Association of Transcription Factor Gene LMX1B with Autism. Thanseem, I., Nakamura, K., Anitha, A., Suda, S., Yamada, K., Iwayama, Y., Toyota, T., Tsujii, M., Iwata, Y., Suzuki, K., Matsuzaki, H., Iwata, K., Sugiyama, T., Yoshikawa, T., & Mori, N. PLoS ONE, August, 2011. Paper doi abstract bibtex Multiple lines of evidence suggest a serotoninergic dysfunction in autism. The role of LMX1B in the development and maintenance of serotoninergic neurons is well known. In order to examine the role, if any, of LMX1B with autism pathophysiology, a trio-based SNP association study using 252 family samples from the AGRE was performed. Using pair-wise tagging method, 24 SNPs were selected from the HapMap data, based on their location and minor allele frequency. Two SNPs (rs10732392 and rs12336217) showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test. The haplotype AGCGTG also showed significant association (p = 0.008). Further, LMX1B mRNA expressions were studied in the postmortem brain tissues of autism subjects and healthy controls samples. LMX1B transcripts was found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p = 0.049). Our study suggests a possible role of LMX1B in the pathophysiology of autism. Based on previous reports, it is likely to be mediated through a seretoninergic mechanism. This is the first report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.
@article{thanseem_association_2011,
title = {Association of {Transcription} {Factor} {Gene} {LMX1B} with {Autism}},
volume = {6},
issn = {1932-6203},
url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3162001/},
doi = {10.1371/journal.pone.0023738},
abstract = {Multiple lines of evidence suggest a serotoninergic dysfunction in autism. The role of LMX1B in the development and maintenance of serotoninergic neurons is well known. In order to examine the role, if any, of LMX1B with autism pathophysiology, a trio-based SNP association study using 252 family samples from the AGRE was performed. Using pair-wise tagging method, 24 SNPs were selected from the HapMap data, based on their location and minor allele frequency. Two SNPs (rs10732392 and rs12336217) showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test. The haplotype AGCGTG also showed significant association (p = 0.008). Further, LMX1B mRNA expressions were studied in the postmortem brain tissues of autism subjects and healthy controls samples. LMX1B transcripts was found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p = 0.049). Our study suggests a possible role of LMX1B in the pathophysiology of autism. Based on previous reports, it is likely to be mediated through a seretoninergic mechanism. This is the first report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.},
number = {8},
urldate = {2021-05-19},
journal = {PLoS ONE},
author = {Thanseem, Ismail and Nakamura, Kazuhiko and Anitha, Ayyappan and Suda, Shiro and Yamada, Kazuo and Iwayama, Yoshimi and Toyota, Tomoko and Tsujii, Masatsugu and Iwata, Yasuhide and Suzuki, Katsuaki and Matsuzaki, Hideo and Iwata, Keiko and Sugiyama, Toshiro and Yoshikawa, Takeo and Mori, Norio},
month = aug,
year = {2011},
pmid = {21901133},
pmcid = {PMC3162001},
}
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Using pair-wise tagging method, 24 SNPs were selected from the HapMap data, based on their location and minor allele frequency. Two SNPs (rs10732392 and rs12336217) showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test. The haplotype AGCGTG also showed significant association (p = 0.008). Further, LMX1B mRNA expressions were studied in the postmortem brain tissues of autism subjects and healthy controls samples. LMX1B transcripts was found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p = 0.049). Our study suggests a possible role of LMX1B in the pathophysiology of autism. Based on previous reports, it is likely to be mediated through a seretoninergic mechanism. 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