题名

Genetic Studies of Autism Spectrum Disorder in Asians

并列篇名

自閉症類群障礙症的遺傳學在亞洲的研究

作者

蔡逸周(Luke Y. Tsai)

关键词

候選基因 ； 全基因體 ； 拷貝數變異 ； 種族差異 ； candidate gene ； genome wide ； copy number variation ； ethnic difference

期刊名称

台灣精神醫學

卷期/出版年月

29卷3期（2015 / 09 / 01）

页次

139 - 154+i

内容语文

英文
中文摘要

自閉症類群障礙症的遺傳學研究已經發展了三十多年，早期的孿生子與家庭研究為自閉症類群障礙症發展中的遺傳學角色提供了許多證據，而更多近期的分子學研究技術則已辨識出超過400個在自閉症類群障礙症致病機轉中潛在相關的基因，但這些基因中有許多也同時被發現與其他的神經精神疾病相關。這三十餘年來的遺傳學領域研究結果認為，自閉症類群障礙症作為一種異質性的臨床疾病，也有著異質性的遺傳學致病因子。本篇綜述主要聚焦於種族差異在異質性遺傳學致病因子中的所扮演的潛在角色。在本篇綜述中，作者企圖蒐集所有可得且已發表之亞洲人種的自閉症類群障礙症遺傳學研究，以從中找出未來比較亞洲與西方關於自閉症類群障礙症遺傳學研究的方向。本篇的結論是，亞洲關於自閉症類群障礙症遺傳學研究的數量仍相當有限，但其中已有部分研究發現某些自閉症類群障礙症的候選基因確實存在種族差異。
英文摘要

