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Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder
Yan Li1, Shuang Qiu1, Weijing Zhong2
1Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun, 130021, China.
Journal of Autism and Developmental Disorders
|March 8, 2020
Summary
Single nucleotide polymorphisms (SNPs) in the DCC gene were not directly linked to autism spectrum disorder (ASD) susceptibility. However, specific DCC gene haplotypes were found to be associated with ASD risk in a Chinese Han population.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
Background:
- Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition with complex genetic underpinnings.
- The role of the deleted in colorectal carcinoma (DCC) gene in ASD susceptibility is not well understood.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in the DCC gene and ASD susceptibility.
- To explore potential links between DCC gene haplotypes and ASD risk.
Main Methods:
- A case-control study was conducted with 231 ASD cases and 242 controls from the Chinese Han population.
- Seven specific SNPs within the DCC gene were genotyped and analyzed.
- Haplotype analysis was performed to assess combinations of SNPs.
Main Results:
- No significant association was found between individual DCC gene SNPs and ASD susceptibility.
- Several DCC gene haplotypes, including T-A, T-A-T-C, C-G-T-C-T, C-G-T-C-T-G, and G-G-T-C-C-C-C, showed a significant association with ASD susceptibility.
- These associated haplotypes involved specific SNP combinations like rs2229082-rs2270954 and rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044-rs16956878.
Conclusions:
- Individual SNPs in the DCC gene are unlikely to be major determinants of ASD susceptibility.
- Specific haplotypes within the DCC gene may play a role in the genetic etiology of autism spectrum disorder.
- Further research is warranted to elucidate the functional mechanisms by which DCC haplotypes influence ASD risk.
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