冠状动脉粥样硬化性心脏病8号染色体基因扫描

doi:10.3724/SP.J.1005.2012.01043

遗传 ›› 2012, Vol. 34 ›› Issue (8): 1043-1049.doi: 10.3724/SP.J.1005.2012.01043

冠状动脉粥样硬化性心脏病8号染色体基因扫描

蒋婷婷¹, 陈星², 李婷婷¹, 张凤国², 谢毅³, 张建宁⁴, 彭洁¹, 刘天骄¹, 陈刚², 郭媛¹

1. 山东大学齐鲁医院心内科, 教育部和卫生部心血管重构与功能研究重点实验室, 济南250012 2. 山东省医学科学院基础医学研究所, 医学遗传学与基因工程重点实验室, 济南250062 3. 山东省胸科医院呼吸内科, 济南250013 4. 山东大学齐鲁医院ICU, 济南250012

收稿日期:2012-02-14 修回日期:2012-03-28 出版日期:2012-08-20 发布日期:2012-08-25
通讯作者: 郭媛 E-mail:guoyuan9092@163.com
基金资助:
山东省自然科学基金项目(编号：2009ZRA01110)资助

Genetic scanning on chromosome 8 loci for coronary heart disease

JIANG Ting-Ting¹, CHEN Xing², LI Ting-Ting¹, ZHANG Feng-Guo², XIE Yi³, ZHANG Jian-Ning⁴, PENG Jie¹, LIU Tian-Jiao¹, CHEN Gang², GUO Yuan¹

1. Department of Cardiology, Qilu Hospital of Shandong University, Jinan 250012, China 2. Laboratory of Medical Genetics, Institute of Basic Medicine, Shandong Academy of Medical Sciences, Jinan 250062, China 3. Department of Respiratory Medicine, Shandong Provincial Thoracic Hospital, Jinan 250013, China 4. Department of Intensive Care Unit, Qilu Hospital of Shandong University, Jinan 250012, China

Received:2012-02-14 Revised:2012-03-28 Online:2012-08-20 Published:2012-08-25

摘要/Abstract

摘要： 冠状动脉粥样硬化性心脏病(Coronary heart disease, CHD)的全基因组扫描研究在世界各大研究中心展开, 关于CHD易感基因位点的报道多集中于1号、3号、9号、11号、16号染色体, 对8号染色体的研究报道甚少。在汉族人群中未见关于CHD的8号染色体的基因扫描研究。文章旨在查找汉族人群中CHD易感基因位点, 选取8号染色体上间隔10 cM遗传距离的13个微卫星遗传位点, 采用DNA混合池的方法对CHD患者组156例和正常对照组1 000例DNA样本进行基因扫描, 经卡方检验分析患者组和对照组每个位点的等位基因频率差异。发现在患者组与对照组中D8S264位点(8p23.3-p23.2)及D8S285位点(8q12.1)的等位基因频率差异有统计学意义(P<0.05)。汉族人群中CHD患者8号染色体上8p23.3-p23.2、8q12.1区域可能存在CHD易感基因, 需要进行候选基因突变筛查。

关键词: 冠心病, 8号染色体, DNA混合池

Abstract: At present, genome-wide association study on coronary heart disease (CHD) has been carried out in several major medical research centers worldwide. Most studies of CHD susceptibility loci or regions focused on chromosome 1, 3, 9, 11 and 16, while studies on chromosome 8 are rare. To the best of our knowledge, the genome study on chromosome 8 about CHD in Chinese Han population has never been reported before. We aimed to identify CHD susceptibility loci or regions in the Chinese Han population. First, two separated DNA pooling samples were prepared from 156 CHD cases and 1000 normal controls. Then, a total of 13 microsatellite markers at an interval of 10 cM on chromosome 8 were selected for genetic scanning. Finally, the difference of allele frequency at each locus between two pooled samples was analyzed by Chi-square test. Significant differences were found between cases and controls at D8S264 (8p23.3-p23.2) and D8S285 (8q12.1) (both P<0.05). Therefore, 8p23.3-p23.2 and 8q12.1 are possible to be associated with CHD and further study is needed to screen susceptible genes around these regions.

