ERCC1 polymorphism and its expression associated with ischemic stroke in Chinese population

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Excision repair cross-complementing group 1 (ERCC1) is a candidate gene for ischemic stroke.
• ERCC1 gene polymorphisms may influence susceptibility to ischemic stroke.

Purpose of the Study:

• To investigate the association between ERCC1 rs3212986 polymorphism and expression levels with ischemic stroke risk.
• To analyze the role of ERCC1 in the pathophysiology of ischemic stroke.

Main Methods:

• Quantitative real-time PCR (qPCR) and enzyme-linked immunosorbent assay (ELISA) were used to measure ERCC1 mRNA and protein levels, respectively.
• PCR-restriction fragment length polymorphism (RFLP-PCR) and sequencing were employed to detect the ERCC1 rs3212986 polymorphism.
• Statistical analyses were performed to assess the association between the polymorphism, expression levels, and ischemic stroke.

Main Results:

• ERCC1 mRNA levels were lower, while protein levels were higher in ischemic stroke patients compared to controls.
• The A allele of ERCC1 rs3212986 was associated with an increased risk of ischemic stroke (OR = 1.287, P = 0.006).
• The rs3212986 polymorphism showed significant associations with ischemic stroke susceptibility in recessive and additive models.

Conclusions:

• The ERCC1 rs3212986 polymorphism is associated with ischemic stroke susceptibility in the Chinese Han population.
• The A allele of rs3212986 may increase ischemic stroke risk.
• Altered ERCC1 expression due to rs3212986 polymorphism might play a role in ischemic stroke pathophysiology.