The Role of MAOA Gene in the Etiology of Autism Spectrum Disorder in Males

Monoamine oxidase A gene (MAOA) is suggested to
be a candidate gene implicated in many neuropsychiatric disorders,
including autism spectrum disorder (ASD). This meta-analytic review
evaluates the relationship between ASD and MAOA markers such as
30 bp variable number tandem repeats in the promoter region
(uVNTR) and single nucleotide polymorphisms (SNPs) by using
findings from recently published studies. It seems that in Caucasian
males, the risk of developing ASD increase with the presence of 4-
repeat allele in the promoter region of MAOA gene whereas no
differences were found between autistic patients and controls in
Egyptian, West Bengal and Korean population. Some studies point to
the importance of specific haplotype groups of SNPs and interaction
of MAOA with others genes (e. g. FOXP2 or SRY). The results of
existing studies are insufficient and further research is needed.





References:
[1] American Psychiatric Association, Diagnostic and Statistical Manual of
Mental Disorders: DSM-IV-TR, Arlington, VA: American Psychiatric
Publishing, 2000.
[2] S. Chakrabarti, and E. Fombonne, “Pervasive developmental disorders
in preschool children: confirmation of high prevalence,” Am. J.
Psychiatry, vol. 162, no. 6, pp. 1133–1141, Jun. 2005.
[3] R. J. Landa, K.. C. Holman and E. Garrett-Mayer, “Social and
communication development in toddlers with early and later diagnosis of
autism spectrum disorders,” Arch. Gen. Psychiatry, vol. 64, no. 7, pp.
853–864, Jul. 2007.
[4] C. A. Pardo, and C. G. Eberhart, “The neurobiology of autism,” Brain.
Pathol., vol. 17, no. 4, pp. 434–47, Oct. 2007.
[5] J. M. Berg, and D. H. Geschwind, “Autism genetics: searching for
specificity and convergence,” Genome Biol., vol. 13, no. 7, pp. 247, Jul.
2012. [6] K. S. Lam, M. G. Aman, and L. E. Arnold, “Neurochemical correlates of
autistic disorder: A review of the literature,” Res. Dev. Disabil., vol. 27,
no. 3, pp. 254–289, May-Jun. 2006.
[7] S. Z. Sabol, S. Hu, and D. Hamer, “A functional polymorphism in the
monoamine oxidase A gene promoter,” Hum. Genet., vol. 103, no. 3, pp.
273–279, Sep. 1998.
[8] J. Samochowiec, A. Hajduk, A. Samochowiec, J. Horodnicki, G.
Stepien, A. Grzywacz, et al., “Association studies of MAO-A, COMT,
and 5-HTT genes polymorphisms in patients with anxiety disorders of
the phobic spectrum,” Psychiatry Res., vol. 128, no. 1, pp. 21–26, Aug.
2004.
[9] L. Passamonti, F. Fera, A. Margariello, A. Cerasa, M. C. Gioia, M.
Muglia, et al., “Monoamine oxidase-A genetic variations influence brain
activity associated with inhibitory control: New insight into the neural
correlates of impulsivity,” Biol. Psychiatry, vol. 59, no. 4, pp. 334–340,
Feb. 2006.
[10] T. Banaschewski, K. Becker, S. Scherag, B. Franke, and D. Coghill,
“Molecular genetics of attention-deficit/hyperactivity disorder: an
overview,” Eur. Child. Adolesc. Psychiatry, vol. 19, no. 3, pp. 237–257,
Mar. 2010.
[11] I. L. Cohen, X. Liu, M. E. S. Lewis, A. Chudley, C. Forster-Gibson, M.
Gonzalez, et al., “Autism severity is associated with child and maternal
MAOA genotypes,” Clin. Genet., vol. 79, no. 4, pp. 355–362, Apr. 2011.
[12] F. Tassone, L. Qi, W. Zhang, R. L Hansen, I. N Pessah, and I. Hertz-
Picciotto, “MAOA, DBH and SLC6A4 variants in CHARGE: A case
control study of autism spectrum disorders,” Autism. Res., vol. 4, no. 4,
pp. 250–261, Aug. 2011.
[13] J. Roohi, C. J. DeVincent, E. Hatchwell, and K. D. Gadow, “Association
of a monoamine oxidase-A gene promoter polymorphism with ADHD
and anxiety in boys with autism spectrum disorder,” J. Autism. Dev.
Disord., vol. 39, no. 1, pp. 67–74, Jan. 2009.
[14] D. Hranilović, R. Novak, M. Babić, M. Novokmet, Z. Bujas-Petković
and B. Jernej, “Hyperserotonemia in autism: The potential role of 5HTrelated
gene variants,” Coll. Antropol., vol. 32, Suppl. 1, pp. 75–80, Jan.
2008.
[15] L. K. Davis, H. C. Hazlett, A. L. Librant, P. Nopoulos, V. C. Sheffield,
J. Piven, et al., “Cortical enlargement in autism is associated with a
functional VNTR in the monoamine oxidase A gene,” Am. J. Med.
Genet. B Neuropsychiatr. Genet., vol. 147B, no. 7, pp.1145–1151, Oct.
2008.
[16] D. Verma, B. Chakraborti, A. Karmakar, T. Bandyopadhyay, A. S.
Singh, S. Sinha, et al., “Sexual dimorphic effect in the genetic
association of monoamine oxidase A (MAOA) markers with autism
spectrum disorder,” Prog. Neuropsychopharmacol. Biol. Psychiatry, vol.
50, pp. 11–20, Apr. 2014.
[17] A. M. Salem, S. Ismail, W. A. Zarouk, O. Abdul Baky, A. A. Sayed, S.
Abd El-Hamid, et. al., “Genetic variants of neurotransmitter-related
genes and miRNAs in Egyptian autistic patients,”
ScientificWorldJournal, 2013: ID 670621, Dec. 2013.
[18] H. J. Yoo, S. K. Lee, M. Park, I. H. Cho, S. H. Hyun, J. C. Lee, et al.,
“Family- and population-based association studies of monoamine
oxidase A and autism spectrum disorders in Korean,” Neurosci. Res., vol
63, no. 3, pp. 172–176, Mar. 2009.[19] Y. Park, S. Won, M. Nam, J. H. Chung, and K. Kwack, “Interaction
between MAOA and FOXP2 in association with autism and verbal
communication in Korean population (Epub ahead of print),” J. Child.
Neurol., Dec. 2013.
[20] C. S. Lai, S. E. Fisher, J. A. Hurst, F. Vargha-Khadem, and A. P.
Monaco, “A forkhead-domain gene is mutated in a severe speech and
language disorder,” Nature, vol. 413, no. 6855, pp. 519-523, Oct. 2001.
[21] K. D. MacDermot, E. Bonora, N. Sykes, A. M. Coupe, C. S. Lai, S. C.
Vernes, et al., “Identification of FOXP2 truncation as a novel cause of
developmental speech and language deficits,” Am. J. Hum. Genet., vol.
76, no. 6, pp.1074-1080, Jun. 2005.
[22] J. B. Wu, K. Chen, Y. Li, Y. F. Lau, and J. C. Shih, “Regulation of
monoamine oxidase A by the SRY gene on the Y chromosome,” FASEB
J., vol. 23, no. 11, pp. 4029–38, Nov. 2009.