Association of AVPR1A gene microsatellites with Autism Spectrum Disorder in south Indian population
Keywords:
Autism Spectrum Disorder (ASD), AVPR1A, Allele, MicrosatellitesAbstract
Pharmacological studies have shown the therapeutic potential of Arginine Vasopressin Receptor (AVPR1A) for Autism Spectrum Disorders (ASDs) with socialization and communication symptoms. Present study investigated the association of promoter microsatellites (RS1 and RS3) polymorphisms of AVPR1A gene with ASDs in south Indian ethnicity. We recruited 225 subjects that constitutes of 118 ASD subjects diagnosed based on DSM-IV criteria and 107 controls, aged between 2 and 25 years of south Indian ethnicity. Case control association with RS1 allele length- 318bp, (P = 0.009); allele length- 330bp (P = 0.02); overall association with RS1 (P = 0.02) and RS3 allele length- 333bp (P = 0.002) , 335bp (P = 0.045) over all association (P = 0.002) with ASDs was found to be significant. Our results reveal that, RS1 and RS3 microsatellites of AVPR1A gene contribute to the susceptibility of ASD in south Indian ethnicity.
References
Z. R. Donaldson and L. J. Young, “Oxytocin, vasopressin, and the neurogenetics of sociality.,” Science, vol. 322, no. 5903, pp. 900–904, Nov. 2008.
A. D. Hammock and L. J. Young, “Oxytocin, vasopressin and pair bonding: implications for autism.,” Philos. Trans. R. Soc. Lond. B. Biol. Sci., vol. 361, no. 1476, pp. 2187–2198, Dec. 2006.
E. B. Keverne and J. P. Curley, “Vasopressin, oxytocin and social behaviour.,” Curr. Opin. Neurobiol., vol. 14, no. 6, pp. 777–783, Dec. 2004.
H. Wassink et al., “Examination of AVPR1a as an autism susceptibility gene.,” Mol. Psychiatry, vol. 9, no. 10, pp. 968–972, Oct. 2004.
M. Thibonnier, M. K. Graves, M. S. Wagner, C. Auzan, E. Clauser, and H. F. Willard, “Structure, sequence, expression, and chromosomal localization of the human V1a vasopressin receptor gene.,” Genomics, vol. 31, no. 3, pp. 327–334, Feb. 1996.
A. Meyer-Lindenberg et al., “Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans.,” Mol. Psychiatry, vol. 14, no. 10, pp. 968–975, Oct. 2009.
S.-J. Kim et al., “Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism.,” Mol. Psychiatry, vol. 7, no. 5, pp. 503–507, 2002.
N. Yirmiya et al., “Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.,” Mol. Psychiatry, vol. 11, no. 5, pp. 488–494, May 2006.
K. Kantojarvi et al., “Association and Promoter Analysis of AVPR1A in Finnish Autism Families.,” Autism Res., vol. 8, no. 5, pp. 634–639, Oct. 2015.
K. E. Tansey, M. J. Hill, L. E. Cochrane, M. Gill, R. J. Anney, and L. Gallagher, “Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism.,” Mol. Autism, vol. 2, no. 1, p. 3, Mar. 2011.
L. A. McGraw and L. J. Young, “The prairie vole: an emerging model organism for understanding the social brain.,” Trends Neurosci., vol. 33, no. 2, pp. 103–109, Feb. 2010.
Z. R. Donaldson and L. J. Young, “Oxytocin, vasopressin, and the neurogenetics of sociality.,” Science, vol. 322, no. 5903, pp. 900–904, Nov. 2008.
R. Charles et al., “Introduction of the human AVPR1A gene substantially alters brain receptor expression patterns and enhances aspects of social behavior in transgenic mice.,” Dis. Model. Mech., vol. 7, no. 8, pp. 1013–1022, Aug. 2014.
J. M. Sadino and Z. R. Donaldson, “Prairie Voles as a Model for Understanding the Genetic and Epigenetic Regulation of Attachment Behaviors.,” ACS Chem. Neurosci., vol. 9, no. 8, pp. 1939–1950, Aug. 2018.
F. Dudbridge, “Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data.,” Hum. Hered., vol. 66, no. 2, pp. 87–98, 2008.
A. Knafo, C. Zahn-Waxler, C. Van Hulle, J. L. Robinson, and S. H. Rhee, “The developmental origins of a disposition toward empathy: Genetic and environmental contributions.,” Emotion, vol. 8, no. 6, pp. 737–752, Dec. 2008.
A. P. Morley et al., “AVPR1A and SLC6A4 polymorphisms in choral singers and non-musicians: a gene association study.,” PLoS One, vol. 7, no. 2, p. e31763, 2012.
R. Avinun et al., “AVPR1A variant associated with preschoolers’ lower altruistic behavior.,” PLoS One, vol. 6, no. 9, p. e25274, 2011.
R. Zhang, H.-F. Zhang, J.-S. Han, and S.-P. Han, “Genes Related to Oxytocin and Arginine-Vasopressin Pathways: Associations with Autism Spectrum Disorders.,” Neurosci. Bull., vol. 33, no. 2, pp. 238–246, Apr. 2017.
S. M. Francis, S.-J. Kim, E. Kistner-Griffin, S. Guter, E. H. Cook, and S. Jacob, “ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.,” Front. Neurosci., vol. 10, p. 516, 2016.
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