Exposure Enriched Case-Control (EECC) Design for the Assessment of Gene-Environment Interaction

被引:1
作者
Huque, Md Hamidul [1 ]
Carroll, Raymond J. [1 ,2 ]
Diao, Nancy [3 ]
Christiani, David C. [3 ]
Ryan, Louise M. [1 ,4 ]
机构
[1] Univ Technol Sydney, Sch Math & Phys Sci, Sydney, NSW, Australia
[2] Texas A&M Univ, Dept Stat, College Stn, TX 77843 USA
[3] Harvard Sch Publ Hlth, Dept Environm Hlth, Boston, MA USA
[4] Harvard Sch Publ Hlth, Dept Biostat, Boston, MA USA
关键词
Arsenic exposure; case-control; gene-environment; logistic regression; power; COVARIATE MEASUREMENT ERROR; SAMPLE-SIZE CALCULATIONS; LOGISTIC-REGRESSION; SKIN-LESIONS; MISCLASSIFICATION; IMPACT; POWER; ASSOCIATION; BANGLADESH; EFFICIENCY;
D O I
10.1002/gepi.21986
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genetic susceptibility and environmental exposure both play an important role in the aetiology of many diseases. Case-control studies are often the first choice to explore the joint influence of genetic and environmental factors on the risk of developing a rare disease. In practice, however, such studies may have limited power, especially when susceptibility genes are rare and exposure distributions are highly skewed. We propose a variant of the classical case-control study, the exposure enriched case-control (EECC) design, where not only cases, but also high (or low) exposed individuals are oversampled, depending on the skewness of the exposure distribution. Of course, a traditional logistic regression model is no longer valid and results in biased parameter estimation. We show that addition of a simple covariate to the regression model removes this bias and yields reliable estimates of main and interaction effects of interest. We also discuss optimal design, showing that judicious oversampling of high/low exposed individuals can boost study power considerably. We illustrate our results using data from a study involving arsenic exposure and detoxification genes in Bangladesh.
引用
收藏
页码:570 / 578
页数:9
相关论文
共 50 条
[21]   Is the matched extreme case-control design more powerful than the nested case-control design? [J].
Stoer, N. C. ;
Salim, A. ;
Bokenberger, K. ;
Karlsson, I. ;
Reilly, M. .
STATISTICAL METHODS IN MEDICAL RESEARCH, 2019, 28 (06) :1911-1923
[22]   Gene-Environment Interaction of ApoE Genotype and Combat Exposure on PTSD [J].
Lyons, Michael J. ;
Genderson, Margo ;
Grant, Michael D. ;
Logue, Mark ;
Zink, Tyler ;
McKenzie, Ruth ;
Franz, Carol E. ;
Panizzon, Matthew ;
Lohr, James B. ;
Jerskey, Beth ;
Kremen, William S. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2013, 162 (07) :762-769
[23]   Tests for Gene-Environment Interactions and Joint Effects With Exposure Misclassification [J].
Boonstra, Philip S. ;
Mukherjee, Bhramar ;
Gruber, Stephen B. ;
Ahn, Jaeil ;
Schmit, Stephanie L. ;
Chatterjee, Nilanjan .
AMERICAN JOURNAL OF EPIDEMIOLOGY, 2016, 183 (03) :237-247
[24]   K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt [J].
Roesler, Thomas W. ;
Salama, Mohamed ;
Shalash, Ali S. ;
Khedr, Eman M. ;
El-Tantawy, Abdelhalim ;
Fawi, Gharib ;
El-Motayam, Amal ;
El-Seidy, Ehab ;
El-Sherif, Mohamed ;
El-Gamal, Mohamed ;
Moharram, Mohamed ;
El-Kattan, Mohammad ;
Abdel-Naby, Muhammad ;
Ashour, Samia ;
Mueller, Ulrich ;
Dempfle, Astrid ;
Kuhlenbaeumer, Gregor ;
Hoeglinger, Guenter U. .
SCIENTIFIC REPORTS, 2018, 8
[25]   Gene-environment interaction in dyslipidemia [J].
Cole, Christopher B. ;
Nikpay, Majid ;
McPherson, Ruth .
CURRENT OPINION IN LIPIDOLOGY, 2015, 26 (02) :133-138
[26]   Environmental Confounding in Gene-Environment Interaction Studies [J].
VanderWeele, Tyler J. ;
Ko, Yi-An ;
Mukherjee, Bhramar .
AMERICAN JOURNAL OF EPIDEMIOLOGY, 2013, 178 (01) :144-152
[27]   Gene x environment interaction from case-control and case-case approaches [J].
Bai, Y ;
Goldin, LR ;
Goldstein, AM .
GENETIC EPIDEMIOLOGY, 2001, 21 :S825-S830
[28]   Gene-environment interaction and maternal arsenic methylation efficiency during pregnancy [J].
Gao, Shangzhi ;
Mostofa, Md Golam ;
Quamruzzaman, Quazi ;
Rahman, Mahmudur ;
Rahman, Mohammad ;
Su, Li ;
Hsueh, Yu-mei ;
Weisskopf, Marc ;
Coull, Brent ;
Christiani, David C. .
ENVIRONMENT INTERNATIONAL, 2019, 125 :43-50
[29]   Investigation of a candidate gene, environment, and GxE interaction using case-control and case-parent study designs [J].
Norris, JM ;
Selinger-Leneman, H ;
Génin, E .
GENETIC EPIDEMIOLOGY, 2001, 21 :S843-S848
[30]   Gene-environment interaction and children's health and development [J].
Wright, Robert O. ;
Christiani, David .
CURRENT OPINION IN PEDIATRICS, 2010, 22 (02) :197-201