Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population
Abstract
The oxytocin receptor (OXTR) gene, which is located on chromosome 3p25.3, has been implicated as a candidate gene for susceptibility of autism spectrum disorder (ASD). Positive associations between OXTR and ASD have been reported in earlier studies. However, the results were inconsistent and demand further studies. In this study, we investigated the associations between OXTR and ASD in a Japanese population by analyzing 11 single-nucleotide polymorphisms (SNPs) using both family-based association test (FBAT) and population-based case-control test. No significant signal was detected in the FBAT test. However, significant differences were observed in allelic frequencies of four SNPs, including rs2254298 between patients and controls. The risk allele of rs2254298 was 'A', which was consistent with the previous study in Chinese, and not with the observations in Caucasian. The difference in the risk allele of this SNP in previous studies might be attributable to an ethnic difference in the linkage disequilibrium structure between the Asians and Caucasians. In addition, haplotype analysis exhibits a significant association between a five-SNP haplotype and ASD, including rs22542898. In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population.
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Polymorphisms in the human OXTR gene are significantly associated with an ASD diagnosis and/or predict the severity of ASD.
“many of these genetic studies have found that polymorphisms in the human OXT receptor (OXTR) gene are significantly associated with an ASD diagnosis and/or predict the severity of ASD4–12.”
From Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain (2018) · cites this paper as [10]
Only Caucasian individuals were eligible because DNA methylation varies across race and ethnicity.
“Only Caucasian individuals were eligible for study participation based on evidence that DNA methylation varies across race/ethnicity (Bakermans-Kranenburg, & Van Iljezdoorn, 2014; Heyn, et al., 2013; Liu et al., 2010).”
From Associations between oxytocin receptor gene (OXTR) methylation, plasma oxytocin, and attachment across adulthood (2019) · cites this paper as Liu et al., 2010
The study kept race/ethnicity constant by including only Caucasian participants.
“Being the first adult developmental examination into this topic, we held race/ethnicity constant to only Caucasian participants based on evidence that DNA methylation varies across race/ethnicity (Bakermans-Kranenburg & Van Iljezdoorn, 2014, Heyn, et al., 2013, Liu et al., 2010).”
From Associations between oxytocin receptor gene (OXTR) methylation, plasma oxytocin, and attachment across adulthood (2019) · cites this paper as Liu et al., 2010
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Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
(1998) · The Journal of Clinical Psychiatry · Cited by 19,139 · see citing works
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J., Fry, B., Maller, J., & Daly, M. (2005) · Bioinform. · doi:10.1093/bioinformatics/bth457 · Cited by 15,086 · see citing works
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
A Note on Exact Tests of Hardy-Weinberg Equilibrium
Wigginton, J. E., Cutler, D. J., & Abecasis, G. R. (2005) · The American Journal of Human Genetics · doi:10.1086/429864 · Cited by 1,458 · see citing works
Autism spectrum disorders: developmental disconnection syndromes
Geschwind, D. H., & Levitt, P. (2007) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2007.01.009 · Cited by 1,411 · see citing works
Social amnesia in mice lacking the oxytocin gene
Ferguson, J. N., Young, L. J., Hearn, E. F., Matzuk, M. M., Insel, T. R., & Winslow, J. T. (2000) · Nature Genetics · doi:10.1038/77040 · Cited by 1,130 · see citing works
Pervasive social deficits, but normal parturition, in oxytocin receptor-deficient mice
Takayanagi, Y., Yoshida, M., Bielsky, I. F., Ross, H. E., Kawamata, M., Onaka, T., Yanagisawa, T., Kimura, T., Matzuk, M. M., Young, L. J., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505312102 · Cited by 806 · see citing works
Genetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771 · see citing works
Plasma oxytocin levels in autistic children
Modahl, C., Green, L. A., Fein, D., Morris, M., Waterhouse, L., Feinstein, C., & Levin, H. (1998) · Biological Psychiatry · doi:10.1016/s0006-3223(97)00439-3 · Cited by 728 · see citing works
Postnatal neurodevelopmental disorders: meeting at the synapse?
