Zhong Zhixiong, Wu Heming, Wu Hesen, Zhao Pingsen
Center for Precision Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University, Meizhou, P.R. China.
Center for Cardiovascular Diseases, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University, Meizhou, P.R. China.
Genet Mol Biol. 2018 Oct-Dec;41(4):742-749. doi: 10.1590/1678-4685-GMB-2017-0301. Epub 2018 Nov 29.
There is currently no data about the genetic variations of APOE in Hakka population in China. The aim of this study was to analyze the allelic and genotypic frequencies of APOE gene polymorphisms in a large ethnic Hakka population in southern China. The APOE genes of 6,907 subjects were genotyped by the gene chip platform. The allele and genotype frequencies were analyzed. Results showed that the ∊3 allele had the greatest frequency (0.804) followed by ∊2 (0.102), and ∊4 (0.094), while genotype ∊3/∊3 accounted for 65.43% followed by ∊2/∊3 (15.85%), ∊3/∊4 (14.13%), ∊2/∊4 (3.01%), ∊4/∊4 (0.84%), and ∊2/∊2 (0.74%) in all subjects. The frequencies of the ∊4 allele in Chinese populations were lower than Mongolian and Javanese, while the frequencies of the ∊2 allele were higher and ∊4 allele lower than Japanese, Koreans, and Iranian compared with the geographically neighboring countries. The frequencies of ∊2 and ∊4 alleles in Hakka population were similar to the Vietnamese, Chinese-Shanghai, Chinese-Kunming Han and Chinese-Northeast, and French. The frequency of ∊2 in Hakka population was higher than Chinese-Dehong Dai and Chinese-Jinangsu Han. The low frequency of the APOE ∊4 allele may suggest a low genetic risk of Hakka population for cardiovascular disease, Alzheimer's disease, and other diseases.
目前尚无关于中国客家人群载脂蛋白E（APOE）基因变异的数据。本研究旨在分析中国南方一个大型客家族群中APOE基因多态性的等位基因和基因型频率。通过基因芯片平台对6907名受试者的APOE基因进行基因分型，并分析等位基因和基因型频率。结果显示，在所有受试者中，ε3等位基因频率最高（0.804），其次是ε2（0.102）和ε4（0.094）；基因型ε3/ε3占65.43%，其次是ε2/ε3（15.85%）、ε3/ε4（14.13%）、ε2/ε4（3.01%）、ε4/ε4（0.84%）和ε2/ε（0.74%）。与地理上相邻的国家相比，中国人群中ε4等位基因频率低于蒙古族和爪哇族，ε2等位基因频率高于日本、韩国和伊朗人群，ε4等位基因频率低于日本、韩国和伊朗人群。客家人群中ε2和ε4等位基因频率与越南人群、中国上海人群、中国昆明汉族人群、中国东北人群以及法国人群相似。客家人群中ε2频率高于中国德宏傣族人群和中国江苏汉族人群。APOE ε4等位基因的低频率可能表明客家人群患心血管疾病、阿尔茨海默病和其他疾病的遗传风险较低。
