Rs2240340

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is asnp
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dbSNPrs2240340
hapmaprs2240340
hgdprs2240340
ensemblrs2240340
gopubmedrs2240340
scholarrs2240340
googlers2240340
pharmgkbrs2240340
hgvbaseg2prs2240340
medrefsnprs2240340
23andMers2240340
SNP Nexus

GenePADI4
Chromosome1
Orientationminus
Position17535225
GenotypeEffect
rs2240340(A;A)increased risk for RA
rs2240340(A;G)increased risk for RA
rs2240340(G;G)average


Genotypes Magnitude Summary
Rs2240340(A;A) increased risk for RA
Rs2240340(A;G) increased risk for RA
Rs2240340(G;G) average

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 – 2.69), based on 830 cases and 736 controls .

? (A;A) (A;G) (G;G)
Neighborrs1748035
Distance643
Neighborrs1748033
Distance23


[PMID 19470526] PADI4 genotype is not associated with rheumatoid arthritis in a large UK Caucasian Population