A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort
2011

Common Variants in Neuroligin Genes and Autism in Chinese Males

Sample size: 413 publication 10 minutes Evidence: moderate

Author Information

Author(s): Yu Jindan, He Xue, Yao Dan, Li Zhongyue, Li Hui, Zhao Zhengyan

Primary Institution: Children's Hospital, Zhejiang University School of Medicine

Hypothesis

Are common variants in the NLGN3 and NLGN4X genes associated with autism spectrum disorders in a Chinese Han cohort?

Conclusion

A common variant in the NLGN3 gene may contribute to autism spectrum disorders among affected males in the Chinese Han population.

Supporting Evidence

  • A common variant in the NLGN3 gene was significantly associated with autism in males.
  • None of the known rare variants in NLGN3 and NLGN4X were found in the study population.
  • The study used a case-control design to analyze genetic variants.

Takeaway

The study found that a specific gene variant is linked to autism in boys, suggesting that genes play a role in this condition.

Methodology

229 autism cases and 184 controls were genotyped for SNPs using MALDI-TOF mass spectrometry.

Potential Biases

Potential bias due to the small number of female participants and the focus on a specific ethnic group.

Limitations

The study may not cover all common variants and the sample size for females was small.

Participant Demographics

Mean age of cases was 5.5 years, with 83.4% males and 16.6% females.

Statistical Information

P-Value

0.048

Confidence Interval

1.175-2.981

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1744-9081-7-13

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