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, 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
Descripción

pht002220

De-identified subject ID
Descripción

SUBJID

Tipo de datos

string

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

STUDY

Tipo de datos

string

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

CASECONTROL

Tipo de datos

string

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

GENDER

Tipo de datos

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
Descripción

AGE

Tipo de datos

string

Unidades de medida
  • 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
Descripción

EAGLE_EV2

Tipo de datos

float

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

PLCO_EV4

Tipo de datos

float

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

PLCO_EV5

Tipo de datos

float

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

ATBC_EV2

Tipo de datos

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
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
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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