All polymorphisms studied in this paper [PMID: 15814578] , total : 8 polymorphisms

Title : Genetic and genomic studies of PADI4 in rheumatoid arthritis.

Abstract : OBJECTIVES: Strong genetic association of rheumatoid arthritis (RA) with PADI4 (peptidyl arginine deiminase) has previously been described in Japanese, although this was not confirmed in a subsequent study in the UK. We therefore undertook a further study of genetic association between PADI4 and RA in UK Caucasians and also studied expression of PADI4 in the peripheral blood of patients with RA. METHODS: Seven single-nucleotide polymorphisms (SNP) were genotyped using polymerase chain reaction (PCR)-restriction fragment length polymorphism in 111 RA cases and controls. A marker significantly associated with RA (PADI4_100, rs#2240339) in this first data set (P = 0.03) was then tested for association in a larger group of 439 RA patients and 428 controls. PADI4 transcription was also assessed by real-time quantitative PCR using RNA extracted from peripheral blood mononuclear cells from 13 RA patients and 11 healthy controls. RESULTS: A single SNP was weakly associated with RA (P = 0.03) in the initial case-control study, a single SNP (PADI4_100) and a two marker haplotype of that SNP and the neighbouring SNP (PADI4_104) were significantly associated with RA (P = 0.02 and P = 0.03 respectively). PADI4_100 was not associated with RA in a second sample set. PADI4 expression was four times greater in cases than controls (P = 0.004), but expression levels did not correlate with the levels of markers of inflammation. CONCLUSION: PADI4 is significantly overexpressed in the blood of RA patients but genetic variation within PADI4 is not a major risk factor for RA in Caucasians.

Author : Harney SM,Meisel C,Sims AM,Woon PY,Wordsworth BP,Brown MA,

Source : Rheumatology (Oxford). 2005 Jul;44(7):869-72. Epub 2005 Apr 6.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs874881	PADI4	23569
2	rs2240340	PADI4	23569
3	NA	PADI4	23569
4	NA	PADI4	23569
5	NA	PADI4	23569
6	NA	PADI4	23569
7	rs1748033	PADI4	23569
8	NA	PADI4	23569