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Association of the X-chromosomal genes Timp1 and Il9r with rheumatoid arthritis
Journal of Rheumatology, 09/14/09
Burkhardt J et al. – There is evidence for an association of at least 2 X-chromosomal genes with RA i: TIMP1 (rs6520278) and IL9R (rs3093457).
Methods- 1452 individuals
- 3 different sample sets
- Genotyped for 16 single-nucleotide polymorphisms (SNP) in 7 genes
- Subgroups analyzed according to sex of patient and presence of anti-CCP autoantibodies
- Four SNP were with RA in the first sample set: genotyped in the second set
- Combined analysis of sets 1 and 2; evidence remained for association of 3 SNP in the genes UBA1, TIMP1, and IL9R.
- 2 SNP were associated with RA in the joint analysis of all samples: rs6520278 (TIMP1) was associated with RA in general; rs3093457 (IL9R) with anti-CCP-positive RA patients and male RA patients
- Association of RA with TIMP1
- Sex-specific association of rs3093457
- Men homozygous for rs3093457-CC at significantly higher risk to develop RA than women
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