All polymorphisms studied in this paper [PMID: 24065540] , total : 4 polymorphisms

Title : MMP-2, TNF-alpha and NLRP1 polymorphisms in Chinese patients with ankylosing spondylitis and rheumatoid arthritis.

Abstract : Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are autoimmune, inflammatory diseases with substantial genetic contributions. Matrix metalloproteinase (MMP)-2, tumor necrosis factor (TNF)-alpha and NLR family pyrin domain-containing 1 (NLRP1) play important roles in the immune response. We studied the MMP-2 rs243865 C/T, TNF-alpha rs1800629 A/G, NLRP1 rs878329 C/G and NLRP1 rs6502867 C/T polymorphisms in a Chinese cohort of 520 patients with RA, 100 with AS and 520 controls. Genotyping was performed using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Using the MMP-2 rs243865 CC homozygote genotype as the reference group, the CT and TT/CT genotypes were associated with significantly reduced risks of AS. However, logistic regression analyses revealed that the MMP-2 rs243865 C/T polymorphism was not associated with risk of RA. TNF-alpha rs1800629 A/G, NLRP1 rs878329 C/G and NLRP1 rs6502867 C/T polymorphisms were not associated with risk of RA or AS. These findings suggest that the MMP-2 rs243865 C/T polymorphism is associated with AS development.

Author : Sun R,Huang Y,Zhang H,Liu R,

Source : Mol Biol Rep. 2013 Nov;40(11):6303-8. doi: 10.1007/s11033-013-2743-8. Epub 2013 Sep 25.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs243865	MMP2	4313
2	rs1800629	TNF	7124
3	rs878329	NA	NA
4	rs6502867	NLRP1	22861