Genetic Factors Affecting Outcomes in Congenital Toxoplasmosis
Author Information
Author(s): Jamieson Sarra E., de Roubaix Lee-Anne, Cortina-Borja Mario, Tan Hooi Kuan, Mui Ernest J., Cordell Heather J., Kirisits Michael J., Miller E. Nancy, Peacock Christopher S., Hargrave Aubrey C., Coyne Jessica J., Boyer Kenneth, Bessieres Marie-Hélène, Buffolano Wilma, Ferret Nicole, Franck Jacqueline, Kieffer François, Meier Paul, Nowakowska Dorota E., Paul Malgorzata, Peyron François, Stray-Pedersen Babill, Prusa Andrea-Romana, Thulliez Philippe, Wallon Martine, Petersen Eskild, McLeod Rima, Gilbert Ruth E., Blackwell Jenefer M.
Primary Institution: University of Cambridge
Hypothesis
The study hypothesizes that genetic predisposition, specifically polymorphisms in the ABCA4 and COL2A1 genes, influences the clinical outcomes of congenital toxoplasmosis.
Conclusion
The study found that polymorphisms in the ABCA4 and COL2A1 genes are associated with clinical outcomes in congenital toxoplasmosis, providing insights into the molecular pathways affected by this infection.
Supporting Evidence
- Polymorphisms in ABCA4 were associated with both ocular and brain disease.
- Polymorphisms in COL2A1 were associated only with ocular disease.
- Unusual inheritance patterns were observed for the disease alleles.
- Evidence for imprinting effects was found in the analysis of maternal genotypes.
- Both ABCA4 and COL2A1 showed isoform-specific epigenetic modifications.
- Children with homozygous disease alleles had significantly higher odds of disease.
- Genetic associations were replicated in an independent cohort from North America.
- Ethnic background of participants was recorded to account for potential confounding.
Takeaway
This study shows that certain genes can affect how sick babies get from a parasite that can be passed from mothers to their babies during pregnancy.
Methodology
The study analyzed genetic data from 457 mother-child pairs in Europe and 149 child-parent trios in North America, focusing on polymorphisms in ABCA4 and COL2A1.
Potential Biases
There may be risks of bias due to the non-random selection of participants and potential confounding by ethnicity.
Limitations
The study's findings may be limited by the small sample sizes for certain analyses and the potential for unmeasured confounding factors.
Participant Demographics
The study included mother-child pairs from Europe and child-parent trios from North America, with a majority being Caucasian.
Statistical Information
P-Value
p<0.05
Confidence Interval
95% CI
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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