Browse > Article
http://dx.doi.org/10.5765/jkacap.2010.21.1.017

No Association Between Single Nucleotide Polymorphisms in Distal-Less Homeobox-6 (DLX6) and Autism Spectrum Disorders (ASD) from the Korean Male Population  

Kim, Hyoun-Geun (Medical Genomics Lab, CHA Research Institute, CHA University)
Won, Seong-Sik (Medical Genomics Lab, CHA Research Institute, CHA University)
Lee, Seung-Ku (Medical Genomics Lab, CHA Research Institute, CHA University)
Nam, Min (Department of Psychology, Ewha Womans University)
Bang, Hee-Jung (Department of Psychology, Ewha Womans University)
Park, Hyun-Jung (Department of Psychology, Ewha Womans University)
Yoon, Jin-Young (Department of Psychology, Ewha Womans University)
Choi, Kyung-Sik (Department of Elementary Special Education, College of Social Science, Joongbu University)
Hong, Mee-Sook (Department of Pharmacology, Kohwang Medical Research Institute, Kyung Hee University)
Chung, Joo-Ho (Department of Pharmacology, Kohwang Medical Research Institute, Kyung Hee University)
Kwack, Kyu-Bum (Medical Genomics Lab, CHA Research Institute, CHA University)
Publication Information
Journal of the Korean Academy of Child and Adolescent Psychiatry / v.21, no.1, 2010 , pp. 17-22 More about this Journal
Abstract
Objectives : Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by abnormalities of social functioning, communication and behavior. The association of the 7q21-34 region with ASD has been reported. The DLX6 gene, which is located at the 7q22 region, is one of the positional and functional candidate genes for ASD. We found that there is no association between DLX6 polymorphisms and ASD in the Korean male population. Methods : We selected three single nucleotide polymorphisms (SNPs) that might be implicated in the change of the DLX6 gene expression. The genomic DNA was collected from the venous blood of 147 male controls and 179 male patients with ASD. The genotypes of the selected SNPs were determined using the Illumina GoldenGate assay, and the statistical analyses were performed using HapAnalyzer software and SAS Enterprise. Results : We found no association of the three SNPs in the DLX6 gene with ASD in the Korean male population. Conclusion : Our study suggests that the three SNPs in the DLX6 gene are not associated with ASD, and we need to analyze the previously reported regions for their associations with ASD.
Keywords
Autism Spectrum Disorders; ASD; DLX6; SNP;
Citations & Related Records
Times Cited By KSCI : 1  (Citation Analysis)
연도 인용수 순위
1 Hedrick PW. Gametic disequilibrium measures: proceed with caution. Genetics 1987;117:331-341.
2 Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-2229.   DOI   ScienceOn
3 Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265.   DOI   ScienceOn
4 Jung HY, Park JS, Park YJ, Kim YJ, Kim K, Koh I. Hap- Analyzer: Minimum Haplotype Analysis System for Association Studies. Genomics Inform 2004;2:107-109.   과학기술학회마을
5 Nabi R, Zhong H, Serajee FJ, Huq AH. No association between single nucleotide polymorphisms in DLX6 and Piccolo genes at 7q21-q22 and autism. Am J Med Genet B Neuropsychiatr Genet 2003;119:98-101.
6 Hamilton SP, Woo JM, Carlson EJ, Ghanem N, Ekker M, Rubenstein JL. Analysis of four DLX homeobox genes in autistic probands. BMC Genetics 2005;6:52.   DOI   ScienceOn
7 Merlo GR, Zerega B, Paleari L, Trombino S, Mantero S, Levi G. Multiple functions of Dlx genes. Int J Dev Biol 2000;44:619-626.
