Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population
| Autor: | Attila Laszlo Szvetko, Natalie Jane Colson, Peter A. Csurhes, Sophie Tajouri, Geraldine Detriche, Michael P. Pender, Lyn R. Griffiths, Lotfi Tajouri, Francesca Fernandez |
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| Rok vydání: | 2007 |
| Předmět: |
Male
Multiple Sclerosis DNA Mutational Analysis Population Biology Linkage Disequilibrium Central nervous system disease Gene Frequency Polymorphism (computer science) medicine Humans education Allele frequency Alleles education.field_of_study Chi-Square Distribution Polymorphism Genetic Multiple sclerosis Australia Estrogen Receptor alpha Case-control study Exons medicine.disease Introns Neurology Case-Control Studies Immunology Female Neurology (clinical) Restriction fragment length polymorphism Estrogen receptor alpha |
| Zdroj: | Journal of the Neurological Sciences. 252:9-12 |
| ISSN: | 0022-510X |
| DOI: | 10.1016/j.jns.2006.09.018 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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