Zoghbi, H. Y. (2003) · Science · doi:10.1126/science.1089071 · Cited by 691 · see citing works
Oxytocin Infusion Reduces Repetitive Behaviors in Adults with Autistic and Asperger's Disorders
Hollander, E., Novotny, S., Hanratty, M., Yaffe, R., DeCaria, C. M., Aronowitz, B. R., & Mosovich, S. (2003) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300021 · Cited by 689 · see citing works
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638 · see citing works
Structure and expression of a human oxytocin receptor
Kimura, T., Tanizawa, O., Mori, K., Brownstein, M., & Okayama, H. (1992) · Nature · doi:10.1038/356526a0 · Cited by 631 · see citing works
Fombonne, E. (2003) · JAMA · doi:10.1001/jama.289.1.87 · Cited by 604 · see citing works
Positive Association of the Oxytocin Receptor Gene (OXTR) with Autism in the Chinese Han Population
Wu, S., Jia, M., Ruan, Y., Liu, J., Guo, Y., Mei, S., Gong, X., Zhang, Y., Yang, X., & Zhang, D. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.03.013 · Cited by 553 · see citing works
Genetic Heterogeneity Between the Three Components of the Autism Spectrum: A Twin Study
RONALD, A., HAPPÉ, F., BOLTON, P., BUTCHER, L. M., PRICE, T. S., WHEELWRIGHT, S., BARON-COHEN, S., & PLOMIN, R. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000215325.13058.9d · Cited by 508 · see citing works
Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism
Jacob, S., Brune, C. W., Carter, C. S., Leventhal, B. L., Lord, C., & Cook, E. H. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2007.02.001 · Cited by 425 · see citing works
Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001757 · Cited by 353 · see citing works
Lerer, E., Levi, S., Salomon, S., Darvasi, A., Yirmiya, N., & Ebstein, R. P. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002087 · Cited by 349 · see citing works
Rearing effects on cerebrospinal fluid oxytocin concentration and social buffering in rhesus monkeys
Winslow, J. T., Noble, P. L., Lyons, C. K., Sterk, S. M., & Insel, T. R. (2003) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300128 · Cited by 345 · see citing works
Genetics and Child Psychiatry: II Empirical Research Findings
Rutter, M. L., Silberg, J. L., O’Connor, T. G., & Simonoff, E. A. (1999) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00423 · Cited by 313 · see citing works
Oxytocin, vasopressin and pair bonding: implications for autism
Hammock, E. A. D., & Young, L. J. (2006) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2006.1939 · Cited by 289 · see citing works
Molecular genetics of autism spectrum disorder
Veenstra-VanderWeele, J. M., & Cook, E. H. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001505 · Cited by 220 · see citing works
Recent Advances in the Genetics of Autism
Gupta, A. R., & State, M. W. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.06.020 · Cited by 203 · see citing works
Genes Controlling Affiliative Behavior as Candidate Genes for Autism
Yrigollen, C. M., Han, S. S., Kochetkova, A., Babitz, T., Chang, J. T., Volkmar, F. R., Leckman, J. F., & Grigorenko, E. L. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.11.015 · Cited by 172 · see citing works
Family-Based Tests of Association and Linkage That Use Unaffected Sibs, Covariates, and Interactions
Lunetta, K. L., Faraone, S. V., Biederman, J., & Laird, N. M. (2000) · The American Journal of Human Genetics · doi:10.1086/302782 · Cited by 155 · see citing works
Braun, K. V. N., Pettygrove, S. D., Daniels, J. L., Miller, L. A., Nicholas, J. S., Baio, J., Schieve, L. A., Kirby, R. S., Washington, A., Brocksen, S., et al. (2007) · PubMed · Cited by 121 · see citing works
