Wu Jie, Qiu Ling, Guo Xiu-zhi, Xu Tao, Cheng Xin-qi, Zhang Lin, Li Peng-chang, Di Qian, Wang Qing, Ni Lan, Zhu Guang-jin
Department of Clinical Laboratory, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Science, Beijing, China.
Department of Epidemiology and Statistics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
PLoS One. 2014 Oct 30;9(10):e110864. doi: 10.1371/journal.pone.0110864. eCollection 2014.
Primary hyperuricemia, an excess of uric acid in the blood, is a major public health problem. In addition to the morbidity that is attributable to gout, hyperuricemia is also associated with metabolic syndrome, hypertension, and cardiovascular disease. This study aims to assess the genetic associations between Apolipoprotein E (APOE) polymorphisms and hyperuricemia in a Chinese population.
A total of 770 subjects (356 hyperuricemic cases and 414 normouricemic controls) were recruited from the Ningxia Hui Autonomous Region, China. A physical examination was performed and fasting blood was collected for biochemical tests, including determination of the levels of serum lipid, creatinine, and uric acid. Multi-ARMS PCR was applied to determine the APOE genotypes, followed by an investigation of the distribution of APOE genotypes and alleles frequencies in the controls and cases.
The frequencies of the APOE-ε2ε3 genotype (17.70% vs. 10.39%, P = 0.003) and the APOE-ε2 allele (10.53% vs. 5.80%, P = 0.001) were significantly higher in the hyperuricemic group than in the normouricemic group. Furthermore, male cases were more likely to have the APOE-ε2ε3 genotype and APOE-ε2 allele, compared with male controls. In both Han and Hui subjects, cases were more likely to have the APOE-ε2ε3 genotype and the APOE-ε2 allele compared with controls. Furthermore, multivariate logistic regression showed that carriers of the APOE-ε2ε3 genotype (P = 0.001, OR = 2.194) and the ε2 allele (P = 0.001, OR = 2.099) were significantly more likely to experience hyperuricemia than carriers of the ε3/ε3 genotype and the ε3 allele after adjustment for sex, body mass index (BMI), diastolic blood pressure (DBP), triglyceride (TG), low density lipoprotein cholesterol (LDL-C), creatinine (Cr) and fasting blood glucose (FBG).
The APOE-ε2ε3 genotype and the APOE-ε2 allele are associated with serum uric acid levels in Chinese subjects, indicating that individuals carrying the APOE-ε2 allele have a higher risk of hyperuricemia than non-carriers.
原发性高尿酸血症，即血液中尿酸过多，是一个主要的公共卫生问题。除了痛风所致的发病率外，高尿酸血症还与代谢综合征、高血压和心血管疾病有关。本研究旨在评估中国人群中载脂蛋白E（APOE）基因多态性与高尿酸血症之间的遗传关联。
从中国宁夏回族自治区招募了770名受试者（356例高尿酸血症患者和414例血尿酸正常对照）。进行了体格检查，并采集空腹血进行生化检测，包括测定血脂、肌酐和尿酸水平。应用多重扩增阻滞突变系统聚合酶链反应（Multi-ARMS PCR）确定APOE基因型，随后调查对照和病例中APOE基因型和等位基因频率的分布。
高尿酸血症组中APOE-ε2ε3基因型频率（17.70%对10.39%，P = 0.003）和APOE-ε2等位基因频率（10.53%对5.80%，P = 0.001）显著高于血尿酸正常组。此外，与男性对照相比，男性病例更可能具有APOE-ε2ε3基因型和APOE-ε2等位基因。在汉族和回族受试者中，病例与对照相比都更可能具有APOE-ε2ε3基因型和APOE-ε2等位基因。此外，多因素逻辑回归显示，在调整性别、体重指数（BMI）、舒张压（DBP）、甘油三酯（TG）、低密度脂蛋白胆固醇（LDL-C）、肌酐（Cr）和空腹血糖（FBG）后，APOE-ε2ε3基因型携带者（P = 0.001，OR = 2.194）和ε2等位基因携带者（P = 0.001，OR = 2.099）比ε3/ε3基因型和ε3等位基因携带者更易发生高尿酸血症。
APOE-ε2ε3基因型和APOE-ε2等位基因与中国受试者的血清尿酸水平相关，表明携带APOE-ε2等位基因的个体比非携带者患高尿酸血症的风险更高。
