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Journal of Autism and Developmental Disorders

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18-09-2019 | Original Paper

Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism

Auteurs: A. E. Shindler, E. L. Hill-Yardin, S. Petrovski, N. Bishop, A. E. Franks

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 1/2020

Abstract

This study investigated genetic biomarkers for gastrointestinal dysfunction symptoms in order to provide further information on the genetic risk for GI dysfunction associated with autism. The single nucleotide polymorphisms of sixty participants with autism and/or gastrointestinal dysfunction were analyzed. The autism group had a moderate statistical significance for the Prolactin (PRL) (OR 6.35, p value 0.069) and Interleukin 10 (IL-10) (OR 0.25, p value 0.087) SNPs. The GI dysfunction group had a strong statistical significance for the Cluster of Differentiation 38 (CD38) (OR 6.88, p value 0.005) and oxytocin receptor (OXTR) (OR 0.27, p value 0.036) SNPs. The potential use of PRL, IL-10, CD38, and OXTR SNP expression as biomarkers for GI dysfunction in autism warrants further research.

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Adams, J. B., Johansen, L. J., Powell, L. D., Quig, D., & Rubin, R. A. (2011). Gastrointestinal flora and gastrointestinal status in children with autism–comparisons to typical children and correlation with autism severity. BMC Gastroenterology, 11(1), 22. PubMedPubMedCentral

Al-Sadi, R., Guo, S., Ye, D., Rawat, M., & Ma, T. Y. (2016). TNF-α modulation of intestinal tight junction permeability is mediated by NIK/IKK-α axis activation of the canonical NF-κB Pathway. The American Journal of Pathology, 186(5), 1151–1165. PubMedPubMedCentral

Anderson, B., Schnetz-Boutaud, N., Bartlett, J., Wotawa, A., Wright, H., Abramson, R., et al. (2009). Examination of association of genes in the serotonin system to autism. Neurogenetics, 10(3), 209. PubMedPubMedCentral

Bessenyei, B., Marka, M., Urban, L., Zeher, M., & Semsei, I. (2004). Single nucleotide polymorphisms: Aging and diseases. Biogerontology, 5(5), 291–303. PubMed

Bjørklund, G., Meguid, N. A., El-Ansary, A., El-Bana, M. A., Dadar, M., Aaseth, J., et al. (2018). Diagnostic and severity-tracking biomarkers for autism spectrum disorder. Journal of Molecular Neuroscience, 66(4), 492–511. PubMed

Black, C., Kaye, J. A., & Jick, H. (2002). Relation of childhood gastrointestinal disorders to autism: Nested case-control study using data from the UK General Practice Research Database. BMJ, 325(7361), 419–421. PubMedPubMedCentral

Bresnahan, M., Hornig, M., Schultz, A. F., Gunnes, N., Hirtz, D., Lie, K. K., et al. (2015). Association of maternal report of infant and toddler gastrointestinal symptoms with autism: Evidence from a prospective birth cohort. JAMA Psychiatry, 72(5), 466–474. PubMedPubMedCentral

Brophy, V. H., Jampsa, R. L., Clendenning, J. B., McKinstry, L. A., Jarvik, G. P., & Furlong, C. E. (2001). Effects of 5′ regulatory-region polymorphisms on paraoxonase-gene (PON1) expression. The American Journal of Human Genetics, 68(6), 1428–1436. PubMed

Chang, W. H., Lee, I. H., Chen, K. C., Chi, M. H., Chiu, N.-T., Yao, W. J., et al. (2014). Oxytocin receptor gene rs53576 polymorphism modulates oxytocin–dopamine interaction and neuroticism traits—a SPECT study. Psychoneuroendocrinology, 47, 212–220. PubMed

Chen, F. S., Kumsta, R., von Dawans, B., Monakhov, M., Ebstein, R. P., & Heinrichs, M. (2011). Common oxytocin receptor gene (OXTR) polymorphism and social support interact to reduce stress in humans. Proceedings of the National Academy of Sciences, 108(50), 19937–19942.

Cheng, S., Grow, M. A., Pallaud, C., Klitz, W., Erlich, H. A., Visvikis, S., et al. (1999). A multilocus genotyping assay for candidate markers of cardiovascular disease risk. Genome Research, 9(10), 936–949. PubMedPubMedCentral

Cordeiro, C. A., Moreira, P. R., Andrade, M. S., Dutra, W. O., Campos, W. R., Oréfice, F., et al. (2008). Interleukin-10 gene polymorphism (− 1082G/A) is associated with toxoplasmic retinochoroiditis. Investigative Ophthalmology & Visual Science, 49(5), 1979–1982.