Lauritsen, M. B., Als, T. D., Dahl, H. A., Flint, T. J., Wang, A. G., Vang, M., Kruse, T. A., Ewald, H., & Mors, O. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001754 · Cited by 82 · see citing works
Mizumoto, Y., Kimura, T., & Ivell, R. (1997) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(97)00195-0 · Cited by 79 · see citing works
Flagged first, then by citations
1 of the 31 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Insel, T. R. (2010) · Neuron · doi:10.1016/j.neuron.2010.03.005 · Cited by 1,044 · see citing works
The impact of atypical sensory processing on social impairments in autism spectrum disorder
Thye, M. D., Bednarz, H. M., Herringshaw, A. J., Sartin, E. B., & Kana, R. K. (2018) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2017.04.010 · Cited by 513 · see citing works
Autism, oxytocin and interoception
Quattrocki, E., & Friston, K. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.09.012 · Cited by 393 · see citing works
Sensitive Parenting Is Associated with Plasma Oxytocin and Polymorphisms in the OXTR and CD38 Genes
Feldman, R., Zagoory-Sharon, O., Weisman, O., Schneiderman, I., Gordon, I., Maoz, R., Shalev, I., & Ebstein, R. P. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.12.025 · Cited by 393 · see citing works
The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis
LoParo, D., & Waldman, I. D. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.77 · Cited by 343 · see citing works
The contributions of oxytocin and vasopressin pathway genes to human behavior
Ebstein, R. P., Knafo, A., Mankuta, D., Chew, S. H., & Lai, P. S. (2012) · Hormones and Behavior · doi:10.1016/j.yhbeh.2011.12.014 · Cited by 283 · see citing works
Chen, F. S., Kumsta, R., von Dawans, B., Monakhov, M., Ebstein, R. P., & Heinrichs, M. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1113079108 · Cited by 268 · see citing works
Cochran, D. M., Fallon, D., Hill, M., & Frazier, J. A. (2013) · Harvard Review of Psychiatry · doi:10.1097/hrp.0b013e3182a75b7d · Cited by 267 · see citing works
Autism Spectrum Disorders and Epigenetics
Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.05.005 · Cited by 235 · see citing works
Parker, K. J., Garner, J. P., Libove, R. A., Hyde, S. A., Hornbeak, K. B., Carson, D. S., Liao, C.-P., Phillips, J. M., Hallmayer, J. F., & Hardan, A. Y. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1402236111 · Cited by 215 · see citing works
Guastella, A. J., & Hickie, I. B. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.06.028 · Cited by 223 · see citing works
The oxytocin system in drug discovery for autism: Animal models and novel therapeutic strategies
Modi, M. E., & Young, L. J. (2012) · Hormones and Behavior · doi:10.1016/j.yhbeh.2011.12.010 · Cited by 218 · see citing works
Multi-Scale molecular deconstruction of the serotonin neuron system
Okaty, B. W., Freret, M. E., Rood, B. D., Brust, R. D., Hennessy, M. L., deBairos, D., Kim, J. C., Cook, M. N., & Dymecki, S. M. (2015) · Neuron · doi:10.1016/j.neuron.2015.10.007 · Cited by 217 · see citing works
Variation in the Oxytocin Receptor Gene Is Associated with Pair-Bonding and Social Behavior
Walum, H., Lichtenstein, P., Neiderhiser, J. M., Reiss, D., Ganiban, J. M., Spotts, E. L., Pedersen, N. L., Anckarsäter, H., Larsson, H., & Westberg, L. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.09.002 · Cited by 211 · see citing works
