Unraveling the association between COL4A2 polymorphisms and intracerebral hemorrhage

2025

Full text Open access: Gold Metadata (CSL-JSON)
DOI 10.25259/jnrp_103_2025
Data confidence 70 medium
How this score is calculated

It is built from checkable properties of the record itself: whether the article has a DOI, how many independent sources confirmed its data, whether the required fields are filled in, and how recent the latest confirmation is. Disagreement between sources and a missing identifier lower it. A value of 80 or above means the record was published without further checking; 60 to 79 means it is published at reduced confidence, with a manual check advisable. A record verified by an editor by hand is never pushed below 90 by a recalculation. This scores our data about the article, not the article itself.

Abstract

Objectives: Intracerebral hemorrhage (ICH) is a common disease worldwide, known for its high mortality and disability rates. Due to significant population and ethnic differences, the aim of this study was to identify the risk factors for the development of ICH in the Kazakh population. Materials and Methods: The case–control study included 162 patients with verified ICH and 165 people in the control group. To assess the risk of developing ICH, medical and social risk factors, as well as genetic risk factors (polymorphisms in the COL4A2 gene: rs9521732, rs9521733, rs9515199), were studied. Results: The study revealed a statistically significant effect of the following medical, social, and genetic factors on the risk of ICH in the main ethnic population of Kazakhstan: diabetes mellitus, arterial hypertension, moderate-to-heavy alcohol consumption, and the rs9515199 polymorphism. Specifically, under the co-dominant model, the C/T and C/C genotypes were significant; under the dominant model, the C/T-C/C genotype combination was significant; and under the recessive model, the C/C homozygote was significant. Conclusion: The findings indicate that the rs9515199 polymorphism in the COL4A2 gene significantly decreases the risk of ICH in the Kazakh population, which contrasts with findings in other populations. Further research is needed to confirm these results and explore their practical applications.