Association of Transcription Factor Gene LMX1B with Autism
2011

Association of LMX1B Gene with Autism

Sample size: 252 publication Evidence: moderate

Author Information

Author(s): Thanseem Ismail, Nakamura Kazuhiko, Anitha Ayyappan, Suda Shiro, Yamada Kazuo, Iwayama Yoshimi, Toyota Tomoko, Tsujii Masatsugu, Iwata Yasuhide, Suzuki Katsuaki, Matsuzaki Hideo, Iwata Keiko, Sugiyama Toshiro, Yoshikawa Takeo, Mori Norio

Primary Institution: Hamamatsu University School of Medicine

Hypothesis

What is the role of the LMX1B gene in autism pathophysiology?

Conclusion

The study suggests a possible association of the LMX1B gene with autism, mediated through serotoninergic mechanisms.

Supporting Evidence

  • Two SNPs showed moderate association with autism with p-values of 0.018 and 0.022.
  • The haplotype AGCGTG showed significant association with autism (p=0.008).
  • LMX1B mRNA expression was significantly lower in the anterior cingulate gyrus of autism patients compared to controls (p=0.049).

Takeaway

Scientists studied a gene called LMX1B to see if it is linked to autism. They found some evidence that it might be important.

Methodology

A trio-based SNP association study was performed using 252 family samples, and LMX1B mRNA expressions were analyzed in postmortem brain tissues.

Limitations

The study's results should be interpreted with caution due to the modest associations and limited sample size of postmortem brain samples.

Participant Demographics

Caucasian families with male offspring diagnosed with autism.

Statistical Information

P-Value

0.018, 0.022, 0.008, 0.049

Confidence Interval

1.095–2.842, 1.076–2.841

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0023738

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