Curtin, K., Wolff, R. K., Herrick, J. S., Abo, R., & Slattery, M. L. (2010). Exploring multilocus associations of inflammation genes and colorectal cancer risk using hapConstructor. BMC Medical Genetics, 11(1), 170. PubMedPubMedCentral

De Bakker, P. I., McVean, G., Sabeti, P. C., Miretti, M. M., Green, T., Marchini, J., et al. (2006). A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nature Genetics, 38(10), 1166. PubMedPubMedCentral

Devkota, S., Wang, Y., Musch, M. W., Leone, V., Fehlner-Peach, H., Nadimpalli, A., et al. (2012). Dietary-fat-induced taurocholic acid promotes pathobiont expansion and colitis in Il10-/-mice. Nature, 487(7405), 104–108. PubMedPubMedCentral

Easton, D. F., Pharoah, P. D., Antoniou, A. C., Tischkowitz, M., Tavtigian, S. V., Nathanson, K. L., et al. (2015). Gene-panel sequencing and the prediction of breast-cancer risk. New England Journal of Medicine, 372(23), 2243–2257. PubMed

Feldman, R., Gordon, I., Influs, M., Gutbir, T., & Ebstein, R. P. (2013). Parental oxytocin and early caregiving jointly shape children’s oxytocin response and social reciprocity. Neuropsychopharmacology, 38(7), 1154. PubMedPubMedCentral

Feldman, R., Zagoory-Sharon, O., Weisman, O., Schneiderman, I., Gordon, I., Maoz, R., et al. (2012). Sensitive parenting is associated with plasma oxytocin and polymorphisms in the OXTR and CD38 genes. Biological Psychiatry, 72(3), 175–181. PubMed

Franke, A., McGovern, D. P., Barrett, J. C., Wang, K., Radford-Smith, G. L., Ahmad, T., et al. (2010). Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci. Nature Genetics, 42(12), 1118. PubMedPubMedCentral

Gorrindo, P., Williams, K. C., Lee, E. B., Walker, L. S., McGrew, S. G., & Levitt, P. (2012). Gastrointestinal dysfunction in autism: Parental report, clinical evaluation, and associated factors. Autism Research, 5(2), 101–108. PubMedPubMedCentral

Hernández-Bello, J., Palafox-Sanchez, C. A., García-Arellano, S., Reyes-Castillo, Z., Pereira-Suárez, A. L., Parra-Rojas, I., et al. (2018). Association of extrapituitary prolactin promoter polymorphism with disease susceptibility and anti-RNP antibodies in Mexican patients with systemic lupus erythematosus. Archives of Medical Science, 14(5), 1025. PubMed

Higashida, H., Yokoyama, S., Kikuchi, M., & Munesue, T. (2012). CD38 and its role in oxytocin secretion and social behavior. Hormones and Behavior, 61(3), 351–358. PubMed

Hofmann, S., Laass, M., Fehrs, A., Schuppan, D., Zevallos, V., Salminger, D., et al. (2018). IL10 promoter haplotypes may contribute to altered cytokine expression and systemic inflammation in celiac disease. Clinical Immunology, 190, 15–21. PubMed

Hovey, D., Zettergren, A., Jonsson, L., Melke, J., Anckarsäter, H., Lichtenstein, P., et al. (2014). Associations between oxytocin-related genes and autistic-like traits. Social Neuroscience, 9(4), 378–386. PubMed

İşeri, S. Ö., Şener, G., Sağlam, B., Gedik, N., Ercan, F., & Yeğen, B. Ç. (2005). Oxytocin ameliorates oxidative colonic inflammation by a neutrophil-dependent mechanism. Peptides, 26(3), 483–491. PubMed

Ivanova, S. A., Osmanova, D. Z., Boiko, A. S., Pozhidaev, I. V., Freidin, M. B., Fedorenko, O. Y., et al. (2017). Prolactin gene polymorphism (− 1149 G/T) is associated with hyperprolactinemia in patients with schizophrenia treated with antipsychotics. Schizophrenia Research, 182, 110–114. PubMed

Izcue, A., Coombes, J. L., & Powrie, F. (2006). Regulatory T cells suppress systemic and mucosal immune activation to control intestinal inflammation. Immunological Reviews, 212(1), 256–271. PubMed

Jacob, S., Brune, C. W., Carter, C., Leventhal, B. L., Lord, C., & Cook, E. H., Jr. (2007). Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neuroscience Letters, 417(1), 6–9. PubMedPubMedCentral

Jeste, D., Lieberman, J. A., Fassler, D., & Peele, R. (2013). Diagnostic and Statistical Manuel of Mental Disorders DSM-5 (5th ed.). Washington, DC: American Psychiatric Publishing.

