@article{3054333,
    title = "Molecular analysis of estrogen receptor alpha and beta in lupus patients",
    author = "Kassi, EN and Vlachoyiannopoulos, PG and Moutsopoulos, HM and Sekeris, and CE and Moutsatsou, P",
    journal = "European Journal of Clinical Investigation",
    year = "2001",
    volume = "31",
    number = "1",
    pages = "86-93",
    publisher = "Blackwell Science Ltd Oxford, UK",
    issn = "0014-2972, 1365-2362",
    doi = "10.1046/j.1365-2362.2001.00762.x",
    keywords = "autoimmunity; estrogen; mutation; receptor; splicing variants; systemic
lupus erythematosus",
    abstract = "Background In female patients with systemic lupus erythematosus (SLE),
we identified estrogen receptor ERa, ERb and ERa variant transcripts in
peripheral blood mononuclear cells (PBMC). Exon 1 and 2 of ERa gene was
subjected to mutation analysis to assess whether possible nucleotide
alterations are linked to the disease.
Methods The whole coding sequence of ERa was analysed by reverse
transcription polymerase chain reaction (RT-PCR) and cDNA sequencing in
PBMC prepared from 19 SLE patients and 12 healthy females. ERa exon 1
and exon 2 were subjected to mutation analysis using DNA isolated from
whole blood of 21 SLE patients and 29 healthy females. The aminoterminal
coding sequence of ERb was also analysed by RT-PCR.
Results Wild type ERa and ERa splicing variants with deletions in exons
2, 5 and 7 were detected both in healthy individuals and in SLE
patients, with no qualitative difference in their expression among the
two populations. In ERa exon 1, the polymorphisms identified codon 10
and codon 87, both in patients and in healthy individuals who were not
associated with the disease. No other mutations were present in ERa exon
1 or ERa exon 2 in all subjects studied. ERb was expressed in both
populations.
Conclusion: PBMC of SLE patients express wild type ERa, ERb and the same
ERa variants as do healthy individuals. Genetic alterations in exon 1
and exon 2 of the ERa gene are not linked with SLE disease."
}