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Published on: October 24, 2019
Studying genetic predisposition among small-for-gestational-age newborns.
1Department of Epidemiology, Biostatistics and Occupational Health, Faculty of Medicine, McGill University, Montréal, Québec, Canada. claire.infante-rivard@mcgill.ca
Genetic association studies for small-for-gestational-age (SGA) outcomes primarily focus on thrombophilia and xenobiotic pathways. Critiques highlight methodological issues and suggest alternative designs to address biases in SGA research.
Area of Science:
- Genetics
- Obstetrics
- Perinatal Epidemiology
Background:
- Small-for-gestational-age (SGA) is a significant adverse pregnancy outcome.
- Genetic association studies are crucial for understanding SGA etiology.
- Existing research has limitations in scope and methodology.
Purpose of the Study:
- To provide a summary overview of genetic association studies concerning SGA outcomes.
- To critique common methodologies and identify research gaps.
- To discuss alternative study designs and under-explored genetic effects.
Main Methods:
- Review and critique of published genetic association studies on SGA.
- Analysis of commonly investigated genetic pathways (thrombophilia, xenobiotic metabolism).
- Discussion of study designs (case-control, case-parental trios) and biases (population stratification).
Main Results:
- Thrombophilia and xenobiotic-metabolizing pathways are the most frequently studied genetic factors in SGA.
- Most studies employ case-control designs with maternal genotype analysis.
- Significant methodological limitations, including control selection and population stratification bias, are prevalent.
Conclusions:
- Current genetic association studies for SGA are limited in scope and methodology.
- Alternative designs like case-parental trios can mitigate population structure bias.
- Maternally mediated and parent-of-origin effects require further investigation for SGA outcomes.
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