Skuse, D. H., Lori, A., Cubells, J. F., Lee, I., Conneely, K. N., Puura, K., Lehtimäki, T., Binder, E. B., & Young, L. J. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1302985111 · Cited by 207 · see citing works
Oxytocin receptor genetic variation promotes human trust behavior
Krueger, F., Parasuraman, R., Iyengar, V., Thornburg, M., Weel, J., Lin, M., Clarke, E., McCabe, K., & Lipsky, R. H. (2012) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2012.00004 · Cited by 207 · see citing works
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Won, H., Mah, W., & Kim, E. (2013) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00019 · Cited by 204 · see citing works
Developmental Perspectives on Oxytocin and Vasopressin
Hammock, E. A. D. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2014.120 · Cited by 177 · see citing works
Social attention: a possible early indicator of efficacy in autism clinical trials
Dawson, G., Bernier, R., & Ring, R. H. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-11 · Cited by 181 · see citing works
Human neuroimaging of oxytocin and vasopressin in social cognition
Zink, C. F., & Meyer-Lindenberg, A. (2012) · Hormones and Behavior · doi:10.1016/j.yhbeh.2012.01.016 · Cited by 176 · see citing works
Campbell, D. B., Datta, D., Jones, S. T., Batey Lee, E., Sutcliffe, J. S., Hammock, E. A. D., & Levitt, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9071-2 · Cited by 170 · see citing works
Association between the oxytocin receptor gene and amygdalar volume in healthy adults
Inoue, H., Yamasue, H., Tochigi, M., Abe, O., Liu, X., Kawamura, Y., Takei, K., Suga, M., Yamada, H., Rogers, M. A., et al. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.07.019 · Cited by 164 · see citing works
Self-citationDomes, G., Kumbier, E., Heinrichs, M., & Herpertz, S. C. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2013.254 · Cited by 160 · see citing works
Keebaugh, A. C., Barrett, C. E., Laprairie, J. L., Jenkins, J. J., & Young, L. J. (2015) · Social Neuroscience · doi:10.1080/17470919.2015.1040893 · Cited by 150 · see citing works
Anagnostou, E., Soorya, L., Brian, J., Dupuis, A., Mankad, D., Smile, S., & Jacob, S. (2014) · Brain Research · doi:10.1016/j.brainres.2014.01.049 · Cited by 155 · see citing works
Miller, M., Bales, K. L., Taylor, S. L., Yoon, J., Hostetler, C. M., Carter, C. S., & Solomon, M. (2013) · Autism Research · doi:10.1002/aur.1270 · Cited by 151 · see citing works
Yamasue, H., Yee, J. R., Hurlemann, R., Rilling, J. K., Chen, F. S., Meyer-Lindenberg, A., & Tost, H. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.3327-12.2012 · Cited by 149 · see citing works
Roles of Oxytocin Neurones in the Control of Stress, Energy Metabolism, and Social Behaviour
Onaka, T., Takayanagi, Y., & Yoshida, M. (2012) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2012.02300.x · Cited by 123 · see citing works
Montag, C., Brockmann, E.-M., Lehmann, A. I., Müller, D. J., Rujescu, D., & Gallinat, J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0051882 · Cited by 123 · see citing works
Genome‐wide Association Study of Autism Spectrum Disorder in the East Asian Populations
Liu, X., Shimada, T., Otowa, T., Wu, Y., Kawamura, Y., Tochigi, M., Iwata, Y., Umekage, T., Toyota, T., Maekawa, M., et al. (2015) · Autism Research · doi:10.1002/aur.1536 · Cited by 115 · see citing works
Self-citationKosaka, H., Okamoto, Y., Munesue, T., Yamasue, H., Inohara, K., Fujioka, T., Anme, T., Orisaka, M., Ishitobi, M., Jung, M., et al. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.152 · Cited by 117 · see citing works