Jiang, X., Matson, J. L., Cervantes, P. E., Matheis, M., & Burns, C. O. (2017). Gastrointestinal issues in infants and children with autism and developmental delays. Journal of Developmental and Physical Disabilities, 29(3), 407–417.

Kim, J., Kim, Y., & Lee, K.-A. (2014). Ethnic differences in gastric cancer genetic susceptibility: Allele flips of interleukin gene. World Journal of Gastroenterology, 20(16), 4558. PubMedPubMedCentral

Laugsand, E. A., Fladvad, T., Skorpen, F., Maltoni, M., Kaasa, S., Fayers, P., et al. (2011). Clinical and genetic factors associated with nausea and vomiting in cancer patients receiving opioids. European Journal of Cancer, 47(11), 1682–1691. PubMed

Lee, Y. H., Bae, S.-C., & Song, G. G. (2015). Meta-analysis of associations between functional prolactin − 1149 G/T polymorphism and susceptibility to rheumatoid arthritis and systemic lupus erythematosus. Clinical Rheumatology, 34(4), 683–690. PubMed

Lee, Y. C., Raychaudhuri, S., Cui, J., De Vivo, I., Ding, B., Alfredsson, L., et al. (2009). The PRL–1149 G/T polymorphism and rheumatoid arthritis susceptibility. Arthritis and Rheumatism, 60(5), 1250–1254. PubMedPubMedCentral

Leibbrand, R., Cuntz, U., & Hiller, W. (2002). Assessment of functional gastrointestinal disorders using the Gastro-Questionnaire. International Journal of Behavioral Medicine, 9(2), 155–172. PubMed

Li, X., Yang, H., Duan, Z., Chang, Q., Wei, X., Li, C., et al. (2018). A case series study of hypopituitarism in older patients with and without gastrointestinal symptoms. Postgraduate Medicine, 130(5), 501–506. PubMed

Liu, Y. J., Guo, Y. F., Zhang, L. S., Pei, Y. F., Yu, N., Yu, P., et al. (2010). Biological pathway-based genome-wide association analysis identified the vasoactive intestinal peptide (VIP) pathway important for obesity. Obesity (Silver Spring), 18(12), 2339–2346.

Lopez Vicchi, F., & Becu-Villalobos, D. (2017). Prolactin: The bright and the dark side. Endocrinology, 158(6), 1556–1559. PubMed

Lv, H., Jiang, Y., Li, J., Zhang, M., Shang, Z., Zheng, J., et al. (2014). Association between polymorphisms in the promoter region of interleukin-10 and susceptibility to inflammatory bowel disease. Molecular Biology Reports, 41(3), 1299–1310. PubMed

Miteva, L. D., Stanilov, N. S., Deliysky, T. S., & Stanilova, S. A. (2014). Significance of − 1082A/G polymorphism of IL10 gene for progression of colorectal cancer and IL-10 expression. Tumor Biology, 35(12), 12655–12664. PubMed

Munesue, T., Yokoyama, S., Nakamura, K., Anitha, A., Yamada, K., Hayashi, K., et al. (2010). Two genetic variants of CD38 in subjects with autism spectrum disorder and controls. Neuroscience Research, 67(2), 181–191. PubMed

National Center for Biotechnology Information. (2014). SNP FAQ archive. Clustered RefSNPs (rs) and other data computed in house. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK44417/.

Ohlsson, B., Truedsson, M., Djerf, P., & Sundler, F. (2006). Oxytocin is expressed throughout the human gastrointestinal tract. Regulatory Peptides, 135(1–2), 7–11. PubMed

Park, J., Ro, M., Pyun, J.-A., Nam, M., Bang, H. J., Yang, J. W., et al. (2014). MTHFR 1298A > C is a risk factor for autism spectrum disorder in the Korean population. Psychiatry Research, 215(1), 258. PubMed

Parker, K. J., Garner, J. P., Libove, R. A., Hyde, S. A., Hornbeak, K. B., Carson, D. S., et al. (2014). Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder. Proceedings of the National Academy of Sciences, 111(33), 12258–12263.

