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Genetic Factors

Published: 2023
SYNOPSIS

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut–brain axis (GBA) has been implicated in ASD although with limited reproducibility across studies.

TITLE

Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles

J. T. Morton, D. Jin, R. H. Mills, Y. Shao, G. Rahman, D. McDonald, Q. Zhu, M. Balaban, Y. Jiang, K. Cantrell, A. Gonzalez, J. Carmel, L. Frankiensztajn, S. Martin-Brevet, K. Berding, B. Needham, M. Fernanda Zurita, M. David, O. V. Averina, A. Kovtun, A. Noto, M. Mussap, M. Wang, D. N. Frank, G. Taroncher-Oldenburg

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut–brain axis (GBA) has been implicated in ASD although with limited reproducibility across studies. In this study, we developed a Bayesian differential ranking algorithm to identify ASD-associated molecular and taxa profiles across 10 cross-sectional microbiome datasets and 15 other datasets, including dietary patterns, metabolomics, cytokine profiles and human brain gene expression profiles. We found a functional architecture along the GBA that correlates with heterogeneity of ASD phenotypes, and it is characterized by ASD-associated amino acid, carbohydrate and lipid profiles predominantly encoded by microbial species in the genera PrevotellaBifidobacteriumDesulfovibrio and Bacteroides and correlates with brain gene expression changes, restrictive dietary patterns and pro-inflammatory cytokine profiles. The functional architecture revealed in age-matched and sex-matched cohorts is not present in sibling-matched cohorts. We also show a strong association between temporal changes in microbiome composition and ASD phenotypes. In summary, we propose a framework to leverage multi-omic datasets from well-defined cohorts and investigate how the GBA influences ASD.

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Published: 2014
SYNOPSIS

Genetic and environmental factors can interact to trigger vaccine adverse events, but researchers’ understanding of genetic susceptibility is still limited.

TITLE

The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events

CITATION

Lin Y, He Y. The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events. J Biomed Semantics 2014;5:19.

 

SUMMARY

Vaccination can trigger adverse events in population subgroups with genetic susceptibility, often in interaction with environmental factors. These authors argue for the need for a “consensus-based robust…framework for systematically representing and studying…genetic susceptibility and the genetic factors contributing to the susceptibility.”

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Published: 2008
SYNOPSIS

Three gene variations are associated with adverse reactions to smallpox vaccination.  

TITLE

Genetic Basis for Adverse Events Following Smallpox Vaccination

CITATION

Reif DM, McKinney BA, Motsinger AA, Chanock SJ, Edwards KM, Rock MT, Moore JH, Crowe Jr. JE. Genetic basis for adverse events following smallpox vaccination. The Journal of Infectious Diseases. 2008;198(1):16-22.

SUMMARY

A pair of NIH-funded studies identified three genetic variations that make people more susceptible to systemic adverse events following smallpox vaccination. By studying the smallpox vaccine, the researchers focused on a vaccine historically noted for frequently causing adverse reactions in population-wide vaccination programs. In the two studies, 16/96 and 24/46 individuals experienced systemic adverse events after vaccination, and three candidate genes (MTHFR, IRF1 and IL4) had the strongest association with the adverse events. In susceptible individuals, “vaccination appears to trigger an acute inflammatory response that is excessive.”

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