ArticleAmerican journal of human genetics2015
Low-frequency coding variants at 6p21.33 and 20q11.21 are associated with lung cancer risk in Chinese populations.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- A systematic review of observational studies on long-term air pollution exposure and epigenetic alterations in adults.Journal of global health · 2026Pooled it
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- Formal Statistical Replication Analysis in Lung Cancer Genome-Wide Association Studies.medRxiv : the preprint server for health sciences · 2025Article
- Non-coding genetic elements of lung cancer identified using whole genome sequencing in 13,722 Chinese.Nature communications · 2025Article
- CLCA1 and BPIFB1 are potential novel biomarkers for asthma: an iTRAQ analysis.Journal of thoracic disease · 2024Article
- BPIFB1 promotes metastasis of hormone receptor-positive breast cancer via inducing macrophage M2-like polarization.Cancer science · 2023Article
- Integrative analysis of GWAS and transcriptomics data reveal key genes for non-small lung cancer.Medical oncology (Northwood, London, England) · 2023Article
- The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis.Nature communications · 2023Article
- Simulated Microgravity Influences Immunity-Related Biomarkers in Lung Cancer.International journal of molecular sciences · 2022Article
- Etiology of lung cancer: Evidence from epidemiologic studies.Journal of the National Cancer Center · 2022Review
- Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk.Translational lung cancer research · 2022Article
- Genome-Wide Identification ofFrontiers in endocrinology · 2022Article
- Identification of low-frequency variants of UGT1A3 associated with bladder cancer risk by next-generation sequencing.Oncogene · 2021Article
- Significance of DMBT1 in Papillary Thyroid Carcinoma Concurrent With Hashimoto's Thyroiditis.Frontiers in oncology · 2021Article
- Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients WithFrontiers in oncology · 2021Article
- Quantifying posterior effect size distribution of susceptibility loci by common summary statistics.Genetic epidemiology · 2020Article
- Molecular biology of BPIFB1 and its advances in disease.Annals of translational medicine · 2020Review
- Article
- Reshaping the role of m6A modification in cancer transcriptome: a review.Cancer cell international · 2020Review
- A Weighted Genetic Risk Score Based on Four APOE-Independent Alzheimer's Disease Risk Loci May Supplement APOE E4 for Better Disease Prediction.Journal of molecular neuroscience : MN · 2019Article
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22 authors at 7 institutions in 2 countries.
Funding
Abstract
Genome-wide association studies have successfully identified a subset of common variants associated with lung cancer risk. However, these variants explain only a fraction of lung cancer heritability. It has been proposed that low-frequency or rare variants might have strong effects and contribute to the missing heritability. To assess the role of low-frequency or rare variants in lung cancer development, we analyzed exome chips representing 1,348 lung cancer subjects and 1,998 control subjects during the discovery stage and subsequently evaluated promising associations in an additional 4,699 affected subjects and 4,915 control subjects during the replication stages. Single-variant and gene-based analyses were carried out for coding variants with a minor allele frequency less than 0.05. We identified three low-frequency missense variants in BAT2 (rs9469031, c.1544C>T [p.Pro515Leu]; odds ratio [OR] = 0.55, p = 1.28 × 10(-10)), FKBPL (rs200847762, c.410C>T [p.Pro137Leu]; OR = 0.25, p = 9.79 × 10(-12)), and BPIFB1 (rs6141383, c.850G>A [p.Val284Met]; OR = 1.72, p = 1.79 × 10(-7)); these variants were associated with lung cancer risk. rs9469031 in BAT2 and rs6141383 in BPIFB1 were also associated with the age of onset of lung cancer (p = 0.001 and 0.006, respectively). BAT2 and FKBPL at 6p21.33 and BPIFB1 at 20q11.21 were differentially expressed in lung tumors and paired normal tissues. Gene-based analysis revealed that FKBPL, in which two independent variants were identified, might account for the association with lung cancer risk at 6p21.33. Our results highlight the important role low-frequency variants play in lung cancer susceptibility and indicate that candidate genes at 6p21.33 and 20q11.21 are potentially biologically relevant to lung carcinogenesis.
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