Genetic Epidemiology of Lung Cancer Consortium GWAS of Familial Lung Cancer

Familial lung cancer cases were collected by the Genetic Epidemiology of Lung Cancer Consortium (GELCC) recruitment sites: University of Cincinnati, Karmanos Cancer Institute at Wayne State University, Louisiana State University Health Sciences Center-New Orleans, Mayo Clinic, and Medical College of Ohio. Familial cases for this study came from three sources: 1) one case each from families (at least 3 affected lung cancer cases in the family) included in the linkage analysis; 2) one case from linkage-eligible families (at least 3 affected lung cancer cases in the family) but where there were insufficient biospecimens available to make them informative for linkage analysis; and 3) one case from families not eligible for the linkage study with a family history of at least one first or second degree relative affected with lung cancer. Unrelated controls were selected from 1) among the spouses of family members, thus matching on socio-economic status (SES) and ethnicity (typically) of the cases or 2) from case-control studies of lung cancer conducted in the same location in which the linkage families were collected and matched on age, sex, and race. All cases and controls self-reported as European American. Biospecimens used for normal DNA extraction included blood, saliva or mouthwash. Some samples underwent whole genome amplication.

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 1553
• Subject Sample Telemetry Report (SSTR)

All cases must have had a lung cancer diagnosis and have at least one first or second degree relative with a lung cancer diagnosis. These cases must have provided a biospecimen suitable for the extraction of germline DNA. Controls were not related to cases and were drawn from the same geographic locations as the cases. All cases and controls were European American.

The GELCC was designed as a family-based linkage study. We have enrolled over 1,000 families with familial lung cancer. Of these families, 131 highly aggregated lung cancer families have adequate biospecimens available to use for linkage studies. Of this group of linkage families, 93 have been genotyped by the Center for Inherited Diseases Research (CIDR) using 388 microsatellite markers. The 6q susceptibility locus was genotyped with additional microsatellite markers resulting in reduction of the size of the susceptibility region from 20cm to approximately 3cm (2.2 Mb). 113 families have been genotyped by CIDR using a SNP linkage panel of 6600 SNP markers, including the 93 families previously genotyped with microsatellite markers and 20 new families. Additional families will be genotyped by CIDR in the coming year using the 6600 SNP panel. This resource serves as the base for the familial lung cancer GWAS.

• Primary Phenotype: Lung Neoplasms

• BioProject
• PubMed
• BioSample
• MeSH
• PMC

• Principal Investigator
  • Ann G. Schwartz, PhD, MPH. Karmanos Cancer Institute, Wayne State University, Detroit, MI, USA.
• Funding Source
  • U01CA76293. National Institutes of Health, Bethesda, MD, USA.
• Genotyping Center
  • Center for Inherited Disease Research (CIDR). Johns Hopkins University, Baltimore, MD, USA.
• Funding Source for CIDR Genotyping
  • HHSN268201100011I. NIH contract "High throughput genotyping for studying the genetic contributions to human disease". National Institutes of Health, Bethesda, MD, USA.