Neurexin gene family variants as risk factors for autism spectrum disorder.
In Chinese kids, tiny neurexin gene variants tip autism risk up or down — useful facts for genetic counseling talks.
01Research in Context
What this study did
Wang et al. (2018) looked at DNA from Chinese children with and without autism. They focused on three genes that help brain cells talk: NRXN1, NRXN2, and NRXN3.
The team used a case-control design. They compared gene variants in kids diagnosed with ASD to same-age peers without ASD.
What they found
Two tiny spelling changes stood out. One variant in NRXN2 raised autism risk. A different variant in NRXN3 lowered risk.
The findings were strong enough to survive math checks for false positives.
How this fits with other research
Liu et al. (2016) ran a wider East-Asian GWAS and also flagged new autism genes. Jia narrows the hunt to the neurexin family and still finds signals, showing the bigger scan was on the right track.
Xia et al. (2020) scanned the whole genome in Han Chinese trios but found no single marker that met the strict genome-wide cutoff. Jia’s focused look at just three genes caught what the wide scan missed — a classic case of zooming in to boost power.
Kumazaki et al. (2018) linked estrogen-receptor variants to how severe social symptoms are, while Jia links neurexin variants to whether a child has ASD at all. Together they remind us that different genes shape different parts of the autism picture.
Why it matters
You can’t change genes, but you can use this info when families ask about heritability. Tell them researchers keep finding Chinese-specific risk markers, which makes global risk panels more complete. Keep the message simple: some genes nudge risk up, others down, and none act alone.
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02At a glance
03Original abstract
UNLABELLED: Increasing evidence suggests that abnormal synaptic function leads to neuronal developmental disorders and is an important component of the etiology of autism spectrum disorder (ASD). Neurexins are presynaptic cell-adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals. Thus, neurexins are attractive candidate genes for autism. Since gene families have greater power to reveal genetic association than single genes, we designed this case-control study to investigate six genetic variants in three neurexin genes (NRXN1, NRXN2, and NRXN3) in a Chinese population including 529 ASD patients and 1,923 healthy controls. We found that two SNPs were significantly associated with ASD after false discovery rate (FDR) adjustment for multiple comparisons. The NRXN2 rs12273892 polymorphism T allele and AT genotype were significantly associated with increased risk of ASD (respectively: OR = 1.328, 95% CI = 1.133-1.557, P < 0.001; OR = 1.528; 95% CI = 1.249-1.868, P < 0.001). The dominant model showed the same association (OR = 1.495, 95% CI = 1.231-1.816, P < 0.001). The NRXN3 rs12879016 polymorphism played a significant role in ASD susceptibility under the dominant model (OR = 0.747, 95% CI= 0.615-0.908, P = 0.023), with the same trend detected for the G allele and GT genotype (respectively: OR = 0.811, 95% CI = 0.699-0.941, P = 0.036; OR = 0.755, 95% CI = 0.615-0.928, P = 0.035). In conclusion, this study supports the importance of two genetic variants in the neurexin gene family in ASD susceptibility in China. Autism Res 2018, 11: 37-43. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is highly heritable, and studies have found a number of candidate genes that might contribute to ASD. Neurexins are presynaptic cell-adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals, and they play an important role in normal brain development and become candidate genes for autism. The purpose of our study is to explore the association between variants of the neurexins gene family and ASD in a Chinese population through a case-control study.
Autism research : official journal of the International Society for Autism Research, 2018 · doi:10.1002/aur.1881