rs11639372 - CHRNB4

Magnitude 2.2 · 3 studies on file

Reported associations

  • Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis - Unknown journal (n.d.) · Unknown authors · PubMed 37340002

    ABSTRACT: Integrating genomic data of multiple cancers allows de novo cancer grouping and elucidating the shared genetic basis across cancers. Here, we conduct the pan-cancer and cross-population genome-wide association study (GWAS) meta-analysis and replication studies on 13 cancers including 250,015 East Asians (Biobank Japan) and 377,441 Europeans (UK Biobank). We identify ten cancer risk variants including five pleiotropic associations (e.g., rs2076295 at DSP on 6p24 associated with lung cancer and rs2525548 at TRIM4 on 7q22 nominally associated with six cancers). Quantifying shared heritability among the cancers detects positive genetic correlations between breast and prostate cancer across populations. Common genetic components increase the statistical power, and the large-scale meta

  • Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes - Unknown journal (n.d.) · Unknown authors · PubMed 28604730

    ABSTRACT: Summary While several lung cancer susceptibility loci have been identified, much of lung cancer heritability remains unexplained. Here, 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated GWAS analysis of lung cancer on 29,266 patients and 56,450 controls. We identified 18 susceptibility loci achieving genome wide significance, including 10 novel loci. The novel loci highlighted the striking heterogeneity in genetic susceptibility across lung cancer histological subtypes, with four loci associated with lung cancer overall and six with lung adenocarcinoma. Gene expression quantitative trait analysis (eQTL) in 1,425 normal lung tissues highlighted RNASET2, SECISBP2L and NRG1 as candidate genes. Other

  • A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry - Unknown journal (n.d.) · Unknown authors · PubMed 26634245

    ABSTRACT: Background Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC). We also conducted meta-analysis of FEV1 and FEV1/FVC GWAS in the COPDGene, ECLIPSE, and GenKOLS cohorts (total n = 13,532). Results Among NHW in the COPDGene cohort, both measures of pulmonary function were significantly associated with SNPs at the 15q25 locus [containing CHRNA3/5, AGPHD1, IREB2, CHRNB4] (low


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Lifestyle

  • smoking and tobacco products High

    CHRNB4 risk allele carriers show 1.19-1.30x increased lung cancer risk; gene encodes nicotinic acetylcholine receptor subunit involved in smoking susceptibility

    complete avoidance recommended

Screening

  • early lung cancer screening protocol High

    T allele carriers at rs11639372 have significantly elevated lung cancer risk (OR 1.19-1.30 across cohorts); baseline imaging and screening frequency should be individualized

    schedule discussion with pulmonologist or oncologist regarding appropriate screening timing and modality