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Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population
Abdul Fuad Hadi1, Reza K Arta1, Itaru Kushima2,3
1Department of Psychiatry, School of Medicine, and Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Neuropsychopharmacology Reports
|January 31, 2025
Summary
This study found no evidence that rare Contactin-5 (CNTN5) gene variants contribute to autism spectrum disorder (ASD) in the Japanese population. Further research is needed to understand the genetic causes of ASD.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Contactin-5 (CNTN5) is a neural adhesion molecule implicated in synaptogenesis and auditory pathway development.
- CNTN5 has been linked to autism spectrum disorder (ASD) pathophysiology, particularly hyperacusis.
- Investigating rare CNTN5 variants is crucial for understanding ASD genetic susceptibility.
Purpose of the Study:
- To investigate the role of rare Contactin-5 (CNTN5) variants in autism spectrum disorder (ASD) susceptibility.
- To analyze CNTN5 variants in a Japanese population for association with ASD.
- To examine clinical data of patients carrying prioritized CNTN5 variants.
Main Methods:
- Resequencing of CNTN5 coding regions in 302 ASD patients to identify rare, putatively damaging variants.
- Genotyping of prioritized variants in 313 ASD patients and 1065 controls.
- Association study of selected variants with ASD in 614 ASD patients and 61,057 controls.
Main Results:
- Three rare, putatively damaging missense variants (W69G, I227L, L1000S) were prioritized in ASD patients.
- A nominally significant association between the I227L variant and ASD was observed but not sustained after correction.
- Hyperacusis was present in three of nine patients carrying prioritized variants.
Conclusions:
- This study found no evidence supporting the contribution of rare CNTN5 variants to the genetic etiology of ASD in the Japanese population.
- The findings suggest that rare CNTN5 variants are unlikely to be major contributors to ASD risk in this cohort.
- Further research may be needed to explore other genetic factors or different populations.
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