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. 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.

Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk

“…Polymerase chain reactions (PCRs) were carried out in a total volume of 50 µl, containing genomic DNA, 2-6 pmol of each primer, 1X Taq polymerase buffer (1.5 mM MgCl 2 ), and 0.25 units of AmpliTaq DNA polymerase (Applied Biosystems, Foster City, CA, USA). The primer for the ESR1 rs17847075 (exon 1 C/T), ESR1 rs2207647 (exon 1 G/A), ESR1 rs2234693 (intron 1 T/C), ESR1 rs3798577 (exon 8 C/T), and ESR1 rs2228480 (exon 8 G/A) gene polymorphisms are listed in Table 1 [13][14][15][16][17]. PCR amplification was performed in a programmable thermal cycle GeneAmp PCR System 2400 (Applied Biosystems, Foster City, CA, USA).…”

“…Our hypothesis is that genetic variations in the ERα gene might alter the expression of the gene and put women at the risk of POP. In the present study, we investigated a total of five polymorphisms in the ERα gene: ESR1 rs17847075 (exon 1 C/T), ESR1 rs2207647 (exon 1 G/A), ESR1 rs2234693 (intron 1 T/C), ESR1 rs3798577 (exon 8 C/T), and ESR1 rs2228480 (exon 8 G/A) [13][14][15][16][17]. We evaluated the correlations between these polymorphisms and POP risk.…”

An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

“…It is an inflammatory, demyelinating, neurodegenerative disease affecting the central nervous system (CNS) destroying myelin, oligodendrocytes, axons and neurons [2,3]. This disease is predominantly found in Caucasians with an onset between 18 and 40 years [4]. Onset of MS varies from early childhood to adult life, affecting more than 25,000 people in Australia in 2017 [5] and 2.3 million people worldwide in 2013 [6].…”

“…Neurodegeneration is the major cause of permanent neurological disability in MS patients [13]. In the CNS, neurons are composed of an oligodendrocyte axon surrounded by myelin, a lipid-rich insulating sheath [19] that allows rapid conduction of nerve impulses in the form of an action potential [4]. Degradation of the myelin sheath, and hence axonal damage, resulting from deregulation of the immune system results in partial or complete blockage of CNS signal pathways [9,13].…”