JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES) ›› 2014, Vol. 52 ›› Issue (11): 92-96.doi: 10.6040/j.issn.1671-7554.0.2014.554

Previous Articles     Next Articles

Genome-wide association study of autism in Shandong Province

YANG Shulin1, YANG Fan2, ZHAI Jing3, LIU Jintong3, ZHANG Yan3, CHEN Gang4   

  1. 1. School of Public Health, Taishan Medical University, Taian 271016, Shandong, China;
    2. Department of Pathology, Affiliated Hospital of Taishan Medical University, Taian 271000, Shandong, China;
    3. Department of Children's Psychological Science, Shandong Mental Health Center, Jinan 250014, Shandong, China;
    4. Laboratory of Genetics, Institute of Basic Medicine, Jinan 250062, Shandong, China
  • Received:2014-08-26 Published:2014-11-10
  • Contact: 陈刚.Email:chengang560515@163.com E-mail:chengang560515@163.com

PDF (PC)

226

Abstract: Objective To investigate the genetic loci associated with autism in the population of Shandong Province. Methods Linkage Mapping Set 2.5 including 400 microsatellite markers was used to screen 3 separated DNA pooling samples consisting of 38 autism children, their 75 parents and 1 000 normal controls. CLUMP and SPSS12.0 software were adopted for statistic analysis to compare the difference in allele frequency of each locus between autism children and controls, autism children and parents respectively. Results Significant differences in allele frequency were found at 1p36.31, 4q13.3, 4q35.1 and 7p21.3. Conclusion Genetic loci 1p36.31, 4q13.3, 4q35.1 and 7p21.3 are detected to be associated with autism in the population of Shandong Province, and susceptibility genes may be located around these regions.

Key words: Genome, Genetics, Autism, DNA pooling

CLC Number: 

