Estrogen receptor gene polymorphisms in Japanese patients with systemic sclerosis.
Clin Exp Rheumatol
; 26(5): 914-7, 2008.
Article
en En
| MEDLINE
| ID: mdl-19032828
ABSTRACT
OBJECTIVE:
To investigate whether single-nucleotide polymorphisms (SNPs) within the estrogen receptor (ER) alpha and Beta genes are associated with disease susceptibility and clinical presentation in Japanese patients with systemic sclerosis (SSc).METHODS:
Three SNPs, ERalpha PvuII T/C, ERalpha XbaI A/G, and ERBeta RsaI G/A, were genotyped using polymerase-chain reaction combined with restriction fragment length polymorphisms in 103 patients with SSc and 56 race-matched healthy controls. The distribution of the individual ER SNPs in SSc patients with or without SSc-related organ involvement and serum antinuclear antibodies was determined.RESULTS:
The frequency of the ERalpha XbaI GG phenotype was significantly lower in SSc patients than in healthy controls (2% vs. 13%, p=0.005, odds ratio=0.14, 95%CI 0.03-0.69), and no significant association was detected for the other SNPs. Except in the case of heart involvement accompanying SSc, there was no significant association of the ER SNPs with SSc-related individual organ involvement or with antinuclear antibody profiles. Specifically, the ERalpha PvuII CC phenotype was significantly more frequent among patients with heart involvement compared with those without it (75% vs. 14%, p=0.0001, odds ratio=17.4, 95%CI 3.2-94.8).CONCLUSION:
SNPs located within the ERalpha gene may contribute to disease susceptibility and to certain clinical manifestations of SSc patients.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Esclerodermia Sistémica
/
Predisposición Genética a la Enfermedad
/
Polimorfismo de Nucleótido Simple
/
Receptor alfa de Estrógeno
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Clin Exp Rheumatol
Año:
2008
Tipo del documento:
Article
País de afiliación:
Japón