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ID

45448

Beschreibung

Principal Investigator: Chris Amos, PhD, Geisel School of Medicine, Dartmouth College, Lebanon, NH, USA MeSH: Lung Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000753 This research builds upon an extensive resource of a case-control study that has been ongoing at the UT MD Anderson Cancer Center since 1991. To identify risk variants for lung cancer, we conducted a genome-wide association study. Cases are newly diagnosed, histologically-confirmed patients presenting at MD Anderson Cancer and who had not previously received treatment other than surgery. Controls are healthy individuals seen for routine care at Kelsey-Seybold Clinics, the largest physician group-practice plan in the Houston Metropolitan area. This lung GWAS led to the identification of a susceptibility locus for lung cancer at 15q25.1. We used data from 315,450 tagging SNPs in 1,154 current and former (ever) smoking cases of European ancestry and 1,137 frequency-matched, ever-smoking controls from Houston, Texas in the discovery followed by the replication of the ten SNPs most significantly associated with lung cancer in an additional 711 cases and 632 controls from Texas and 2,013 cases and 3,062 controls from the UK. Two SNPs, rs1051730 and rs8034191, were significantly associated with risk of lung cancer with combined analysis yielded odds ratios of 1.32 (P 1X10-17) for both SNPs. These two SNPs mapped to a region of strong linkage disequilibrium within 15q25.1 containing PSMA4 and the nicotinic acetylcholine receptor subunit genes CHRNA3 and CHRNA5. (Nat Genet. 2008 May;40(5):616-22. PMID:18385676)

Link

dbGaP-study=phs000753

Stichworte

  1. 07.12.22 07.12.22 - Chiara Middel
Rechteinhaber

Chris Amos, PhD, Geisel School of Medicine, Dartmouth College, Lebanon, NH, USA

Hochgeladen am

7. Dezember 2022

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs000753 High Density SNP Association Analysis of Lung Cancer

    Sample ID, body site where sample was obtained, analyte type, and tumor status of samples obtained from participants with or without lung cancer and involved in the "High Density SNP Association Analysis of Lung Cancer" project.

    pht003877
    Beschreibung

    pht003877

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified sample ID
    Beschreibung

    SAMPID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected
    Beschreibung

    BODY_SITE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Analyte type
    Beschreibung

    ANALYTE_TYPE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status
    Beschreibung

    IS_TUMOR

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005

    Ähnliche Modelle

    Sample ID, body site where sample was obtained, analyte type, and tumor status of samples obtained from participants with or without lung cancer and involved in the "High Density SNP Association Analysis of Lung Cancer" project.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht003877
    C3846158 (UMLS CUI [1,1])
    SAMPID
    Item
    De-identified sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte type
    string
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is not a tumor (N)
    C0027651 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    CL Item
    Is Tumor (Y)
    C0027651 (UMLS CUI [1,1])

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