8 Simeone A, Acampora D, Pannese M, D'Esposito M, Stornaiuolo A, Gulisano M, et al. Cloning and characterization of two members of the vertebrate Dlx gene family. Pro Nati Acad Sci USA 1994;91:2250-2254.   DOI
9 Kohwi M, Petryniak MA, Long JE, Ekker M, Obata K, Yanagawa Y, et al. A subpopulation of olfactory bulb GABAergic interneurons is derived from Emx1- and Dlx5/6-expressing progenitors. J Neurosci 2007;27:6878-6891.   DOI   ScienceOn
10 Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 2005;37:31-40.   DOI   ScienceOn
11 Qiu M, Bulfone A, Ghattas I, Meneses JJ, Christensen L, Sharpe PT, et al. Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches. Dev Biol 1997;185:165-184.   DOI   ScienceOn
12 Bulfone A, Kim HJ, Puelles L, Porteus MH, Grippo JF, Rubenstein JL. The mouse Dlx-2 (Tes-1) gene is expressed in spatially restricted domains of the forebrain, face and limbs in midgestation mouse embryos. Mech Dev 1993;40:129-140.   DOI   ScienceOn
13 Depew MJ, Liu JK, Long JE, Presley R, Meneses JJ, Pedersen RA, et al. Dlx5 regulates regional development of the branchial arches and sensory capsules. Development 1999;126: 3831-3846.
14 Grabe N. AliBaba2: context specific identification of transcription factor binding sites. In Silico Biol 2002;2:S1-S15.
15 Liu JK, Ghattas I, Liu S, Chen S, Rubenstein JL. Dlx genes encode DNA-binding proteins that are expressed in an overlapping and sequential pattern during basal ganglia differentiation. Dev Dyn 1997;210:498-512.   DOI
16 American Psychiatric Association. Diagnostic and Statistical Manual for Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association Press;1994.
17 Chlebowski C, Green JA, Barton ML, Fein D. Using the Childhood Autism Rating Scale to Diagnose Autism Spectrum Disorders. J Autism Dev Disord. In Press;2010.   DOI
18 Fan JB, Oliphant A, Shen R, Kermani BG, Garcia F, Gunderson KL, et al. Highly parallel SNP genotyping. Cold Spring Harb Symp Quant Biol 2003;68:69-78.   DOI
19 Shen R, Fan JB, Campbell D, Chang W, Chen J, Doucet D, et al. High-throughput SNP genotyping on universal bead arrays. Mutat Res 2005;573:70-82.   DOI   ScienceOn
20 Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995;25:63-77.   DOI
21 Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH, et al. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 1995;57: 717-726.
22 Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, et al. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999;65:493-507.   DOI   ScienceOn
23 Maestrini E, Paul A, Monaco AP, Bailey A. Identifying autism susceptibility genes. Neuron 2000;28:19-24.   DOI   ScienceOn
24 Folstein SE, Rosen-Sheidley B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2001;2: 943-955.   DOI   ScienceOn
25 IMGSAC. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 2001;10:973-982.   DOI   ScienceOn
26 Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS, et al. Defining the autism minimum candidate gene region on chromosome 7. Am J Med Genet B Neuropsychiatr Genet 2003;117B:90-96.   DOI   ScienceOn
27 Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, et al. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet 1999;8:805-812.   DOI   ScienceOn
28 Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, et al. Genetic studies of autistic disorder and chromosome 7. Genomics 1999;61:227-236.   DOI   ScienceOn
29 Fombonne E. The epidemiology of autism: a review. Psychol Med 1999;29:769-786.   DOI   ScienceOn
30 Gillberg C, Wing L. Autism: not an extremely rare disorder. Acta Psychiatr Scand 1999;99:399-406.   DOI   ScienceOn
31 Kaminsky Z, Wang SC, Petronis A. Complex disease, gender and epigenetics. Ann Med 2006;38:530-544.   DOI   ScienceOn
32 Folstein S, Rutter M. Genetic influences and infantile autism. Nature 1977;265:726-728.   DOI   ScienceOn
33 Folstein S, Rutter M. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977;18:297-321.   DOI
34 Schule B, Li HH, Fisch-Kohl C, Purmann C, Francke U. DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Am J Hum Genet 2007;81:492-506.   DOI   ScienceOn
35 Davidovitch M, Patterson B, Gartside P. Head circumference measurements in children with autism. J Child Neurology 1996; 11:389-393.   DOI
36 Altmuller J, Palmer LJ, Fischer G, Scherb H, Wjst M. Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet 2001;69:936-950.   DOI   ScienceOn
37 Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Reviews 2005;6:95- 108.