TY - JOUR
T1 - Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population
AU - Tajouri, Lotti
AU - Fernandez, Francesca
AU - Tajouri, Sophie
AU - Detriche, Geraldine
AU - Szvetko, Attila L
AU - Colson, Natalie
AU - Csurhes, Peter A
AU - Pender, Michael P.
AU - Griffiths, Lyn R.
PY - 2007/1/15
Y1 - 2007/1/15
N2 - 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.
AB - 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.
U2 - 10.1016/j.jns.2006.09.018
DO - 10.1016/j.jns.2006.09.018
M3 - Article
SN - 0022-510X
VL - 252
SP - 9
EP - 12
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 1
ER -