rs114228595 - OMA1 - RN7SL713P
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.
Discuss with your doctor
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AAA genetic predisposition and screening approach Moderate
rs114228595 associated with 64% increased abdominal aortic aneurysm risk
Schedule discussion to assess individual risk and determine screening recommendations
Screening
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Abdominal aortic aneurysm imaging Moderate
Genetic predisposition warrants baseline assessment to guide surveillance strategy
Discuss with physician regarding screening timing and follow-up intervals