Olshan cegawrkshp 2

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Published on September 18, 2007

Author: Malbern

Source: authorstream.com

Head and Neck Cancer Study“CHANCE”:  Head and Neck Cancer Study 'CHANCE' Oral, pharynx, larynx cancer Priority--Gene-exposure interactions Tobacco, alcohol Phase I, Phase II, DNA repair gene polymorphisms (22 cSNPs) NC study, 46 counties 3,100 individuals (1,500 cases, 1,600 controls) In-person interview, blood or buccal, tumor blocks Interview= 297 major items, 1,017 total items (Stored in SAS) Standard case-control, haplotypes Access (andamp; Oracle) systems for subject and specimen tracking SAS/STATA and other software for analysis Centers for Birth Defects Research & Prevention:  Centers for Birth Defects Research andamp; Prevention National Birth Defects Prevention Study:  National Birth Defects Prevention Study Case-control study of major birth defects 10 US Centers Enrollment began with births on or after 10/1/97 NC funded 9/02. A. Olshan, PI Study Purpose:  Study Purpose Evaluate genetic and environmental factors associated with birth defects Test hypotheses regarding etiology - Suspected teratogens - Gene-environment interactions - Gene-gene interactions Study Population:  Study Population Case infants Identified from birth defects surveillance registries Liveborn, stillborn, or induced abortion Control infants Identified from vital records or birth hospitals No major birth defects Goal for each center: 300 cases and 100 controls per year Defects Included in NBDPS:  Defects Included in NBDPS Neural tube defects Holoprosencephaly Hydrocephalus Dandy-Walker malformation An/microphthalmia Cataracts/glaucoma Anotia, microtia Heart defects Choanal atresia Cleft lip Cleft palate Esophageal atresia/TE fistula Intestinal atresia/stenosis Biliary atresia Hypospadias, second/third degree Renal agenesis/hypoplasia Exstrophy, bladder/cloacal Limb deficiency Craniosynostosis Diaphragmatic hernia Sacral agenesis Omphalocele Gastroschisis Amnion rupture sequence National Birth Defects Prevention Study:  National Birth Defects Prevention Study Clinical database entry/review Maternal interview Buccal cell (DNA) collection NBDPS Computer Assisted Telephone Interview:  Maternal Interview Structured questionnaire in English or Spanish Standardized database Questions about pregnancy and medical histories, diet, lifestyle, occupational and environmental exposures, and medication use Incentives NBDPS Computer Assisted Telephone Interview NBDPS Biologics (DNA) Collection:  Kit mailed to family – includes brush for cheek cell collection Cheek cells collected from infant, mother, father DNA extracted andamp; quality control performed at each Center Portion of DNA banked at CASPIR Biologics database linked to clinical and interview data NBDPS Biologics (DNA) Collection How much data?:  How much data? 13,558 Cases andamp; 5019 Controls Interview dataset 118 major (exposure) questionnaire items 4,747 total data items in questionnaire CDC building genotype database About 100 cSNPs, plans for genome scan Informatics:  Informatics CDC developed Access system for clinical review, subject and specimen tracking system Interview database in Access converted to SAS Format for centralized genotype database undecided Major analyses in SAS and specialized software NC Research Proposal:  NC Research Proposal DNA Repair Gene Polymorphisms Neural tube defects, oral clefts, selected heart defects 11 cSNPs for 6 BER, NER, DSB repair genes htSNPs using EGP 1,500 repair gene snp chip? Case-control analyses- gene, gene X gene, G x E Logistic regression, Hierarchical regression Case-only, Trios

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