4 and the HLA-DRB1 shared epitope in juvenile idiopathic arthritis.

[PMID 33059697 ] rs2476601 in PTPN22 gene in rheumatoid arthritis and periodontitis-a possible interface?