Abstract
Discs-large-related 3 (DLG3), a member of the membrane-associated guanylate kinases (MAGUKs) protein family, playing an important role in regulating NMDA signal pathway and contributing to synaptic plasticity, may have an influence on the susceptibility of non-syndromic mental retardation (NSMR). To investigate the possible genetic contribution of DLG3 gene to the NSMR of Chinese Han population, we performed an association study of 556 subjects (118 NSMR, 116 borderline NSMR, and 322 controls in 275 males and 281 females) from Qin-Ba mountain region of Shaanxi province in the northwest of China by five common SNPs in the gene. The results showed that there was no positive association between the genetic variations of DLG3 and NSMR. In conclusion, the results of this study indicated that DLG3 did not associate with NSMR in Chinese Han population; however, further studies are needed.
Similar content being viewed by others
References
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265
Bliss TV, Collingridge GL (1993) A synaptic model of memory: long-term potentiation in the hippocampus. Nature 361:31–39
Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, Graham JM Jr, Jones MC, Kaback MM, Moeschler J, Schaefer GB, Schwartz S, Tarleton J, Opitz J (1997) Evaluation of mental retardation: recommendations of a consensus conference: American College of Medical Genetics. Am J Med Genet 72:468–477
Faul F, Erdfelder E, Lang AG, Buchner A (2007) G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods 39:175–191
Gong YX, Cai TS (1993) Wechsler intelligence scale for children (C-WISC). Map Press, Hunan
Gong YX, Dai XY (1992) Chinese-Wechsler young children scale of intelligence (C-WYCSI). Map Press, Hunan
Jee S (2001). Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York
Makino K, Kuwahara H, Masuko N, Nishiyama Y, Morisaki T, Sasaki J, Nakao M, Kuwano A, Nakata M, Ushio Y, Saya H (1997) Cloning and characterization of NE-dlg: a novel human homolog of the Drosophila discs large (dlg) tumor suppressor protein interacts with the APC protein. Oncogene 14:2425–2433
Masuko N, Makino K, Kuwahara H, Fukunaga K, Sudo T, Araki N, Yamamoto H, Yamada Y, Miyamoto E, Saya H (1999) Interaction of NE-dlg/SAP102, a neuronal and endocrine tissue-specific membrane-associated guanylate kinase protein, with calmodulin and PSD-95/SAP90. A possible regulatory role in molecular clustering at synaptic sites. J Biol Chem 274:5782–5790
Mclaren J, Bryson SE (1987) Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard 92:243–254
Muller BM, Kistner U, Kindler S, Chung WJ, Kuhlendahl S, Fenster SD, Lau LF, Veh RW, Huganir RL, Gundelfinger ED, Garner CC (1996) SAP102, a novel postsynaptic protein that interacts with NMDA receptor complexes in vivo. Neuron 17:255–265
Newcombe RG (1998) Interval estimation for the difference between independent proportions: comparison of eleven methods. Stat Med 17:873–890
Organization TWH (1992) The ICD-10 classification of mental and behavioral disorders: clinical descriptions and diagnostic guidelines. WHO, Geneva
Sham PC, Curtis D (1995) Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 59:97–105
Stathakis DG, Hoover KB, You Z, Bryant PJ (1997) Human postsynaptic density-95 (PSD95): location of the gene (DLG4) and possible function in non-neural as well as in neural tissues. Genomics 44:71–82
Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O’meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL (2004) Mutations in the DLG3 gene cause non-syndromic X-linked mental retardation. Am J Hum Genet 75:318–324
Zanni G, Van Esch H, Bensalem A, Saillour Y, Poirier K, Castelnau L, Ropers HH, De Brouwer AP, Laumonnier F, Fryns JP, Chelly J (2010) A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics 11:251–255
Zhang FC, Li RL, Gao XC, Zheng ZJ, Huang SP, Song HY, Xi H, Li F (2004) An investigation of mental retarded children aged 0–14 in Qinba mountain areas. J Fourth Mil Med Univ 06:36–39
Zhang KJ, Zhang FC, Zheng ZJ, Gong PY, He G, Nan YP, Zhang R, Ma J (2005) An analysis of inheriting type of non-causing mental retardation children in Zhashui experimental station. J Northwest Univ 35:4
Zhang SM, Zhang FC, Gong PY, Zhang KJ, Yang XZ, He G, Li N (2006) The discussion of inheriting type of mental retardation in AnKang experimental station. J Northwest Univ 35:4
Zuo QH, Zhang ZX, Lei ZW (1988) Adaptive scale of infant and children. Medical University of China, Beijing, pp 9–69
Zuo QH, Lei ZW, Zhang ZX (1994) An epidemiological study on etiology of mental retardation. Natl Med J China 74:134–137
Acknowledgments
The authors would like to thank all the participants and researchers in this study, in respect of their invaluable discussions and critical comments. This study was supported by grants from the National Key Technology Research and Development Program of China during the “10th Five-Year Plan” (2001BA901A49), and the Key Science and Technology Program of Shaanxi Province, China (2009K01-58).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Han, N., Shi, Z., Zhang, K. et al. Polymorphisms in the DLG3 Gene is not Associated with Non-Syndromic Mental Retardation in the Chinese Han Population of Qin-Ba Mountain. Cell Mol Neurobiol 31, 695–700 (2011). https://doi.org/10.1007/s10571-011-9666-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10571-011-9666-5