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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
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Genome-Wide Association Analyses in Family Triads and Dyads Following Assisted Reproductive Technology.

Siri N Skodvin1,2, Håkon K Gjessing1,2, Astanand Jugessur1,2

  • 1Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.

Genetic Epidemiology
|June 3, 2025
PubMed
Summary

Assisted reproductive technology (ART) may influence fetal survival. This study identified specific genes affecting fetal viability in ART offspring, suggesting these genes play a role in successful conception and birth.

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Published on: February 23, 2011

Area of Science:

  • Reproductive genetics
  • Human genetics
  • Developmental biology

Background:

  • Couple's genetic makeup can influence fertility and the need for assisted reproductive technology (ART).
  • Recurrent early fetal losses may be misinterpreted as reduced fertility, contributing to ART utilization.
  • ART may improve early fetal survival, potentially altering allele distributions in ART offspring.

Purpose of the Study:

  • To investigate the influence of genetic factors on fetal survival in offspring conceived via ART.
  • To identify specific genes affecting fetal viability and their allele frequencies in ART-conceived individuals.
  • To differentiate genetic effects on fetal survival from pre-fertilization genetic selection.

Main Methods:

  • Utilized genetic data from the Norwegian Mother, Father, and Child Cohort Study.
  • Analyzed 1336 case-parent triads and dyads conceived by ART, with fetal survival as the outcome.
  • Employed log-linear models and genome-wide scans using the R package Haplin to estimate genetic effects.

Main Results:

  • Detected significant fetal effects for single-nucleotide polymorphisms (SNPs) in CXXC4-AS1, OPCML, and DYNLRB2-AS1.
  • These identified genetic effects on fetal survival were specific to ART-conceived offspring.
  • No similar effects were observed in a control group of non-ART conceived individuals.

Conclusions:

  • Specific genes (CXXC4-AS1, OPCML, DYNLRB2-AS1) influence fetal viability in ART-conceived pregnancies.
  • The observed genetic effects are likely related to post-fertilization events, not pre-fertilization genetic selection.
  • Findings contribute to understanding the genetic basis of successful conception and fetal development in the context of ART.