0 Ratings

ID

45152

Description

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

Keywords

  1. 9/10/22 9/10/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

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

Uploaded on

October 12, 2022

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000336 DCEG Lung Cancer Study

    Subject ID, affection status, gender, age at diagnosis, and principal components for population stratification contain "the Environment and Genetics in Lung Cancer Etiology (EAGLE)," "the Prostate, Lung, Colon, Ovary Screening Trial (PLCO)," "the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study (ATBC)," and "the Cancer Prevention Study II Nutrition Cohort (CPS-II)" cohorts of intact or affected with lung cancer including adenocarcinomas, squamous cell carcinomas, and small cell carcinomas participants.

    pht002220
    Description

    pht002220

    De-identified subject ID
    Description

    SUBJID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2346787
    UMLS CUI [1,2]
    C2348585
    Name of the study
    Description

    STUDY

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2348560
    Case or control? [CASE, CONTROL]
    Description

    CASECONTROL

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C3274646
    Gender of participant [FEMALE, MALE]
    Description

    GENDER

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0079399
    Age-at-diagnosis/interview for case-control study and baseline age for cohort studies in 5 year interval
    Description

    AGE

    Data type

    string

    Measurement units
    • Years old
    Alias
    UMLS CUI [1,1]
    C1828181
    UMLS CUI [2,1]
    C0001779
    UMLS CUI [2,2]
    C0021822
    Years old
    Principal components for population stratification
    Description

    EAGLE_EV2

    Data type

    float

    Alias
    UMLS CUI [1,1]
    C0429865
    UMLS CUI [1,2]
    C3258049
    Principal components for population stratification
    Description

    PLCO_EV4

    Data type

    float

    Alias
    UMLS CUI [1,1]
    C0429865
    UMLS CUI [1,2]
    C3258049
    Principal components for population stratification
    Description

    PLCO_EV5

    Data type

    float

    Alias
    UMLS CUI [1,1]
    C0429865
    UMLS CUI [1,2]
    C3258049
    Principal components for population stratification
    Description

    ATBC_EV2

    Data type

    float

    Alias
    UMLS CUI [1,1]
    C0429865
    UMLS CUI [1,2]
    C3258049

    Similar models

    Subject ID, affection status, gender, age at diagnosis, and principal components for population stratification contain "the Environment and Genetics in Lung Cancer Etiology (EAGLE)," "the Prostate, Lung, Colon, Ovary Screening Trial (PLCO)," "the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study (ATBC)," and "the Cancer Prevention Study II Nutrition Cohort (CPS-II)" cohorts of intact or affected with lung cancer including adenocarcinomas, squamous cell carcinomas, and small cell carcinomas participants.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht002220
    SUBJID
    Item
    De-identified subject ID
    string
    C2346787 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    STUDY
    Item
    Name of the study
    string
    C2348560 (UMLS CUI [1,1])
    CASECONTROL
    Item
    Case or control? [CASE, CONTROL]
    string
    C3274646 (UMLS CUI [1,1])
    GENDER
    Item
    Gender of participant [FEMALE, MALE]
    string
    C0079399 (UMLS CUI [1,1])
    AGE
    Item
    Age-at-diagnosis/interview for case-control study and baseline age for cohort studies in 5 year interval
    string
    C1828181 (UMLS CUI [1,1])
    C0001779 (UMLS CUI [2,1])
    C0021822 (UMLS CUI [2,2])
    EAGLE_EV2
    Item
    Principal components for population stratification
    float
    C0429865 (UMLS CUI [1,1])
    C3258049 (UMLS CUI [1,2])
    PLCO_EV4
    Item
    Principal components for population stratification
    float
    C0429865 (UMLS CUI [1,1])
    C3258049 (UMLS CUI [1,2])
    PLCO_EV5
    Item
    Principal components for population stratification
    float
    C0429865 (UMLS CUI [1,1])
    C3258049 (UMLS CUI [1,2])
    ATBC_EV2
    Item
    Principal components for population stratification
    float
    C0429865 (UMLS CUI [1,1])
    C3258049 (UMLS CUI [1,2])

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