Endoglin gene insertion polymorphism not associated with aneurysmal subarachnoid hemorrhage

Area of Science:

• Genetics
• Neurology
• Cardiovascular Research

Background:

• Intracranial aneurysms (IAs) are a significant cause of subarachnoid hemorrhage (SAH).
• Previous studies suggest a potential association between the ENG gene intronic insertion polymorphism and IAs, but findings are inconsistent.
• The ENG gene, encoding endoglin, plays a role in vascular development and integrity.

Purpose of the Study:

• To investigate the association between the ENG gene intronic insertion polymorphism and aneurysmal subarachnoid hemorrhage (SAH).
• To determine if this genetic polymorphism is a risk factor for SAH in a Polish population.

Main Methods:

• A case-control study was conducted with 119 patients diagnosed with aneurysmal SAH and 119 sex-matched healthy controls.
• The ENG gene intronic insertion polymorphism in intron 7 was genotyped using the polymerase chain reaction-single-strand chain polymorphism (PCR-SSCP) method.
• Allele and genotype frequencies were compared between the SAH and control groups.

Main Results:

• The distribution of the insertion allele of the ENG gene polymorphism did not significantly differ between patients with SAH (13%) and healthy controls (16%) (p = 0.36).
• Frequencies of the homozygous insertion/insertion genotype were also comparable between the SAH group (3.4%) and the control group (0.8%) (p = 0.18).
• These findings indicate no statistically significant association.

Conclusions:

• This study failed to establish a significant association between the intronic insertion polymorphism of the ENG gene and aneurysmal SAH in the studied Polish population.
• The ENG gene intronic insertion polymorphism is unlikely to be a major genetic risk factor for SAH in this demographic.
• Further research with larger cohorts and diverse populations may be warranted to fully elucidate the role of ENG gene variants in IA pathogenesis.