Barrett, C. E., Arambula, S. E., & Young, L. J. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.73 · Cited by 115 · see citing works
Oxytocin and Autism: A Systematic Review of Randomized Controlled Trials
Preti, A., Melis, M., Siddi, S., Vellante, M., Doneddu, G., & Fadda, R. (2014) · Journal of Child and Adolescent Psychopharmacology · doi:10.1089/cap.2013.0040 · Cited by 114 · see citing works
Oxytocin in schizophrenia: a review of evidence for its therapeutic effects
MacDonald, K. S., & Feifel, D. (2011) · Acta Neuropsychiatrica · doi:10.1111/j.1601-5215.2011.00634.x · Cited by 111 · see citing works
Brüne, M. (2012) · BMC Medicine · doi:10.1186/1741-7015-10-38 · Cited by 113 · see citing works
Carter, M. D., Shah, C. R., Muller, C. L., Crawley, J. N., Carneiro, A. M. D., & Veenstra-VanderWeele, J. M. (2011) · Autism Research · doi:10.1002/aur.180 · Cited by 112 · see citing works
Polymorphisms in the oxytocin receptor gene are associated with the development of psychopathy
Dadds, M. R., Moul, C., Cauchi, A., Dobson‐Stone, C., Hawes, D. J., Brennan, J., Urwin, R., & Ebstein, R. P. (2013) · Development and Psychopathology · doi:10.1017/s0954579413000485 · Cited by 108 · see citing works
Oxytocin Receptor (OXTR) Polymorphisms and Attachment in Human Infants
Chen, F. S., Barth, M. E., Johnson, S. L., Gotlib, I. H., & Johnson, S. C. (2011) · Frontiers in Psychology · doi:10.3389/fpsyg.2011.00200 · Cited by 106 · see citing works
Genes associated with autism spectrum disorder
Li, X., Zou, H., & Brown, W. T. (2012) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2012.05.017 · Cited by 102 · see citing works
Oxytocin and oxytocin receptor gene polymorphisms and risk for schizophrenia: A case–control study
Montag, C., Brockmann, E.-M., Bayerl, M., Rujescu, D., Müller, D. J., & Gallinat, J. (2012) · The World Journal of Biological Psychiatry · doi:10.3109/15622975.2012.677547 · Cited by 104 · see citing works
Cataldo, I., Azhari, A., & Esposito, G. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00027 · Cited by 95 · see citing works
DNA Nanotweezers and Graphene Transistor Enable Label‐Free Genotyping
Hwang, M. T., Wang, Z., Ping, J., Ban, D. K., Shiah, Z. C., Antonschmidt, L., Lee, J., Liu, Y., Karkisaval, A. G., Johnson, A. T. C., et al. (2018) · Advanced Materials · doi:10.1002/adma.201802440 · Cited by 100 · see citing works
Stavropoulos, K. K. M., & Carver, L. J. (2013) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12061 · Cited by 95 · see citing works
Myers, A., Williams, L. M., Gatt, J. M., McAuley, E. Z., Dobson‐Stone, C., Schofield, P. R., & Nemeroff, C. B. (2014) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2014.08.021 · Cited by 95 · see citing works
Genomic and genetic aspects of autism spectrum disorder
Liu, X., & Takumi, T. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.108 · Cited by 93 · see citing works
Self-citationRijlaarsdam, J., van IJzendoorn, M. H., Verhulst, F. C., Jaddoe, V. W. V., Felix, J. F., Tiemeier, H. W., & Bakermans‐Kranenburg, M. J. (2016) · Autism Research · doi:10.1002/aur.1681 · Cited by 89 · see citing works
Freeman, S. M., Palumbo, M. C., Lawrence, R. H., Smith, A. L., Goodman, M. M., & Bales, K. L. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0315-3 · Cited by 82 · see citing works
Park, J., Willmott, M., Vetuz, G., Toye, C., Kirley, A., Hawi, Z., Brookes, K. J., Gill, M., & Kent, L. (2010) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2010.03.029 · Cited by 82 · see citing works
