rs111704647 - CHRNA3
Magnitude 2.8 · 2 studies on file
Reported associations
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Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility. - American journal of human genetics (2025) · Betti MJ, Jaworski J, Zhao S, Rao JS, Ryan BM, Schwartz AG, Lusk CM, McCoy L, Wiencke JK, Bruce MA, Chanock S, Gamazon ER, Hellwege JN, Aldrich MC · PubMed 40829600
Striking disparities in lung cancer exist, with Black/African American individuals disproportionately affected by lung cancer, yet the genetic architecture in African ancestry individuals is poorly understood. We aimed to address this by performing a comprehensive genetic association study of lung cancer, incorporating local ancestry, across 6,490 African ancestry individuals (2,390 individuals with lung cancer and 4,100 control subjects). We identified a single genome-wide significant (p < 5 × 10 ) locus, 15q25.1 (lead SNP rs17486278, OR [95% CI] = 1.34 [1.23-1.45], p = 4.52 × 10 ), that has consistently shown a strong association with lung cancer across populations. Additionally, we identified nine suggestive (p < 1 × 10 ) loci. Four of these loci (3p12.1, 8q22.2, 14q11.2, and 18q22.3
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Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449
ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Lifestyle
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smoking High
CHRNA3 T-allele increases lung cancer risk 1.35-fold in smokers through altered nicotinic signaling and receptor function.
if smoker, prioritize cessation; if never-smoker, avoid initiation
Screening
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aortic aneurysm screening High
CHRNA3 C-allele increases aortic aneurysm risk; nicotinic signaling regulates vascular smooth muscle tone and arterial remodeling.
discuss with doctor; consider aortic ultrasound or CT if clinically appropriate