Key words: coronary heart disease, chromosome 8, DNA pooling

蒋婷婷，陈星，李婷婷，张凤国，谢毅，张建宁，彭洁，刘天娇，陈刚，郭媛. 冠状动脉粥样硬化性心脏病8号染色体基因扫描[J]. 遗传, 2012, 34(8): 1043-1049.

JIANG Ting-Ting, CHEN Xing, LI Ting-Ting, ZHANG Feng-Guo, XIE Yi, ZHANG Jian-Ning, PENG Jie, LIU Tian-Jiao, CHEN Gang, GUO Yuan. Genetic scanning on chromosome 8 loci for coronary heart disease[J]. HEREDITAS, 2012, 34(8): 1043-1049.

参考文献

[1] Marenberg ME, Risch N, Berkman LF, Floderus B, de Faire U. Genetic susceptibility to death from coronary heart disease in a study of twins. N Engl J Med, 1994, 330(15): 1041-1046.
[2] Engert JC, Lemire M, Faith J, Brisson D, Fujiwara TM, Roslin NM, Brewer CG, Montpetit A, Darmond-Zwaig C, Renaud Y, Doré C, Bailey SD, Verner A, Tremblay G, StPierre J, Bétard C, Platko J, Rioux JD, Morgan K, Hudson TJ, Gaudet D. Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. Eur J Hum Genet, 2008, 16(1): 105-114.
[3] Barcellos LF, Klitz W, Field LL, Tobias R, Bowcock AM, Wilson R, Nelson MP, Nagatomi J, Thomson G. Association mapping of disease loci, by use of a pooled DNA ge-nomic screen. Am J Hum Genet, 1997, 61(3): 734-747.
[4] Ma ZJ, Yi HG, Zhao Y, Chen F. Using two-stage case-control designs to study the genome-wide association. Chinese J Epidemiol, 2010, 31(10): 1184-1187.
[5] Bharti AR, Letendre SL, Patra KP, Vinetz JM, Smith DM. Malaria diagnosis by a polymerase chain reaction-based assay using a pooling strategy. Am J Trop Med Hyg, 2009, 81(5): 754-757.
[6] Bugeja MJ, Booth DR, Bennetts BH, Heard RN, Stewart GJ. An investigation of polymorphisms in the 4q1 3. 3-21. 1 CXC chemokine gene cluster for association with multiple sclerosis in Australians. Mult Scler, 2006, 12(6): 710-722.
[7] Matkovich SJ, Van Booven DJ, Hindes A, Kang MY, Druley TE, Vallania FL, Mitra RD, Reilly MP, Cappola TP, Dorn GW 2nd. Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. J Clin Invest, 2010, 120(1): 280-289.
[8] 王博, 张成, 林汝湘, 陈刚, 魏然, 朱海宁, 栾萌, 周鹏, 高春义. 山东省原发性高血压1号染色体基因扫描. 中国高血压杂志, 2008, 16(2): 277-282.
[9] Liu Y, Chen G, Norton N, Liu W, Zhu H, Zhou P, Luan M, Yang S, Chen X, Carroll L, Williams NM, O'Donovan MC, Kirov G, Owen MJ. Whole genome association study in a homogenous population in Shandong peninsula of China reveals JARID2 as a susceptibility gene for schizophrenia. J Biomed Biotechnol, 2009, 2009: 536918, doi: 10.1155/ 2009/536918.
[10] Chen X, Tang J, Liu Y, Luan M, An K, Zhang Y, Li FH, Zhou P, Liu WM, Liu JT, Chen G. Lack of association between NCAM1 and early onset schizophrenia in a family based study in Shandong peninsula of China. J Pe-diatric Genet, 2011, 1(1): 39-45.
[11] 谢毅, 郭媛, 陈刚, 李继福, 朱海宁, 魏然, 王博, 栾萌. 山东地区冠状动脉粥样硬化心脏病患者3号染色体基因扫描研究. 山东大学学报, 2009, 47(1): 56-60.
[12] Adeyemo A, Luke A, Cooper R, Wu X, Tayo B, Zhu X, Rotimi C, Bouzekri N, Ward R. A genome-wide scan for body mass index among Nigerian families. Obes Res, 2003, 11(2): 266-273.