The genetics of autism spectrum disorder (ASD) has been studied for more than three decades. Earlier twin and family studies have provided some support for a genetic role in the development of ASD. More recent molecular techniques have identified more than 400 potential genes involved in etiology of ASD. But many of the genes have also been identified as potential genes for other neuropsychiatric disorders. The field of ASD genetics has concluded that ASD as defined for the last three decades is a heterogeneous clinical disorder with heterogeneous genetic etiologies. This overview is to focus on the ethnic differences as a potential factor of the heterogeneous etiologies. In this overview, the author attempts to compile all available published ASD genetic studies in Asian populations to explore the directions for future comparisons between Asian and Western ASD genetic studies. It is concluded that the quantity of the Asian ASD genetic studies is still quite limited, though there are a few studies indeed have found some ethnic differences in certain candidate genes for ASD.
主题分类 醫藥衛生 > 社會醫學
参考文献
  1. Benvenuto, A,Marciano, S,Capuano, I,Curatolo, P(2013).An update on autism spectrum disorders in children.Minerva Pediatrica,65,19-36.
  2. Bespalova, IN,Buxbaum, JD(2003).Disease susceptibility genes for autism.Ann Med,35,274-281.
  3. Chen, CH,Huang, CC,Cheng, MC(2014).Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.Mol Autism,5,36.
  4. Chen, CP,Lin, SP,Chern, SR(2010).Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-- q24.3 in a girl with autistic features and developmental delay.Eur J Med Genet,53,217-220.
  5. Chen, CP,Lin, SP,Su, JW,Lee, MS,Wang, W(2012).Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder.Genet Counsel,23,335-338.
  6. Chen, FS,Johnson, SC(2012).An oxytocin receptor gene variant predicts attachment anxiety in females and autism-spectrum traits in males.Soc Psychol Person,3,93-99.
  7. Chien, W-H,Gau, SS-F,Wu, Y-Y(2010).Identifi cation and molecular characterization of two novel chromosomal deletions associated with autism.Clin Genet,78,449-456.
  8. Chien, WH,Wu, YY,Gau, SS(2010).Association study of theSLC25A12 gene and autism in Han Chinese in Taiwan.Prog Neuropsychopharmacol Biol Psychiatry,34,189-192.
  9. Chien, Y-L,Wu, Y-Y,Chiu, Y-N(2011).Association study of the CNS patterning genes and autism in Han Chinese in Taiwan.Prog Neuropsychopharmacol Biol Psychiatry,35,1512-1517.
  10. Cho, IH,Yoo, HJ,Park, M,Lee, YS,Kim, SA(2007).Familybased association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios.Brain Res,1139,34-41.
  11. Chung, BH,Drmic, I,Marshall, CR(2011).Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes autism spectrum disorder.Eur J Med Genet,54,e516-e520.
  12. Chung, S,Hong, JP,Yoo, HK(2007).Association of the DAO and DAOA gene polymorphisms with autism spectrum disorders in boys in Korea: a preliminary study.Psychiatry Res,153,179-182.
  13. Coppen, A(ed.),Walk, A(ed.)(1967).Recent Developments in Schizophrenia: A Symposium.British Journal of Psychiatry,Special Publication 1,133-158.
  14. Curran, S,Roberts, S,Thomas, S(2005).An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet,137B,25-25.
  15. Dang, W,Zhang, Q,Zhu, YS,Lu, XY(2014).The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility.J Mol Neurosci,54,811-819.
  16. Devlin, B,Scherer, SW(2012).Genetic architecture in autism spectrum disorder.Current Opin Genet Devel,22,229-237.
  17. Freitag, CM,Staal, W,Klauck, SM,Duketis, E,Waltes, R(2010).Genetics of autistic disorders: review and clinical implications.Eur Child Adoles Psychiatry,19,169-178.
  18. Gau, SS-F,Chou, M-C,Lee, J-C(2010).Behavioral problems and parenting style among Taiwanese children with autism and their siblings.Psychiatry Clin Neurosci,64,70-78.34.
  19. Gau, SS-F,Liao, H-M,Hong, C-C,Chien, W-H,Chen, C-H(2012).Identifi cation of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism.Am J Med Genet B Neuropsychiatr Genet,159B,710-717.
  20. Gazzellone, MJ,Zhou, X,Lionel, AC(2014).Copy number variation in Han Chinese individuals with autism spectrum disorder.J Neurodev Disord,6,34.
  21. Geschwind, DH(2011).Genetics of autism spectrum disorders.Trends Cogn Sci,15,409-416.
