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Evaluation of a Apo-1/Fas promoter polymorphism in Korean stroke patients
Jung-Chul Seo1, Sang-Won Han, Chang-Sik Yin
1Department of Acupuncture and Moxibustion, College of Oriental Medicine, Kyungsan University, Gumi 730-090, Korea.
Abstract:
Apoptosis has been implicated in the pathogenesis of neurodegenerative diseases such as stroke and Alzheimer's disease. Apo-1/Fas gene is one of the mediators of apoptosis in stroke. Mval polymorphism is the first polymorphic marker identified in the Apo-1/Fas gene promoter, which was typed by PCR and followed by Mval digestion and gel electrophoresis. DNA isolated from peripheral blood collected from 91 stroke patients and 103 healthy blood donors was used for genotypes of GG, GA and AA by sequence specific primer PCR. Mval polymorphism was examined based on Fas gene promotor region by restriction fragment length polymorphism (RFLP). The Fas-GG genotype was the least frequent in patients with stroke and healthy controls (P = 0.57). In normal Korean controls the Mval polymorphism GA, AA and GG were 48.6%, 34.9% and 16.5%. In stroke patients were 56.2%, 29.6% and 14.2% respectively. And the allelic frequencies of Mval*2 (G) allele were less frequent than Mval*1 (A) allele in patients with stroke and healthy controls (P = 0.76). In normal Korean controls Mval*1 (A) and Mval*2 (G) alleles were 59.2% and 40.8%. In stroke patients were 57.6% and 42.4%, respectively. Our results, pending confirmation in a larger study, indicate that the Fas genotype may not appear to be a risk factor for stroke in Korean stroke patients.
Insights
This study investigated the Mval polymorphism in the Apo-1/Fas gene promoter and its association with stroke risk in Korean patients. The Fas genotype did not appear to be a significant risk factor for stroke.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Apoptosis plays a role in neurodegenerative diseases like stroke.
- The Apo-1/Fas gene is a key mediator of apoptosis.
- Mval polymorphism in the Apo-1/Fas gene promoter is a known genetic marker.
Purpose of the Study:
- To investigate the association between Mval polymorphism in the Apo-1/Fas gene promoter and stroke risk.
- To determine the genotypic and allelic frequencies of Mval polymorphism in Korean stroke patients and healthy controls.
Main Methods:
- DNA was isolated from peripheral blood of 91 stroke patients and 103 healthy controls.
- Mval polymorphism was analyzed using sequence-specific primer PCR and restriction fragment length polymorphism (RFLP).
- Genotypes (GG, GA, AA) and allele frequencies (Mval*1 (A), Mval*2 (G)) were determined.
Main Results:
- The Fas-GG genotype was infrequent in both stroke patients and controls.
- Genotypic frequencies for Mval polymorphism in controls were GA (48.6%), AA (34.9%), GG (16.5%), and in stroke patients were GA (56.2%), AA (29.6%), GG (14.2%).
- Allelic frequencies for Mval*1 (A) and Mval*2 (G) were similar between stroke patients (57.6%, 42.4%) and controls (59.2%, 40.8%).
Conclusions:
- The Fas genotype, specifically Mval polymorphism, does not appear to be a significant risk factor for stroke in the studied Korean population.
- Further validation in larger studies is recommended to confirm these findings.