rs117755454 - GABRG3
Magnitude 4.5 · 1 study on file
Reported associations
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Identification of novel genetic susceptibility loci for thoracic and abdominal aortic aneurysms via genome-wide association study using the UK Biobank Cohort - Unknown journal (n.d.) · Unknown authors · PubMed 34469433
ABSTRACT: Background Thoracic aortic aneurysm (TAA) and abdominal aortic aneurysm (AAA) are known to have a strong genetic component. Methods and results In a genome-wide association study (GWAS) using the UK Biobank, we analyzed the genomes of 1,363 individuals with AAA compared to 27,260 age, ancestry, and sex-matched controls (1:20 case:control study design). A similar analysis was repeated for 435 individuals with TAA compared to 8,700 controls. Polymorphism with minor allele frequency (MAF) >0.5% were evaluated. We identified novel loci near LINC01021, ATOH8 and JAK2 genes that achieved genome-wide significance for AAA (p-value <5x10-8), in addition to three known loci. For TAA, three novel loci in CTNNA3, FRMD6 and MBP achieved genome-wide significance. There was no overlap in the ge
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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blood pressure monitoring Moderate
Hypertension accelerates aortic wall degeneration and aneurysm progression in thoracic aortic disease.
Home monitoring 2-3 times weekly, target systolic blood pressure less than 130 mmHg
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thoracic aortic imaging evaluation Moderate
GABRG3 variant rs117755454 is associated with increased thoracic aortic aneurysm risk; baseline imaging establishes aortic diameter and detects existing aneurysm.
Discuss baseline aortic ultrasound or CT with cardiologist to establish baseline aortic dimensions