  22. Guerra, DJ(2011).The molecular genetics of autism spectrum disorder: genomic mechanisms, neuroimmunopathology, and clinical implications.Autism Res Treat,2011,1-16.
  23. Guo, H,Hu, Z,Zhao, J,Xia, K(2011).Genetics of autism spectrum disorders.Journal of Central South University,36,703-711.
  24. Guo, T,Chen, H,Liu, B,Ji, W,Yang, C(2012).Methylenetetrahydrofolate reductase polymorphisms C677T and risk of autism in the Chinese Han population.Genet Test Mol Biomark,16,968-973.
  25. Guo, T,Wang, W,Liu, B,Chen, H,Yang, C(2013).CatecholO-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders.J Int Med Res,4,725-734.
  26. Hanson, DR,Gottesman, I(1976).The genetics, if any, of infantile autism and childhood schizophrenia.J Autism Childhood Schizophrenia,6,209-234.
  27. He, Y,Xun, G,Xia, K(2011).No signifi cant association between RELN polymorphism and autism in case–control and family-based association study in Chinese Han population.Psychiatry Res,187,462-464.
  28. Heil, KM,Schaaf, CP(2013).The genetics of Autism Spectrum Disorders-a guide for clinicians.Curr Psychiatry Report,15,334.
  29. Iossifov, I,Ronemus, M,Levy, D(2012).De novo gene disruptions in children on the autistic spectrum.Neuron,74,285-299.
  30. Ishijima, M,Kurita, H(2007).Brief report: identical male twins concordant for Asperger’s disorder.J Autism Develop Disord,37,386-389.
  31. Jiao, Y,Chen, R,Ke, X(2012).Single nucleotide polymorphisms predict symptom severity of autism spectrum disorder.J Autism Dev Disord,42,971-983.
  32. Kanner L: Autistic disturbances of affective contact. Nervous Child, 1943; 2: 217-50.
  33. Kawamura, Y,Liu, X,Shimada, T(2011).Association between oxytocin receptor gene polymorphisms and autistic traits as measured by the AutismSpectrum Quotient in a non-clinical Japanese population.Asia-Pac Psychiatry,3,128-136.
  34. Kim, SA,Kim, JH,Park, M(2007).Familybased association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios.Neurosci Res,58,332-335.
  35. Kim, SA,Kim, JH,Park, M,Cho, IH,Yoo, HJ(2006).Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios.Neuropsychobiology,54,160-165.
  36. Klauck, SM(2006).Genetics of autism spectrum disorder.Eur J Hum Genet,14,714-720.
  37. Kumar, A,Swanwick, CC,Johnson, N(2011).A brain region-specifi c predictive gene map for autism derived by profi ling a reference gene set.PLoS One,6,e28431.
  38. Li, H,Li, Y,Shao, J(2008).The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.Am J Med Genet Part B Neuropsychiatric Genet,147B,194-200.
  39. Li, J,Liu, J,Zhao, L(2013).Association study between genes in Reelin signaling pathway and autism identifi es DAB1 as a susceptibility gene in a Chinese Han population.Prog Neuropsychopharmacol Biol Psychiatry,44,226-232.
  40. Li, J,Zhao, L,You, Y(2015).Schizophrenia related variants in CACNA1C also confer risk of autism.PLoS One,10,e0133247.
  41. Li, S-Y,Chen, Y-C,Lai, T-J(1993).Molecular and cytogenetic analyses of autism in Taiwan.Hum Genet,92,441-445.
  42. Li, X,Hu, Z,He, Y(2010).Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population.Psychiatric Genetics,20,113-117.
  43. Liang, JS,Shimojima, K,Ohno, K(2009).A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.J Med Genet,46,645-647.
  44. Liang, S,Wang, XL,Zou, MY(2014).Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.J Zhejiang Univ Sci B,15,264-271.
  45. Liao, H-M,Gau, SS-F,Tsai, W-C(2013).Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.Am J Med Genet Part B,162B,734-741.
  46. Lin, PI,Chien, YL,Wu, YY(2012).The WNT2 gene polymorphism associated with speech delay inherent to autism.Res Dev Disabil,33,1533-1540.
  47. Lin, PI,Kuo, PH,Chen, CH(2013).Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.PLoS One,8,e72056.
  48. Liu, J,Yang, A,Zhang, Q(2015).Association between genetic variants in SLC25A12 and risk of autism spectrum disorders: An integrated meta-analysis.Am J Med Genet B Neuropsychiatr Genet,168B,236-246.
  49. Liu, X,Kawamura, Y,Shimada, T(2010).Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.J Hum Genet,55,137-141.
  50. Liu, Y,Du, Y,Liu, W(2013).Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.PLoS One,8,e56639.
