Association of LMX1B Gene with Autism
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)
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