0 Evaluaciones

ID

45152

Descripción

Principal Investigator: Maria Teresa Landi, Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Lung Neoplasms,Smoking https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000336 Three genetic loci for lung cancer risk have been identified by genome-wide association studies (GWAS), but inherited susceptibility to specific histologic types of lung cancer is not well established. We conducted a GWAS of lung cancer and its major histologic types genotyping 515,922 single nucleotide polymorphisms (SNPs) in 5,739 incident lung cancer cases and 5,848 controls from one population-based case-control study and three cohort studies. Results were combined with summary data from 10 additional studies for a total of 13,300 cases and 19,666 controls of European descent. Four studies also provided histology data for replication resulting in 3,333 adenocarcinomas (AD), 2,589 squamous cell carcinomas (SQ), and 1,418 small cell carcinomas (SC). In analyses by histology, rs2736100 (*TERT*) on chromosome 5p15.33, was associated with risk of adenocarcinoma (OR=1.23, 95%CI=1.13-1.33, P=3.02x10sup-7/sup), but not other histologic types (OR=1.01, P=0.84, and OR=1.00, P=0.93, for SQ and SC, respectively). This finding was confirmed in each replication study and overall meta-analysis (OR=1.24, 95%CI=1.17-1.31, P=3.74x10sup-14/sup for AD and OR=0.99, P=0.69 and OR=0.97, P=0.48, for SQ and SC, respectively). Other previously reported association signals on 15q25 and 6p21 were also refined, but no additional loci reached genome-wide significance. In conclusion, a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma. *Note: The lung study dataset to be released to dbGaP and caBIG excludes 47 individuals from the PLCO cohort who consented to participate only in cancer research projects and 22 individuals because of updated QC. Thus, the released dataset is derived from 11517 subjects, 5699 cases and 5818 controls. After the updated QC, the dataset to be released to dbGaP and caBIG includes 506062 SNPs.*

Link

dbGaP study = phs000336

Palabras clave

  1. 10/9/22 10/9/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Maria Teresa Landi, Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

Subido en

12 de octubre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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    dbGaP phs000336 DCEG Lung Cancer Study

    Subject ID, consent groups, and affection status of intact or affected with lung cancer including adenocarcinomas, squamous cell carcinomas, and small cell carcinomas participants.

    pht002218
    Descripción

    pht002218

    De-identified subject ID
    Descripción

    SUBJID

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C2346787 (Anonymous)
    UMLS CUI [1,2]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group as determined by DAC
    Descripción

    CONSENT

    Tipo de datos

    text

    Alias
    UMLS CUI [1,1]
    C1257890 (Population Group)
    SNOMED
    389109008
    LOINC
    LA12078-4
    UMLS CUI [1,2]
    C0021430 (Informed Consent)
    Case control status of the subject [CASE, CONTROL]
    Descripción

    Affection Status

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C3274646 (Participant Case or Control Status)

    Similar models

    Subject ID, consent groups, and affection status of intact or affected with lung cancer including adenocarcinomas, squamous cell carcinomas, and small cell carcinomas participants.

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    Alias
    Item Group
    pht002218
    SUBJID
    Item
    De-identified subject ID
    string
    C2346787 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    Item
    Consent group as determined by DAC
    text
    C1257890 (UMLS CUI [1,1])
    C0021430 (UMLS CUI [1,2])
    Code List
    Consent group as determined by DAC
    CL Item
    Cancer in all age groups, other diseases in adults only, and methods (CADM) (1)
    CL Item
    Research related to lung diseases and smoking (SLD) (2)
    Affection Status
    Item
    Case control status of the subject [CASE, CONTROL]
    string
    C3274646 (UMLS CUI [1,1])

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