  51. Liu, Y,Hu, Z,Xun, G(2012).Mutation analysis of the NRXN1 gene in a Chinese autism cohort.J Psychiatr Res,46,630-634.
  52. Losh, M,Sullivan, PF,Trembath, D,Piven, J(2008).Current development in the genetics of autism: from phenome to genome.J Neuropaththol Exp Neurology,67,829-837.
  53. Ma, WJ,Hashii, M,Munesue, T(2013).Nonsynonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese population and functional analysis.Mol Autism,4,22.
  54. Maekawa, M,Iwayama, Y,Arai, R(2010).Polymorphism screening of brain-expressed FABP7, 5 and 3 genes and association studies in autism and schizophrenia in Japanese subjects.J Hum Genet,55,127-130.
  55. Martin, ER,Menold, MM,Wolpert, CM(2000).Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.Am J Med Genet,96,43-48.
  56. Marui, T,Funatogawa, I,Koishi, S(2011).The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.Acta Psychiatr Scand,123,118-124.
  57. Marui, T,Koishi, S,Funatogawa, I(2005).No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.Neurosci Res,53,91-94.
  58. Muhle, R,Trentacoste, SV(2004).Rapin I: The genetics of autism.Pediatrics,113,e472.
  59. Munesue, T,Yokoyama, S,Nakamura, K(2010).Two genetic variants of CD38 in subjects with autism spectrum disorder and controls.Neurosci Res,67,181-191.
  60. Munesuea, T,Yokoyama, S,Nakamural, K(2010).Two genetic variants of CD38 in subjects with autism spectrum disorder and controls.Neurosci Res,67,181-191.
  61. Nakashima, N,Yamagata,Mori, M(2010).Expression analysis and mutation detection of DLX5 and DLX6 in autism.Brain Devel,32,98-104.
  62. Park, J,Ro, M,Pyun, JA(2014).MTHFR 1298A > C is a risk factor for autism spectrum disorder in the Korean population.Psychiatry Res,215,258-259.
  63. Park, S,Park, JE,Cho, SC(2014).No association of the norepinephrine transporter gene (SLC6A2) and cognitive and behavioural phenotypes of patients with autism spectrum disorder.Eur Arch Psychiatry Clin Neurosci,264,507-515.
  64. Park, Y,Won, S,Nam, M,Chung, JH,Kwack, K(2014).Interaction between MAOA and FOXP2 in association with autism and verbal communication in a Korean population.J Child Neurol,29,NP207-NP211.
  65. Pu, D,Shen, Y,Wu, J(2013).Association between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis.Autism Res,6,384-392.
  66. Qiao, Y,Liu, X,Harvard, C(2008).Autism-associated familial microdeletion of Xp11.22.Clin Genet,74,134-144.
  67. Qin, J,Jia, M,Wang, L(2009).Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.BMC Med Genet,10,61.
  68. Ren, CM,Liang, Y,Wei, F(2013).Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism.Biochim Biophys Acta,1832,431-438.
  69. Ro, M,Park, J,Nam, M(2013).Associations between single-nucleotide polymorphism in the FNDC3A and autism spectrum disorder in a Korean population.Psychiatry Res,209,246-248.
  70. Ro, M,Won, S,Kang, H(2013).Association of the FGA and SLC6A4 genes with autistic spectrum disorder in a Korean population.Neuropsychobiology,68,212-220.
  71. Saito, Y,Suga, M,Tochigi, M(2014).Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene.Soc Cogn Affect Neurosci,9,1443-1450.
  72. Shao, S,Xu, S,Yang, J,Zhang, T,He, Z,Sun, Z,Song, R(2014).A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population.Mol Biol Rep,41,1591-1595.
  73. Shen, Y,Chen, X,Wang, L(2011).Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.Am J Med Genet Part B Neuropsychiatr Genet,156,225-232.
  74. Shimamoto, C,Ohnishi, T,Maekawa, M(2014).Functional characterization of FABP3, 5 and 7 gene variants identifi ed in schizophrenia and autism spectrum disorder and mouse behavioral studies.Hum Mol Genet,23,6495-6511.
  75. Shuang, M,Liu, J,Jia, M(2004).Family-based association study between autism and glutamate receptor 6 gene in Chinese Han trios.Am J Med Genet Part B Neuropsychiatr Genet,131B,48-50.
  76. Smalley, S,Asarnow, R(1988).Autism and genetics: A decade of research.Arch Gen Psychiatry,45,953-961.
  77. Tochigi, M,Chieko, Kato, C,Koishi, S(2007).No evidence for signifi cant association between GABA receptor genes in chromosome 15q11–q13 and autism in a Japanese population.J Hum Genet,52,985-989.
  78. Waga, C,Okamoto, N,Ondo, Y(2011).Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development.Psychiatric Genet,21,208-211.
