Detection of genotype-environment interaction in case-control studies of birth defects: How big a sample size?

Teratology ◽  
1995 ◽  
Vol 51 (5) ◽  
pp. 336-343 ◽  
Author(s):  
Muin J. Khoury ◽  
Terri H. Beaty ◽  
Shih-Jen Hwang
Keyword(s):  
Sample Size ◽  
Birth Defects ◽  
Case Control ◽  
Environment Interaction ◽  
Case Control Studies ◽  
Genotype Environment Interaction

scholarly journals Power and sample size for multivariate logistic modeling of unmatched case-control studies

2017 ◽  
Vol 28 (3) ◽  
pp. 822-834
Author(s):  
Mitchell H Gail ◽  
Sebastien Haneuse
Keyword(s):  
Logistic Regression ◽  
Sample Size ◽  
Case Control ◽  
Simulation Methods ◽  
Case Control Studies ◽  
Control Data ◽  
Logistic Analysis ◽  
Sample Size Calculations ◽  
Control Designs ◽  
Univariate Analyses

Sample size calculations are needed to design and assess the feasibility of case-control studies. Although such calculations are readily available for simple case-control designs and univariate analyses, there is limited theory and software for multivariate unconditional logistic analysis of case-control data. Here we outline the theory needed to detect scalar exposure effects or scalar interactions while controlling for other covariates in logistic regression. Both analytical and simulation methods are presented, together with links to the corresponding software.

Testing for Interaction between Maternal Smoking and TGFA Genotype among Oral Cleft Cases Born in Maryland 1992–1996

1997 ◽  
Vol 34 (5) ◽  
pp. 447-454 ◽  
Author(s):  
Terri H. Beaty ◽  
Nancy E. Maestri ◽  
Jacqueline B. Hetmanski ◽  
Diego F. Wyszynski ◽  
Craig A. Vanderkolk ◽  
...  
Keyword(s):  
Birth Defects ◽  
Maternal Smoking ◽  
Case Control Study ◽  
Case Control ◽  
Comprehensive Treatment ◽  
Environment Interaction ◽  
Oral Clefts ◽  
Oral Cleft ◽  
Increased Risk ◽  
Control Study

Objective: Infants born in Maryland between June 1992 and June 1996 were used in a case-control study of nonsyndromic oral clefts to test for effects of maternal smoking and a polymorphic genetic marker at the transforming growth factor alpha (TGFA) locus, both of which have been reported to be risk factors for these common birth defects. Design and Setting: Cases were infants with an oral cleft ascertained through three comprehensive treatment centers, with additional ascertainment through a registry of birth defects maintained by the Maryland Health Department. Controls were healthy infants. Medical history information on infants and mothers were collected, along with DNA samples Patients, Participants: Among 286 cases contacted (72% ascertainment), there were 192 nonsyndromic isolated oral clefts (106 M; 86 F) available for this case-control study. Main Outcome Measures: The largest group of 149 Caucasian nonsyndromic cases and 86 controls was used to test for association with maternal smoking and genotype at the Taq1 polymorphism in TGFA. Results: While this modest sample had limited statistical power to detect gene-environment interaction, there was a significant marginal Increase In risk of having an oral cleft If the mother smoked (odds ratio = 1.75, 95%CI = 1.01 to 3.02). We could not demonstrate statistical interaction between maternal smoking and TGFA genotype in this study, however, and the observed increase in the C2 allele among cases was not statistically significant. Conclusions: We could not confirm either the reported association between oral clefts and TGFA genotype or its interaction with maternal smoking. However, these data do show an increased risk if the mother smoked during pregnancy, and this effect was greatest among infants with a bilateral cleft and no close family history of clefts.

scholarly journals Case-Control Studies of Gene-Environment Interaction: Bayesian Design and Analysis

Biometrics ◽  
2009 ◽  
Vol 66 (3) ◽  
pp. 934-948 ◽  
Author(s):  
Bhramar Mukherjee ◽  
Jaeil Ahn ◽  
Stephen B. Gruber ◽  
Malay Ghosh ◽  
Nilanjan Chatterjee
Keyword(s):  
Case Control ◽  
Environment Interaction ◽  
Case Control Studies ◽  
Bayesian Design ◽  
Gene Environment Interaction ◽  
Gene Environment

Selection of controls in case-control studies on maternal medication use and risk of birth defects

2007 ◽  
Vol 79 (9) ◽  
pp. 652-656 ◽  
Author(s):  
Marian K. Bakker ◽  
Hermien E.K. de Walle ◽  
Aileen Dequito ◽  
Paul B. van den Berg ◽  
Lolkje T.W. de Jong-van den Berg
Keyword(s):  
Birth Defects ◽  
Medication Use ◽  
Case Control ◽  
Case Control Studies ◽  
Maternal Medication ◽  
Selection Of
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