  • R749.94
[1] 杨树林, 陈刚. 孤独症遗传学研究进展[J]. 精神医学杂志, 2009, 22(1):60-65. YANG Shulin, CHEN Gang. Advances in the genetics of autism [J]. Journal of Psychiatry, 2009, 22(1):60-65.
[2] 吴柏林, 邹小兵, 徐秀.孤独症:从基因组学到临床实践[J]. 中国循证儿科杂志, 2008, 3(4):241-246. WU Bailin, ZOU Xiaobing, XU Xiu. Autism:From genomics to clinical practice [J]. Chin J Evid Based Pediat, 2008, 3(4):241-246.
[3] 武丽杰. 我国孤独症谱系障碍流行病学现状及趋势[J]. 中国实用儿科杂志, 2013, 28(8):571-576. WU Lijie. The present situation and trend of the epidemiology of autism spectrum disorders in China[J]. Chinese Journal of Practical Pediatrics Aug, 2013, 28(8):571-576.
[4] Barcellos L F, Klitz W, Field L L, et al. Association mapping of disease loci, by use of a pooled DNA genomic screen [J]. Am J Hum Genet, 1997, 61(3):734-747.
[5] Coraddu F, Lai M, Mancosu C, et al. A genome-wide screen for linkage disequilibrium in Sardinian multiple sclerosis[J]. J Neuroimmunol, 2003, 143(1-2):120-123.
[6] Goertsches R, Villoslada, Comabella M, et al. A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease [J]. J Neuroimmunol, 2003, 143(1-2):124-128.
[7] Jonasdottir A, Thorlacius T, Fossdal R, et al. A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers [J]. J Neuroimmunol, 2003, 143(1-2):88-92.
[8] Laaksonen M, Jonasdottir A, Fossdal R, et al. A whole genome association study in Finnish multiple sclerosis patients with 3669 markers [J]. J Neuroimmunol, 2003, 143(1-2):70-73.
[9] Liguori M, Sawcer S, Setakis E, et al. A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population [J]. J Neuroimmunol, 2003, 143(1-2):97-100.
[10] Martins Silva B, Thorlacius T, Benediktsson K, et al. A whole genome association study in multiple sclerosis patients from north Portugal[J]. J Neuroimmunol, 2003, 143(1-2):116-119.
[11] Johnson M, Griffiths L R. A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach[J]. J Hum Genet, 2005, 50(12):607-610.
[12] 周鹏, 魏然, 温晓燕, 等. 山东半岛东部地区精神分裂症21号染色体基因扫描研究[J]. 山东精神医学, 2006, 19(4):241-244. ZHOU Peng, WEI Ran, WEN Xiaoyan, et al. Association mapping of schizophrenia loci on chromosome 21, by use of Pooled DNA genomic screen in easten Shandong peninsular [J]. Journal of Psychiatry, 2006, 19(4):241-244.
[13] 魏然, 周鹏, 温晓燕, 等. 山东半岛东部地区精神分裂症8号染色体基因扫描研究[J]. 中国神经精神疾病杂志, 2007, 33(2):77-81. WEI Ran, ZHOU Peng, WEN Xiaoyan, et al. The study on chromosome 8 of schizophrenia in eastern shandong peninsula [J]. Chin J Nerv Ment Di, 2007, 33(2):77-81.
[14] 王博, 张成, 林汝相, 等. 山东省原发性高血压1号染色体基因扫描[J]. 中华高血压杂志, 2008, 16(2):160-165. WANG Bo, ZHANG Cheng, LIN Ruxiang, et al. Mapping of Essential Hypertension Loci on Chromosome 1 by Use of Pooled DNA [J]. Chin J Hypertension, 2008, 16(2):160-165.
[15] 杨树林, 陈刚, 翟静, 等. 山东省孤独症7号染色体基因扫描研究[J]. 精神医学杂志, 2009, 22(1):1-4. YANG Shulin, CHEN Gang, ZHAI Jing, et al. Mapping of autism loci on chromosome7 by use of pooled DNA [J]. Journal of Psychiatry, 2009, 22(1):1-4.
[16] 栾萌, 陈刚, 周鹏, 等. 山东省双向情感障碍6号染色体基因扫描研究[J]. 精神医学杂志, 2010, 23(3):161-164. LUAN Meng, CHEN Gang, ZHOU Peng, et al. A search for susceptibility genetic loci to bipolar disorder on chromosome 6 [J]. Journal of Psychiatry, 2010, 23(3):161-164.
[17] 张凤国, 唐剑, 陈星, 等. 山东省981例精神分裂症患者全基因组关联分析研究[J]. 精神医学杂志, 2011, 24(6):401-404. ZHANG Fengguo, TANG Jian, CHEN Xing, et al. Genomewide association analysis of 981 schizophrenic patients in Shandong Province of China [J]. Journal of Psychiatry, 2011, 24(6):401-404.
[18] 杨树林, 杨帆, 翟静, 等. 山东省孤独症4号染色体基因扫描研究[J]. 精神医学杂志, 2014, 27(3):169-174. YANG Shulin, YANG Fan, ZHAI Jing, et al. Genescan of chromosome 4 in autistic nuclear families in Shandong province [J]. Journal of Psychiatry, 2014, 27(3):169-174.
[19] Risch N, Spiker D, Lotspeich L, et al. A genomic screen of autism:evidence for a multilocus etiology[J]. Am J Hum Genet, 1999, 65(2):493-507.
[20] Fradin D, Cheslack-Postava K, Ladd-Acosta C, et al. Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs [J]. PLoS One, 2010, 5(9):e12513.doi:10.1371/journal.pone.0012513.
[21] Cho S C, Yoo H J, Park M, et al. Genome-wide association scan of korean autism spectrum disorders with language delay:a preliminary study[J]. Psychiatry Investig, 2011, 8(1):61-66.
