Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium.
CNTNAP2 DNA variants do not predict autism in Chinese or global samples.
01Research in Context
What this study did
Zhang et al. (2019) looked at the CNTNAP2 gene in Chinese Han families. They asked if any small DNA changes raise autism risk.
The team ran two tests. First they checked 300 family trios. Then they pooled all past data in a fresh meta-analysis.
What they found
No CNTNAP2 variant was linked to autism in either test. Odds ratios hovered near 1.0 and every p-value missed the mark.
The updated meta-analysis covered thousands of families. The answer stayed the same: no reliable signal.
How this fits with other research
Torrico et al. (2017) saw the same null story three years earlier. They tested three earlier GWAS "hits" in Europeans and found nothing.
Zhang et al. (2019) used a wider genome scan and still saw weak, scattered peaks. Their cell-adhesion and potassium-channel hints line up with CNTNAP2's job, yet the gene itself did not stand out.
Saghazadeh et al. (2017) shifted from genes to blood. Their meta found a small bump in BDNF protein, showing that modest biomarker shifts can survive meta-analysis while CNTNAP2 could not.
Why it matters
You can stop ordering single-gene CNTNAP2 tests for autism risk. The data say it will not change your clinical picture. Spend the time on skill-based assessment and behavior plans instead.
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02At a glance
03Original abstract
Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019, 12: 553-561. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In present family-based association study, no single-nucleotide polymorphisms (SNPs) were significantly associated with autism in the Chinese Han population. In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. However, the results showed no significant association. Therefore, our study suggested that CNTNAP2 polymorphisms might not be associated with autism.
Autism research : official journal of the International Society for Autism Research, 2019 · doi:10.1002/aur.2078