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AJHG:中国人基因差异研究

来源:科技日报 2009-11-27 09:36

新、中、美、英四国科学家对8200名中国人的基因进行了仔细分析发现,中国南方人和北方人之间有0.3%的基因不一样,而且,讲不同方言的群体之间也存在明显的基因差异。该研究将有助于科学家确定是否某些基因变异会使特定人群更易感染特定疾病,以便采取有针对性的预防措施,并最终找到治疗方法。相关研究成果出版在最新一期的美国《人类遗传学》杂志上。

研究由新加坡科技研究局人类基因组项目负责人Jianjun Liu领导。他表示,目前还不知道这些基因差异说明了什么,但他们确实发现了某些基因会使某些人具有更容易感染某些疾病的倾向。比如,他们发现,与中国的北方人相比,南方人更容易患上鼻咽癌。

另外,他们也在患有牛皮癣和系统性红斑狼疮这两种慢性自体免疫病症的病人身上发现了特殊的基因。在分别查看了1000名患有牛皮癣的病人和没有患病的人的基因之后,研究人员在患有牛皮癣的病人身上的3个位置找到了特定的基因变异。刘建军指出,在这些病人身上,这种基因变异非常普遍,而没有该病症的人身上则几乎没有出现这种变异,找到这些基因非常有助于研究人员进一步理解为何有些人容易患上该疾病。(生物谷Bioon.com)

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The American Journal of Human Genetics, 25 November 2009 doi:10.1016/j.ajhg.2009.10.016

Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation

Jieming Chen1, 12, Houfeng Zheng3, 4, 5, 12, Jin-Xin Bei6, 7, Liangdan Sun3, 4, 5, Wei-hua Jia6, 7, Tao Li8, 9, Furen Zhang10, Mark Seielstad1, 2, 11, Yi-Xin Zeng6, 7, Xuejun Zhang3, 4, 5 and Jianjun Liu1, 2, 3, 5, , 

1 Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore
2 Centre for Molecular Epidemiology, (Yong Loo Lin) School of Medicine, the National University of Singapore 117597, Singapore
3 Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, Anhui 230032, P.R. China
4 Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui 230032, P.R. China
5 The Key Laboratory of Gene Resource Utilization for Severe Diseases, Ministry of Education and Anhui Province, Hefei, 230032, P.R. China
6 State Key Laboratory of Oncology in Southern China, Guangzhou 510060, P.R. China
7 Department of Experimental Research, Sun Yat-sen University Cancer Center, Guangzhou 510060, P.R. China
8 The Department of Psychiatry & Psychiatric laboratory, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China
9 The Department of Psychological Medicine and Psychiatry, Institute of Psychiatry, King's College London, London SE5 8AF, UK
10 Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, Shandong 250022, P.R. China
11 Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA

Population stratification is a potential problem for genome-wide association studies (GWAS), confounding results and causing spurious associations. Hence, understanding how allele frequencies vary across geographic regions or among subpopulations is an important prelude to analyzing GWAS data. Using over 350,000 genome-wide autosomal SNPs in over 6000 Han Chinese samples from ten provinces of China, our study revealed a one-dimensional “north-south” population structure and a close correlation between geography and the genetic structure of the Han Chinese. The north-south population structure is consistent with the historical migration pattern of the Han Chinese population. Metropolitan cities in China were, however, more diffused “outliers,” probably because of the impact of modern migration of peoples. At a very local scale within the Guangdong province, we observed evidence of population structure among dialect groups, probably on account of endogamy within these dialects. Via simulation, we show that empirical levels of population structure observed across modern China can cause spurious associations in GWAS if not properly handled. In the Han Chinese, geographic matching is a good proxy for genetic matching, particularly in validation and candidate-gene studies in which population stratification cannot be directly accessed and accounted for because of the lack of genome-wide data, with the exception of the metropolitan cities, where geographical location is no longer a good indicator of ancestral origin. Our findings are important for designing GWAS in the Chinese population, an activity that is expected to intensify greatly in the near future.

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