[13] Johnson L, Luke A, Adeyemo A, Deng HW, Mitchell BD, Comuzzie AG, Cole SA, Blangero J, Perola M, Teare MD. Meta-analysis of five genome-wide linkage studies for body mass index reveals significant evidence for linkage to chromosome 8p. Int J Obes, 2005, 29(4): 413-419.
[14] Naoumova RP, Bonney SA, Eichenbaum-Voline S, Patel HN, Jones B, Jones EL, Amey J, Colilla S, Neuwirth CK, Allotey R, Seed M, Betteridge DJ, Galton DJ, Cox NJ, Bell GI, Scott J, Shoulders CC. Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipi-demia. Arterioscler Thromb Vasc Biol, 2003, 23(11): 2070-2077.
[15] Ling H, Waterworth DM, Stirnadel HA, Pollin TI, Barter PJ, Kesäniemi YA, Mahley RW, McPherson R, Waeber G, Bersot TP, Cohen JC, Grundy SM, Mooser VE, Mitchell BD. Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. Obesity, 2009, 17(4): 737-744.
[16] Komura N, Kihara S, Sonoda M, Kumada M, Fujita K, Hiuge A, Okada T, Nakagawa Y, Tamba S, Kuroda Y, Ha-yashi N, Sumitsuji S, Kawamoto T, Matsumoto S, Ouchi N, Arita Y, Okamoto Y, Shimomura I, Funahashi T, Matsu-zawa Y. Clinical significance of high-molecular weight form of adiponectin in male patients with coronary artery disease. Circ J, 2008, 72(1): 23-28.
[17] Maahs DM, Hamman RF, D'Agostino R Jr, Dolan LM, Imperatore G, Lawrence JM, Marcovina SM, Mayer-Davis EJ, Pihoker C, Dabelea D. The association between adi-ponectin/leptin ratio and diabetes type: the SEARCH for Diabetes in Youth Study. J Pediatr, 2009, 155(1): 133-135.
[18] Zhu B, Li CZ, Pan YH, Zhang Y, Zeng YM, Xue YM. Regulation of hepatic lipid metabolism by adiponection via IRS-2 phosphorylation in OLETF rats. Nati Medi J China, 2011, 91(44): 3134-3138.
[19] Skrabal CA, Czaja J, Honz K, Emini R, Hannekum A, Friedl R. Adiponectin-its potential to predict and prevent coronary artery disease. Thorac Cardiovasc Surg, 2011, 59(4): 201-206.
[20] Gormez S, Demirkan A, Atalar F, Caynak B, Erdim R, Sozer V, Gunay D, Akpinar B, Ozbek U, Buyukdevrim AS. Adipose tissue gene expression of adiponectin, tumor necrosis factor-α and leptin in metabolic syndrome patients with coronary artery disease. Intern Med, 2011, 50(8): 805-810.
[21] Nishimura M, Takahashi H. Potential of plasma adiponectin concentrations as a predictive marker for instent restenosis after percutaneous coronary intervention in pa-tients on hemodialysis. Rinsho Byori, 2011, 59(8): 795-800.
[22] Hayashi M, Shibata R, Takahashi H, Ishii H, Aoyama T, Kasuga H, Yamada S, Ohashi K, Maruyama S, Matsuo S, Ouchi N, Murohara T, Toriyama T. Association of adi-ponectin with carotid arteriosclerosis in predialysis chronic kidney disease. Am J Nephrol, 2011, 34(3): 249-255.
[23] 张献玲, 彭文辉, 陆林, 吴立群, 顾刚, 王玲洁, 闫小响, 陈秋静, 沈卫峰. 脂联素基因多态性与冠心病及斑块进展的相关性研究. 上海交大学报 (医学版), 2009, 29(4): 435-439.
[24] 陈芳, 武海亮, 王洁, 杨锐英. 脂联素水平及基因多态性与冠心病的关系. 临床心血管病杂志, 2011, 27(4): 284-287.

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冠状动脉粥样硬化性心脏病8号染色体基因扫描

Genetic scanning on chromosome 8 loci for coronary heart disease

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