Περίληψη:
Estrogens and their receptors may play a role in the pathogenesis of
systemic lupus erythematosus. Genetic alterations in the exon 8-coding
region of the estrogen receptor alpha alter the intracellular signalling
of estrogens, leading in enhanced or diminished activity. We
investigated whether genetic alterations in exon 8 of ER alpha gene are
associated with the occurrence and clinical features of lupus disease.
The coding region of ERa exon 8 was subjected to mutation analysis using
the polymerase chain reaction, denaturing gradient gel electrophoresis
and sequence analysis, using DNA isolated from whole blood of 36 female
patients and 38 healthy females. Clinical and laboratory parameters were
available from the patients’ files. We identified the codon 594
polymorphism either in homozygous for the wild type gene (ACG/ACG) or
heterozygous (ACG/ACA), both in patients and healthy females.
Statistical analysis of the genotype and allele distribution revealed
that there was a significant difference (chi(2) test, P = 0.02 and P =
0.04, respectively) between patients and healthy women. Odds ratio
estimate revealed that carriers of ACG/ACA genotype have three-fold
higher risk of developing lupus disease (OR= 3.129, 95% CI 1.181 -
8.292). Moreover, it) patients the heterozygous genotype was associated
with rash, mouth ulcers and serositis (Fisher’s exact test, P = 0.055, P
= 0.083, P = 0.065, respectively). The heterozygous patients were
associated significantly with an early age at disease onset (ANOVA test,
P < 0.05). We conclude that estrogen receptor alpha codon 594 genotype
may influence the development of systemic lupus erythematosus at a
younger age, as well as a certain disease clinical pattern.
Συγγραφείς:
Kassi, E
Vlachoyiannopoulos, PG
Kominakis, A
Kiaris, H and
Moutsopouios, HM
Moutsatsou, P