Peuskens, J., Pani, L., Detraux, J., & De Hert, M. (2014). The effects of novel and newly approved antipsychotics on serum prolactin levels: A comprehensive review. CNS Drugs, 28(5), 421–453. PubMedPubMedCentral

Prosperi, M., Santocchi, E., Balboni, G., Narzisi, A., Bozza, M., Fulceri, F., et al. (2017). Behavioral phenotype of ASD preschoolers with gastrointestinal symptoms or food selectivity. Journal of Autism and Developmental Disorders, 47(11), 3574–3588. PubMed

Rijlaarsdam, J., van IJzendoorn, M. H., Verhulst, F. C., Jaddoe, V. W., Felix, J. F., Tiemeier, H., et al. (2017). Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation, and child autistic traits: The moderating role of OXTR rs53576 genotype. Autism Research, 10(3), 430–438. PubMed

Rotondo, A., Mazzanti, C., Dell’Osso, L., Rucci, P., Sullivan, P., Bouanani, S., et al. (2002). Catechol o-methyltransferase, serotonin transporter, and tryptophan hydroxylase gene polymorphisms in bipolar disorder patients with and without comorbid panic disorder. American Journal of Psychiatry, 159(1), 23–29. PubMed

Seretis, C., Seretis, F., Liakos, N., Pappas, A., Keramidaris, D., Gourgiotis, S., et al. (2011). Constipation-predominant irritable bowel syndrome associated to hyperprolactinemia. Case Reports in Gastroenterology, 5(3), 523–527. PubMedPubMedCentral

Singh, R., Ghoshal, U. C., Kumar, S., & Mittal, B. (2017). Genetic variants of immune-related genes IL17F and IL10 are associated with functional dyspepsia: A case–control study. Indian Journal of Gastroenterology, 36(5), 343–352. PubMed

Strauss, J. S., Freeman, N. L., Shaikh, S. A., Vetró, Á., Kiss, E., Kapornai, K., et al. (2010). No association between oxytocin or prolactin gene variants and childhood-onset mood disorders. Psychoneuroendocrinology, 35(9), 1422–1428. PubMedPubMedCentral

Tadić, A., Elsässer, A., Storm, N., Baade, U., Wagner, S., Basşkaya, Ö., et al. (2010). Association analysis between gene variants of the tyrosine hydroxylase and the serotonin transporter in borderline personality disorder. The World Journal of Biological Psychiatry, 11(1), 45–58. PubMed

Tost, H., Kolachana, B., Hakimi, S., Lemaitre, H., Verchinski, B. A., Mattay, V. S., et al. (2010). A common allele in the oxytocin receptor gene (OXTR) impacts prosocial temperament and human hypothalamic-limbic structure and function. Proceedings of the National Academy of Sciences, 107(31), 13936–13941.

Treadwell, E. L., Wiley, K., Word, B., Melchior, W., Tolleson, W. H., Gopee, N., et al. (2015). Prolactin and dehydroepiandrosterone levels in women with systemic lupus erythematosus: The role of the extrapituitary prolactin promoter polymorphism at − 1149G/T. Journal of Immunology Research, 1, 2. https://doi.org/10.1155/2015/435658. CrossRef

Walter, S. A., Aardal-eriksson, E., Thorell, L.-H., Bodemar, G., & Hallböök, O. (2006). Pre-experimental stress in patients with irritable bowel syndrome: High cortisol values already before symptom provocation with rectal distensions. Neurogastroenterology and Motility, 18(12), 1069–1077. PubMed

Welch, M. G., Anwar, M., Chang, C. Y., Gross, K. J., Ruggiero, D. A., Tamir, H., et al. (2010). Combined administration of secretin and oxytocin inhibits chronic colitis and associated activation of forebrain neurons. Neurogastroenterology and Motility, 22(6), 654. PubMedPubMedCentral

Welch, M. G., Margolis, K. G., Li, Z., & Gershon, M. D. (2014). Oxytocin regulates gastrointestinal motility, inflammation, macromolecular permeability, and mucosal maintenance in mice. American Journal of Physiology-Heart and Circulatory Physiology., 307(8), G848–G862.

Wu, W., Sun, M., Zhang, H.-P., Chen, T., Wu, R., Liu, C., et al. (2014). Prolactin mediates psychological stress-induced dysfunction of regulatory T cells to facilitate intestinal inflammation. Gut, 63(12), 1883–1892. PubMedPubMedCentral

Yrigollen, C. M., Han, S. S., Kochetkova, A., Babitz, T., Chang, J. T., Volkmar, F. R., et al. (2008). Genes controlling affiliative behavior as candidate genes for autism. Biological Psychiatry, 63(10), 911–916. PubMedPubMedCentral

Zhang, R., Zhang, H.-F., Han, J.-S., & Han, S.-P. (2017). Genes related to oxytocin and arginine-vasopressin pathways: Associations with autism spectrum disorders. Neuroscience Bulletin, 33(2), 238–246. PubMedPubMedCentral

Titel: Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism
Auteurs: A. E. Shindler
E. L. Hill-Yardin
S. Petrovski
N. Bishop
A. E. Franks
Publicatiedatum: 18-09-2019
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 1/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-019-04231-6

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