title: Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population.
abstract: Multiple Sclerosis (MS) is a central nervous system (CNS) chronic inflammatory demyelinating disease leading to various neurological disabilities. The disorder is more prevalent for women with a ratio of 3:2 female to male.
  
  
  OBJECTIVE
  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 BtgI 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.
authors.affiliation: Genomics Research Centre, School of Health Science, Griffith University Gold Coast, Southport, Queensland 4215, Australia.
authors.forename: Lotti
authors.initials: L
authors.lastname: Tajouri
authors.forename: Francesca
authors.initials: F
authors.lastname: Fernandez
authors.forename: Sophie
authors.initials: S
authors.lastname: Tajouri
authors.forename: Geraldine
authors.initials: G
authors.lastname: Detriche
authors.forename: Attila
authors.initials: A
authors.lastname: Szvetko
authors.forename: Natalie
authors.initials: N
authors.lastname: Colson
authors.forename: Peter
authors.initials: P
authors.lastname: Csurhes
authors.forename: Michael P
authors.initials: MP
authors.lastname: Pender
authors.forename: Lyn R
authors.initials: LR
authors.lastname: Griffiths
mesh_terms: D000483:Alleles; D001315:Australia / Q000453:epidemiology; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D047628:Estrogen Receptor alpha