rs112878080 - CHRNA3

Magnitude 2.2 · 2 studies on file

Reported associations

• 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

• Genome-Wide Association Analysis of Single-Breath Dl . - American journal of respiratory cell and molecular biology (2019) · Sakornsakolpat P, McCormack M, Bakke P, Gulsvik A, Make BJ, Crapo JD, Cho MH, Silverman EK · PubMed 30694715

  Dl is a widely used pulmonary function test in clinical practice and a particularly useful measure for assessing patients with chronic obstructive pulmonary disease (COPD). We hypothesized that elucidating genetic determinants of Dl could lead to better understanding of the genetic architecture of COPD. We estimated the heritability of Dl using common genetic variants and performed genome-wide association analyses in four cohorts enriched for subjects with COPD (COPDGene [Genetic Epidemiology of COPD], NETT [National Emphysema Treatment Trial], GenKOLS [Genetics of Chronic Obstructive Lung Disease study], and TESRA [Treatment of Emphysema With a Gamma-Selective Retinoid Agonist study]) using a combined European ancestry white dataset and a COPDGene African American dataset. We assessed our

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