PMID- 17109894 OWN - NLM STAT- MEDLINE DCOM- 20070313 LR - 20140729 IS - 0022-510X (Print) IS - 0022-510X (Linking) VI - 252 IP - 1 DP - 2007 Jan 15 TI - Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population. PG - 9-12 AB - 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. 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 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. FAU - Tajouri, Lotti AU - Tajouri L AD - Genomics Research Centre, School of Health Science, Griffith University Gold Coast, Southport, Queensland 4215, Australia. FAU - Fernandez, Francesca AU - Fernandez F FAU - Tajouri, Sophie AU - Tajouri S FAU - Detriche, Geraldine AU - Detriche G FAU - Szvetko, Attila AU - Szvetko A FAU - Colson, Natalie AU - Colson N FAU - Csurhes, Peter AU - Csurhes P FAU - Pender, Michael P AU - Pender MP FAU - Griffiths, Lyn R AU - Griffiths LR LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20061115 PL - Netherlands TA - J Neurol Sci JT - Journal of the neurological sciences JID - 0375403 RN - 0 (Estrogen Receptor alpha) SB - IM MH - Alleles MH - Australia/epidemiology MH - Case-Control Studies MH - Chi-Square Distribution MH - DNA Mutational Analysis MH - Estrogen Receptor alpha/*genetics MH - Exons MH - Female MH - Gene Frequency MH - Humans MH - Introns MH - Linkage Disequilibrium MH - Male MH - Multiple Sclerosis/*genetics MH - *Polymorphism, Genetic EDAT- 2006/11/18 09:00 MHDA- 2007/03/14 09:00 CRDT- 2006/11/18 09:00 PHST- 2006/06/27 00:00 [received] PHST- 2006/09/20 00:00 [revised] PHST- 2006/09/22 00:00 [accepted] PHST- 2006/11/18 09:00 [pubmed] PHST- 2007/03/14 09:00 [medline] PHST- 2006/11/18 09:00 [entrez] AID - S0022-510X(06)00426-6 [pii] AID - 10.1016/j.jns.2006.09.018 [doi] PST - ppublish SO - J Neurol Sci. 2007 Jan 15;252(1):9-12. doi: 10.1016/j.jns.2006.09.018. Epub 2006 Nov 15.