Abstract
We investigated the influence of the cytosine-adenine (CA) dinucleotide repeat polymorphism in intron 6 of estrogen receptor β (ERβ) gene on rheumatoid arthritis (RA) risk. One hundred and ninety-three RA patients and 77 control subjects with osteoarthritis (OA) were recruited. The CA repeat polymorphism was assayed by a dye-terminator cycle sequencing analysis. No statistically significant difference in the mean number of CA repeats between the RA and OA patients was observed (RA: 21.47, OA: 21.23, P = 0.324). The alleles were categorized according to the number of repeats: short (S, ≦21) and long (L, ≧22), in which the genotypes SS, SL, and LL were observed. No significant differences were observed for the allele and genotype distributions of this polymorphism in both patient groups. The RA patients were classified according to RA severity: mild (least erosive disease) and severe (more erosive and mutilating disease). Again, no significant difference in genotype frequency between these groups was observed, even after stratifying by sex. The present study indicates that additional studies are needed to clarify the roles of this polymorphism, estrogen, and ER in the development of autoimmune diseases.
Highlights
Rheumatoid arthritis (RA) is the most common chronic autoimmune disorder, characterized by chronic inflammation and destruction of the synovial joints, leading to progressive joint deterioration and disability [1]
We investigated the influence of the cytosine-adenine (CA) dinucleotide repeat polymorphism in intron 6 of estrogen receptor β (ERβ) gene on rheumatoid arthritis (RA) risk
We investigated the association between the CA repeat polymorphism in the intron 6 of the ERβ gene and RA in men and women and compared the results obtained with those found in OA patients
Summary
Autoimmune disorder, characterized by chronic inflammation and destruction of the synovial joints, leading to progressive joint deterioration and disability [1]. Some studies have suggested that female sex hormones and pregnancy are factors possibly associated with RA symptoms. Amelioration of RA occurs in approximately three quarters of pregnancies In these cases, most women who improve experience initial relief in the first trimester, but RA almost invariably recurs within 3 or 4 months after delivery [5]. In RA, we previously reported that longer CA repeats in the intron 6 of ERβ and the GG genotype at SNP rs1256049 were potential risk factors for RA [13, 14]. We investigated the association between the CA repeat polymorphism in the intron 6 of the ERβ gene and RA in men and women and compared the results obtained with those found in OA patients. We investigated the relationship between RA severity and CA repeat polymorphism
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