Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population

Lotti Tajouri, Francesca Fernandez, Sophie Tajouri, Geraldine Detriche, Attila L Szvetko, Natalie Colson, Peter A Csurhes, Michael P. Pender, Lyn R. Griffiths*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

6 Citations (Scopus)


Multiple Sclerosis (MS) is a central nervous system (CNS) chronic inflammatory demyetinating disease leading to various neurological disabilities. The disorder is more prevalent for women with a ratio of 3:2 female to male. Objectives: To investigate variation within the estrogen receptor 1 (ESR1) polymorphism gene in an Australian MS case-control population using two intragenic restriction fragment length polymorphisms; the G594A located in exon 8 detected with the Btgl restriction enzyme and T938C located in intron 1, detected with PvuII. One hundred and ten Australian MS patients were studied, with patients classified clinically as Relapsing Remitting MS (RR-MS), Secondary Progressive MS (SP-MS) or Primary Progressive MS (PP-MS). Also, 110 age, sex and ethnicity matched controls were investigated as a comparative group. No significant difference in the allelic distribution frequency was found between the case and control groups for the ESR1 PvuII (P=0.50) and Btg1 (P=0.45) marker. Our results do not support a role for these two ESR1 markers in multiple sclerosis susceptibility, however other markers within ESR1 should not be excluded for potential involvement in the disorder. (c) 2006 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)9-12
Number of pages4
JournalJournal of the Neurological Sciences
Issue number1
Publication statusPublished - 15 Jan 2007
Externally publishedYes


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