  79. Wang, L,Jia, M,Yue, W(2008).Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population.Am J Med Genet Part B Neuropsychiatr Genet,147B,434-438.
  80. Wang, L,Li, J,Jia, M(2011).No association of polymorphisms in the CDK5, NDEL1, and LIS1with autism in Chinese Han population.Psychiatry Res,190,369-371.
  81. Wang, P,Carrion, P,Qiao, Y(2013).Genotypephenotype analysis of 18q12.1-q12.2 copy number variation in autism.Eur J Med Genet,56,420-425.
  82. Wang, Z,Hong, Y,Zou, L(2014).Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.Am J Med Genet B Neuropsychiatr Genet,165B,192-200.
  83. Won, H,Mah, W,Kim, E(2013).Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.Front Mol Neurosci,6,1-26.
  84. Wu, S,Guo, Y,Jia, M(2005).Lack of evidence for association between the serotonin transporter gene (SLC6A4) polymorphisms and autism in the Chinese trios.Neurosci Lett,381,1-5.
  85. Wu, S,Jia, M,Yan, Y(2005).Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.Biol Psychiatry,58,74-77.
  86. Xia, K,Guo, H,Hu, Z(2014).Common genetic variants on 1p13.2 associate with risk of autism.Mol Psychiatry,19,1212-1219.
  87. Xing, J,Wang, C,Kimura, H(2014).Resequencing and association analysis of PTPRA, a possible susceptibility gene for schizophrenia and autism spectrum disorders.PLoS One,9,e112531.
  88. Xu, LM,Li, JR,Huang, Y(2012).AutismKB: an evidence-based knowledgebase of autism genetics.Nucleic Acids Research,40,D1016-D1022.
  89. Xu, X,Xiong, Z,Zhang, L(2014).Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.Mol Biol Rep,6,4133-4140.
  90. Yanagi, K,Kaname, T,Wakui, K(2012).Identifi cation of four novel synonymous substitutions in the X-linked genes neuroligin 3 and neuroligin 4X in Japanese patients with autistic spectrum disorder.Autism Res Treat,2012,724072.
  91. Yang, P,Lung, FW,Jong, YJ(2008).Association of the homeobox transcription factor gene ENGRAILED 2 with autistic disorder in Chinese children.Neuropsychobiology,57,3-8.
  92. Yang, P,Shu, BC,Hallmayer, JF,Lung, FW(2010).Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population.Neuropsychobiology,62,104-115.
  93. Yang, SY,Cho, SC,Yoo, HJ(2010).Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders.Neurosci Lett,479,197-200.
  94. Yang, SY,Yoo, HJ,Cho, IH,Park, M,Kim, SA(2012).Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families.Neurosci Res,73,333-336.
  95. Yang, W,Liu, J,Zheng, F(2013).The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population.PLoS One,8,e61021.
  96. Yang, Y,Pan, C(2013).Pan C: Role of metabotropic glutamate re- ceptor 7 in autism spectrum disorders: a pilot study.Life Sci,92,149-153.
  97. Yasuda, Y,Hashimoto, R,Fukai, R(2014).Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series.Ann Gen Psychiatry,13,22.
  98. Yasuda, Y,Hashimoto, R,Yamamori, H(2011).Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder.Mol Autism,2,9.
  99. Yokoyama, S,Al, Mahmuda, N,Munesue, T(2015).Association study between the CD157/BST1 gene and autism spectrum disorders in a Japanese population.Brain Sci,5,188-200.
  100. Yoo, HJ,Cho, IH,Mira, Park,M(2013).Association of the catechol-O-methyltransferase gene polymorphisms with Korean autism spectrum disorders.J Korean Med Sci,28,1403-1406.
  101. Yoo, HJ,Cho, IH,Park, M(2009).No association of SLC6A4 polymorphisms with Korean autism spectrum disorder.Korean J Biol Psychiatry,16,121-126.
  102. Yoo, HK,Chung, S,Hong, JP(2009).Microsatellite marker in gamma – aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios.Yonsei Med J,50,304-306.
  103. Yoo,HJ,Lee, SK,Park, M(2009).Family- and population-based association studies of monoamine oxidase A and autism spectrum disorders in Korean.Neurosci Res,63,172-176.
  104. Yu, H,Liu, J,Yang, A(2015).Lack of association between polymorphisms in DOPA decarboxylase and dopamine receptor-1 genes with childhood autism in Chinese Han population.J Child Neurol,pii,0883073815601496.
  105. Yu, J,He, X,Yao, D(2011).A sex-specifi c association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort.Behav Brain Funct,7,13.
  106. Zhou, X,Xu, Y,Wang, J(2011).Replication of the association of a MET variant with autism in a Chinese Han population.PLoS One,6,e27428.
print cancel