[22] Bartlett C W, Hou L, Flax J F, et al. A genome scan for loci shared by autism spectrum disorder and language impairment[J]. Am J Psychiatry, 2014, 171(1):72-81.
[23] Coon H, Villalobos M E, Robison R J, et al. Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees [J]. Mol Autism, 2010, 1(1):8.doi:10.1186/2040-2392-1-8.
[1] YANG Yufan, LI Yue, XIE Hao, LIN Chunhua. Causality between serum cholesterol concentration and neurogenic bladder risk [J]. Journal of Shandong University (Health Sciences), 2026, 64(5): 67-73.
[2] YANG Jing, ZHANG Lei. Early childhood multi-niche viromes: unclassified phage diversity and host features [J]. Journal of Shandong University (Health Sciences), 2026, 64(5): 116-124.
[3] WU Zhixiao, ZHAO Hongyang. Mendelian randomization analysis of causal associations between immune cell phenotypes and the risk of autism spectrum disorders [J]. Journal of Shandong University (Health Sciences), 2026, 64(3): 83-92.
[4] YANG Hemin, SUN Maolin, LIU Shi, YIN Yue, ZHANG Na, ZHANG Minglong. Effects of EGCG on cerebellar Purkinje cells and behavioral phenotypes in a mouse model of autism spectrum disorder [J]. Journal of Shandong University (Health Sciences), 2026, 64(1): 43-56.
[5] WANG Shan, LIU Wei, FENG Qiang, FAN Yingying, LIU Haixia, DUAN Yanhua, WEN Hongling, JIAO Boyan. Whole genome characterization analysis of Coxsackievirus A6 in Jining in 2021 [J]. Journal of Shandong University (Health Sciences), 2025, 63(9): 92-101.
[6] HUANG Xin, WANG Mengxue, FU Shufan, ZHANG Qiyue, XU Li. Causal association of metabolic syndrome and its components with digestive system malignancies: a two-sample Mendelian randomized study [J]. Journal of Shandong University (Health Sciences), 2025, 63(5): 86-94.
[7] WANG Xiaolei, FANG Jun, WANG An, ZHU Wuhui, SHI Guangjun. Two-sample Mendelian randomization of the relationship between gut microbiota and the risk of extrahepatic cholangiocarcinoma [J]. Journal of Shandong University (Health Sciences), 2025, 63(4): 44-50.
[8] DU Aijia, ZHANG Man, CHEN He, WANG Lixin, SHANG Yingshu. miR-1270-targeted regulation of angiopoietin-like protein 7 inhibits macrophage inflammation and lipid accumulation [J]. Journal of Shandong University (Health Sciences), 2025, 63(2): 1-9.
[9] YANG Hui, SU Shijing, LI Fen. Study on the causal relationship between cathepsins and risk of frailty based on bidirectional two-sample Mendelian randomization [J]. Journal of Shandong University (Health Sciences), 2025, 63(2): 67-76.
[10] DU Kaihao, HOU Lizhao, DONG Xiaoge, XUE Weiwei, HE Jiejie, LUO Lanminghui, JIANG Wei, WANG Zhanjin, WANG Zhan. Relationship between gut microbiota and pancreatic cancer in East Asians: genetic evidence based on Mendelian randomization [J]. Journal of Shandong University (Health Sciences), 2025, 63(12): 44-52.
[11] QI Zaiwen, BAI Xiao, QIN Yuan. Research progress on the mechanism and intervention strategies of cyclic stretch in the intimal hyperplasia after vein graft in coronary artery bypass grafting [J]. Journal of Shandong University (Health Sciences), 2025, 63(12): 118-124.
[12] DONG Jianing, ZHANG Piaopiao, XU Fenfen, ZHAO Hongyang. A case of Kabuki syndrome caused by KMT2D gene mutation [J]. Journal of Shandong University (Health Sciences), 2024, 62(2): 90-95.
[13] QIN Jinjin, CAO Chenyuan, XING Jiejie, AN Yan, HUANG Yuxiang. Predication and bioinformatics analysis of preeclampsia-related Siglec-6 core genes [J]. Journal of Shandong University (Health Sciences), 2024, 62(1): 31-37.
[14] YAN Congcong, CHEN Chen, XIE Qian, WANG Yanan, ZHANG Xinlu, ZHANG Yingchun, WU Bin. Effects of bisphenol A exposure on m6A modification level of KGN cells [J]. Journal of Shandong University (Health Sciences), 2023, 61(8): 17-23.
[15] MENG Jianli, WANG Qinggang. Expression and potential mechanism of VPS72 in lung adenocarcinoma/ squamous cell carcinoma by integrated bioinformatics analysis [J]. Journal of Shandong University (Health Sciences), 2023, 61(8): 40-49.
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
No Suggested Reading articles found!
Copyright 2018 © Editorial office of Journal of Shandong University (Health Sciences)
Supported by Beijing Magtech Co.Ltd