Key result
rs7635818 CC genotype linked to ~123% higher abdominal aortic aneurysm risk versus GG.
Why the study?
The association between gene variant rs7635818 on chromosome 3p12.3 and abdominal aortic aneurysm was not unambiguously determined by previous genome-wide association studies.
Is the rs7635818 polymorphism associated with the presence and severity of abdominal aortic aneurysm in the Slovak population?
Cross-Sectional (n=329)
No
Is the rs7635818 polymorphism associated with the presence and severity of abdominal aortic aneurysm in the Slovak population?
The C-allele variant of the rs7635818 polymorphism is significantly associated with a higher probability of developing abdominal aortic aneurysm and larger aortic diameter in the Slovak population.
Answers are grounded in this paper and cite their sources.
CC genotype of rs7635818 was associated with higher AAA risk and diameter; hypothesis-generating, requires prospective validation before any clinical use.
The association between gene variant rs7635818 located on chromosome 3p12.3 and abdominal aortic aneurysm (AAA) was not unambiguously determined by the results of genome-wide association studies. The aim of our study was to examine this possible association in the Slovak population, with respect to the presence and severity of AAA.A cross-sectional study was conducted between August 2016 and March 2020. The study included 329 participans, 166 AAA patients and a control group of 163 subjects without confirmed AAA with comparable distribution of genders. The anteroposterior diameter of the abdominal aorta was determined by duplex ultrasonography. AAA was defined as subrenal aortic diameter ≥ 30 mm. DNA samples were genotyped using real-time polymerase chain reaction and subsequent high-resolution melting analysis in presence of unlabelled probe. Genetic models studying the possible association were adjusted to age, sex, smoking, arterial hypertension, diabetes mellitus, creatinine and body mass index (BMI) in multivariate analysis. In the additive model, presence of each C-allele of rs7635818 polymorphism was associated with an almost 50 % increase in probability of developing AAA (OR 1.49; 95 % CI 1.06-2.08; p=0.020). Compared to GG homozygotes, CC homozygotes had more than two times higher risk of developing AAA (OR 2.23; 95 % CI 1.14-4.39; p=0.020). The risk of AAA was also in the recessive model higher for CC homozygotes compared to G-allele carriers (GC/GG) (OR 1.79; 95 % CI 1.01-3.19; p=0.047).The abdominal aortic diameter in CC homozygotes of the rs7635818 polymorphism was 7.66 mm greater compared to GG homozygotes (42.5±22.0 mm vs 34.8±21.3 mm; p=0.022) and 5.88 mm greater compared to G-allele carriers (GC/GG) (42.5±22.0 mm vs 36.6±21.0 mm; p=0.04) in univariate analysis. C-allele variant in rs7635818 G>C polymorphism is associated with a higher probability of developing AAA in the Slovak population.
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Rašiová et al. (2021) conducted a cross-sectional in Abdominal aortic aneurysm (n=329). rs7635818 polymorphism (CC homozygosity) vs. GG homozygotes was evaluated on Presence of abdominal aortic aneurysm (OR 2.23, 95% CI 1.14-4.39, p=0.020). CC homozygotes of the rs7635818 polymorphism had a more than two-fold higher risk of developing an abdominal aortic aneurysm compared to GG homozygotes.
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