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

pht002218
Description

pht002218

De-identified subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Consent group as determined by DAC
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C1257890
UMLS CUI [1,2]
C0021430
Case control status of the subject [CASE, CONTROL]
Description

Affection Status

Data type

string

Alias
UMLS CUI [1,1]
C3274646

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
Type
Description | Question | Decode (Coded Value)
Data type
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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