Ebner, N. C., Lin, T., Muradoglu, M., Weir, D. H., Plasencia, G. M., Lillard, T. S., Pournajafi-Nazarloo, H., Cohen, R. A., Sue Carter, C., & Connelly, J. J. (2019) · International Journal of Psychophysiology · doi:10.1016/j.ijpsycho.2018.01.008 · Cited by 79 · see citing works
Husarova, V. M., Lakatošová, S., Pivovarciova, A., Babinská, K., Bakoš, J., Durdiaková, J., Kubranská, A., Ondrejka, I., & Ostatníková, D. (2016) · Psychiatry Investigation · doi:10.4306/pi.2016.13.2.174 · Cited by 78 · see citing works
Oxytocin and socioemotional aging: current knowledge and future trends
Ebner, N. C., Maura, G. M., MacDonald, K., Westberg, L., & Fischer, H. (2013) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2013.00487 · Cited by 78 · see citing works
Examining Autism Spectrum Disorders by Biomarkers: Example From the Oxytocin and Serotonin Systems
Hammock, E. A. D., Veenstra-VanderWeele, J. M., Yan, Z., Kerr, T. M., Morris, M., Anderson, G. M., Carter, C. S., Cook, E. H., & Jacob, S. (2012) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2012.04.010 · Cited by 79 · see citing works
Zhang, R., Zhang, H.-F., Han, J., & Han, S. (2017) · Neuroscience Bulletin · doi:10.1007/s12264-017-0120-7 · Cited by 78 · see citing works
Riebold, M., Mankuta, D., Lerer, E., Israel, S., Zhong, S., Nemanov, L., Monakhov, M. V., Levi, S., Yirmiya, N., Yaari, M., et al. (2011) · Molecular Medicine · doi:10.2119/molmed.2011.00080 · Cited by 71 · see citing works
Singletary, W. M. (2015) · Neuropsychoanalysis · doi:10.1080/15294145.2015.1092334 · Cited by 71 · see citing works
Cataldo, I., Azhari, A., Lepri, B., & Esposito, G. (2017) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2017.10.007 · Cited by 70 · see citing works
Guo, T., Chen, H., Liu, B., Ji, W., & Yang, C. (2012) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2012.0091 · Cited by 69 · see citing works
Anderson, M. R., Miller, L., WICKRAMARATNE, P. J., Svob, C., Odgerel, Z., Zhao, R., & Weissman, M. M. (2017) · Spirituality in Clinical Practice · doi:10.1037/scp0000125 · Cited by 65 · see citing works
Chen, F. S., & Johnson, S. C. (2011) · Social Psychological and Personality Science · doi:10.1177/1948550611410325 · Cited by 66 · see citing works
Harony, H., & Wagner, S. (2010) · Neurosignals · doi:10.1159/000321035 · Cited by 62 · see citing works
Hara, Y., Ago, Y., Higuchi, M., Hasebe, S., Nakazawa, T., Hashimoto, H., Matsuda, T., & Takuma, K. (2017) · Hormones and Behavior · doi:10.1016/j.yhbeh.2017.09.013 · Cited by 61 · see citing works
Roles of the Oxytocin Receptor (OXTR) in Human Diseases
Pierzynowska, K., Gaffke, L., Żabińska, M., Cyske, Z., Rintz, E., Wiśniewska, K., Podlacha, M., & Węgrzyn, G. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043887 · Cited by 61 · see citing works
ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin—AVPR1A, AVPR1B, and OXTR
Francis, S. M., Kim, S., Kistner‐Griffin, E., Guter, S. J., Cook, E. H., & Jacob, S. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00516 · Cited by 62 · see citing works
Yamasue, H. (2012) · Brain and Development · doi:10.1016/j.braindev.2012.08.010 · Cited by 57 · see citing works
Genetic modulation of oxytocin sensitivity: A pharmacogenetic approach
Chen, F. S., Kumsta, R., Dvorak, F., Domes, G., Yim, O. S., Ebstein, R. P., & Heinrichs, M. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.163 · Cited by 59 · see citing works
Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome
Di Napoli, A., Warrier, V., Baron-Cohen, S., & Chakrabarti, B. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-48 · Cited by 59 · see citing works
New opportunities in vasopressin and oxytocin research: a perspective from the amygdala.
