Association of cytosine-adenine repeat polymorphism of the estrogen receptor-beta gene with rheumatoid arthritis symptoms

Rheumatol Int. 2010 Jul;30(9):1259-62. doi: 10.1007/s00296-010-1423-4. Epub 2010 Mar 28.

Abstract

The influence of the polymorphism of the estrogen receptor-beta gene, cytosine-adenine (CA) dinucleotide repeat in intron 6, in the occurrence of rheumatoid arthritis (RA) was investigated. Forty-seven RA patients and 36 control subjects with osteoarthritis (OA) were recruited. CA repeat polymorphism was examined using denaturing high-performance liquid chromatography (WAVE DNA Fragment Analysis System). The mean number of CA repeats was significantly higher in RA than in OA patients. Two groups were established: <or=21 repeats (short S), >or=22 repeats (long L); and 3 kinds of genotypes (SS, SL, LL) were found. In RA patients, the L allele frequency was higher (OR = 2.03; P <or= 0.05 Fisher's test) and more subjects carried the LL genotype (OR = 5.50; P <or= 0.05 Fisher's test) compared to OA patients. It was concluded that the presence of the L allele could be a risk factor for RA, although additional larger scale study is needed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine
  • Adult
  • Aged
  • Alleles
  • Arthritis, Rheumatoid / genetics*
  • Case-Control Studies
  • Cytosine
  • Dinucleotide Repeats / genetics*
  • Estrogen Receptor beta / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Introns
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Risk Factors

Substances

  • Estrogen Receptor beta
  • Cytosine
  • Adenine