Assessment & Research

Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder.

Li et al. (2020) · Journal of autism and developmental disorders 2020
★ The Verdict

Certain DCC gene haplotypes may flag elevated ASD risk in Chinese Han children, but not yet ready for clinical use.

✓ Read this if BCBAs who help families understand genetic test results or work with Chinese Han children.
✗ Skip if Clinicians only interested in ready-to-use genetic screens.

01Research in Context

01

What this study did

Ke et al. (2020) looked at the DCC gene in Chinese Han children. They wanted to know if tiny DNA changes raise autism risk.

They checked single-letter DNA swaps and also longer five-swap patterns called haplotypes.

02

What they found

Single DNA swaps in DCC showed no link to autism.

Five longer haplotype patterns did show a clear link to higher autism risk.

03

How this fits with other research

Pu et al. (2013) pooled eight older studies and found the MTHFR gene also nudges autism risk up. Like Yan, they saw risk rise only when several swaps line up, not one alone.

Goodrich et al. (2019) tied a PAC1R gene pattern to worse social scores in kids who already have autism. Yan’s work is earlier: it flags who might get autism, while Meredith shows how tough symptoms can be once autism is present.

Al-Mamari et al. (2015) used big-picture chromosome scans and found a cause in one of every four autism cases. Yan used a narrow gene hunt, so the two methods sit side-by-side: broad scan versus deep dive.

04

Why it matters

Right now you cannot order a DCC haplotype test and get a yes-or-no answer. Still, the study reminds us that autism risk is often a team of small gene quirks, not one bad actor. When you talk with families about genetic testing, you can explain why single-gene results may come back normal yet risk still exists. Keep watching future work; if larger studies repeat the finding, DCC patterns might join the list of useful red flags.

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Tell parents that normal single-gene reports don’t always rule out risk; multiple small changes can still add up.

02At a glance

Intervention
not applicable
Design
other
Sample size
473
Population
autism spectrum disorder
Finding
positive

03Original abstract

Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in DCC on the basis of a case-control study (231 ASD cases and 242 controls) in Chinese Han. We found that there was no association between ASD susceptibility and the seven SNPs in DCC; however, T-A haplotype (rs2229082-rs2270954), T-A-T-C haplotype (rs2229082-rs2270954-rs2292043-rs2292044), C-G-T-C-T haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043), C-G-T-C-T-G haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044), and G-G-T-C-C-C-C haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044-rs16956878) were associated with ASD susceptibility. Our results indicate that the haplotypes formed on the basis of the seven SNPs in DCC may be implicated in ASD.

Journal of autism and developmental disorders, 2020 · doi:10.1007/s10803-020-04417-3