Stoop, R., Hegoburu, C., & van den Burg, E. (2015) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-071714-033904 · Cited by 56 · see citing works
Kraaijenvanger, E. J., He, Y., Spencer, H., Smith, A. K., Bos, P. A., & Boks, M. P. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.11.016 · Cited by 57 · see citing works
Oxytocin receptor gene variations predict neural and behavioral response to oxytocin in autism
Watanabe, T., Otowa, T., Abe, O., Kuwabara, H., Aoki, Y., Natsubori, T., Takao, H., Kakiuchi, C., Kondo, K., Ikeda, M., et al. (2017) · Social Cognitive and Affective Neuroscience · doi:10.1093/scan/nsw150 · Cited by 54 · see citing works
Self-citationThe association between an oxytocin receptor gene polymorphism and cultural orientations
Luo, S., & Han, S. (2014) · Culture and Brain · doi:10.1007/s40167-014-0017-5 · Cited by 54 · see citing works
Bartholomeusz, C. F., Ganella, E. P., Labuschagne, I., Bousman, C., & Pantelis, C. (2015) · Schizophrenia Research · doi:10.1016/j.schres.2015.06.007 · Cited by 54 · see citing works
Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards
Damiano, C. R., Aloi, J. M., Dunlap, K., Burrus, C. J., Mosner, M. G., Kozink, R. V., McLaurin, R. E., Mullette-Gillman, O. A., Carter, R., Huettel, S. A., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-7 · Cited by 54 · see citing works
Autism: Oxytocin, serotonin, and social reward
Dölen, G. (2015) · Social Neuroscience · doi:10.1080/17470919.2015.1087875 · Cited by 51 · see citing works
The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism
Uzefovsky, F., Bethlehem, R. A. I., Shamay-Tsoory, S., Ruigrok, A., Holt, R., Spencer, M., Chura, L., Warrier, V., Chakrabarti, B., Bullmore, E., et al. (2019) · Molecular Autism · doi:10.1186/s13229-019-0258-4 · Cited by 49 · see citing works
Modi, M. E., & Young, L. J. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.01.026 · Cited by 47 · see citing works
Association between the oxytocin receptor ( OXTR ) gene and children's social cognition at 18 months
Wade, M., Hoffmann, T. J., Wigg, K., & Jenkins, J. M. (2014) · Genes Brain & Behavior · doi:10.1111/gbb.12148 · Cited by 47 · see citing works
Kranz, T. M., Kopp, M., Waltes, R., Sachse, M., Duketis, E., Jarczok, T. A., Degenhardt, F., Görgen, K., Meyer, J., Freitag, C. M., et al. (2016) · Autism Research · doi:10.1002/aur.1597 · Cited by 46 · see citing works
McDonald, N. M., Baker, J. K., & Messinger, D. S. (2016) · Developmental Psychology · doi:10.1037/dev0000104 · Cited by 43 · see citing works
Reichova, A., Bačová, Z., Bukatová, S., Kokavcova, M., Melišková, V., Frimmel, K., Ostatníková, D., & Bakoš, J. (2020) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2020.110924 · Cited by 43 · see citing works
Relationship between oxytocin receptor genotype and recognition of facial emotion.
Melchers, M., Montag, C., Markett, S. A., & Reuter, M. (2013) · Behavioral Neuroscience · doi:10.1037/a0033748 · Cited by 41 · see citing works
Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects
Wang, J., Qin, W., Liu, B., Wang, D., Zhang, Y., Jiang, T., & Yu, C. (2013) · NeuroImage · doi:10.1016/j.neuroimage.2013.05.029 · Cited by 42 · see citing works
Davis, M. C., Horan, W. P., Nurmi, E. L., Rizzo, S., Li, W. W., Sugar, C. A., & Green, M. F. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.09.006 · Cited by 40 · see citing works
Lin, I.-F., Kashino, M., Ohta, H., Yamada, T., Tani, M., Watanabe, H., Kanai, C., Ohno, T., Takayama, Y., Iwanami, A., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-20 · Cited by 40 · see citing works
Self-citationYang, S., Dong, X., Guo, X., Han, Y., Song, H., Gao, L., Dai, W., Su, Y., & Zhang, X. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00221 · Cited by 40 · see citing works
Ma, W.-J., Hashii, M., Munesue, T., Hayashi, K., Yagi, K., Yamagishi, M., Higashida, H., & Yokoyama, S. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-22 · Cited by 42 · see citing works
Nyffeler, J., Walitza, S., Bobrowski, E., Gundelfinger, R., & Grünblatt, E. (2014) · Journal of Molecular Psychiatry · doi:10.1186/2049-9256-2-1 · Cited by 40 · see citing works
Using genetic findings in autism for the development of new pharmaceutical compounds
Vorstman, J. A. S., Spooren, W. P. J. M., Persico, A. M., Collier, D. A., Aigner, S., Jagasia, R., Glennon, J. C., & Buitelaar, J. K. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3334-z · Cited by 38 · see citing works
Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders
Kim, K. C., Gonzales, E. L., Lázaro, M. T., Choi, C. S., Bahn, G. H., Yoo, H. J., & Shin, C. Y. (2016) · Biomolecules & Therapeutics · doi:10.4062/biomolther.2016.061 · Cited by 40 · see citing works
Tops, S., Habel, U., & Radke, S. (2018) · Hormones and Behavior · doi:10.1016/j.yhbeh.2018.03.002 · Cited by 39 · see citing works
Ceroni, F., Sagar, A., Simpson, N. H., Gawthrope, A. J. T., Newbury, D. F., Pinto, D., Francis, S. M., Tessman, D. C., Cook, E. H., Monaco, A. P., et al. (2014) · Autism Research · doi:10.1002/aur.1365 · Cited by 34 · see citing works
Slane, M. M., Lusk, L. G., Boomer, K. B., Hare, A., King, M. K., & Evans, D. W. (2014) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2014.04.001 · Cited by 34 · see citing works
Mbadiwe, T., & Millis, R. M. (2013) · Autism Research and Treatment · doi:10.1155/2013/826156 · Cited by 32 · see citing works
Is Oxytocin Application for Autism Spectrum Disorder Evidence-Based?
Lee, S. Y., Lee, A. R., Hwangbo, R., Han, J., Hong, M., & Bahn, G. H. (2015) · Experimental Neurobiology · doi:10.5607/en.2015.24.4.312 · Cited by 32 · see citing works
Schwartz, S. S., Gallagher, R. J., & Berkson, G. (1986) · PubMed · Cited by 32 · see citing works
Morphofunctional Alterations of the Hypothalamus and Social Behavior in Autism Spectrum Disorders
Carìa, A., Ciringione, L., & de Falco, S. (2020) · Brain Sciences · doi:10.3390/brainsci10070435 · Cited by 29 · see citing works
Variation in the Oxytocin Receptor Gene Is Associated With Social Cognition and ADHD
Kalyoncu, T., Özbaran, B., Köse, S., & Önay, H. (2017) · Journal of Attention Disorders · doi:10.1177/1087054717706757 · Cited by 29 · see citing works
Wade, M., Hoffmann, T. J., & Jenkins, J. M. (2015) · Social Cognitive and Affective Neuroscience · doi:10.1093/scan/nsv064 · Cited by 26 · see citing works
Schaschl, H., Huber, S., Schæfer, K., Windhager, S., Wallner, B., & Fieder, M. (2015) · BMC Evolutionary Biology · doi:10.1186/s12862-015-0372-7 · Cited by 27 · see citing works
Harrison, A. J., Gamsiz, E. D., Berkowitz, I. C., Nagpal, S., & Jerskey, B. A. (2015) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32377 · Cited by 26 · see citing works
Szczepanska‐Sadowska, E. K., Wsół, A., Cudnoch‐Jędrzejewska, A., Czarzasta, K., & Żera, T. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11040908 · Cited by 26 · see citing works
- Authors
- Liu, X., Kawamura, Y., Shimada, T., Otowa, T., Koishi, S., Sugiyama, T., Nishida, H., Hashimoto, O., Nakagami, R., Tochigi, M., Umekage, T., Kano, Y., Miyagawa, T., Kato, N., Tokunaga, K., & Sasaki, T.
- Affiliations
- The University of Tokyo (JP)
- University of Tokyo Hospital (JP)
- Aino University (JP)
- SHOWA Medical University (JP)
- Corresponding author
- Sasaki, Tsukasa
- ORCID
- Venue
- Journal of Human Genetics
- Published
- 2010-01-22
- Volume
- 55
- Issue
- 3
- Pages
- 137-141
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2044009124
- Cited by
- 195
- References
- 31
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 5 · 2023: 13 · 2022: 6 · 2021: 3 · 2020: 10 · 2019: 4 · 2018: 10 · 2017: 11 · 2016: 19 · 2015: 19 · 2014: 25 · 2013: 18 · 2012: 21
- FWCI
- 12.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- oxytocin receptor, autism spectrum disorder, single nucleotide polymorphisms, rs2254298, haplotype association, genetic susceptibility, Japanese population, family-based association test
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Family, Female, Gene Frequency, Genetic Markers, Haplotypes, Humans, Japan, Male, Linkage Disequilibrium, Receptors, Oxytocin, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People
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