摘要
目的:观察山东沿海地区人群SLC22A12基因的多态性,分析其与高尿酸血症的关系。方法:该实验于2005-11/2006-04收集病历于2006-05/07完成实验室部分。纳入青岛大学医学院附属医院门诊或青岛市社区高尿酸血症患者138例为高尿酸血症组,同时选取青岛市区健康者117人健康对照组。两次来访,初访时进行详细的记录,包括用药情况、身高、体质量、腰围、腹围、体质量指数、血压以及家族史。再访时隔夜空腹12h抽血测血尿酸、血糖、血脂、肝酶等,分析两组生化指标的差异。所有标本采用PCR、DNA序列分析、病历对照等方法对138例高尿酸血症者和117例健康对照者基因进行分析。结果:高尿酸血症组患者138例,健康对照组117人全部进入结果分析,无脱失。①健康对照组和高尿酸血症组一般情况比较,年龄、血肌酐、空腹血糖两组比较差异无统计学意义(P>0.05)。体质量指数、腰臀围比、血压、血尿酸、总胆固醇、三酰甘油空腹血糖两组比较差异有显著性意义(P<0.001)。②健康对照组CC+CT基因型和TT基因型频率与高尿酸血症组比较差异有非常显著性意义(77.8%,97.1%;22.2%,2.9%;P<0.001)。③健康对照组CC+CT基因型和TT基因型相对应的血尿酸值比较差异有显著性意义[(271±33.5),(301±37.8)mmol/L,P<0.01]。高尿酸血症组CC+CT基因型和TT基因型相对应的血尿酸比较差异无统计学意义[(457±71.2),(459±80.1)mmol/L,P>0.05]。结论:高尿酸血症和正常人hURAT1基因同样存在多个突变位点,基因的多态性与血清尿酸水平有关。SLC22A12基因C258T位点多态性与中国沿海地区高尿酸血症有关。
AIM： To investigate the polymorphisms of SLC22A12 gene in population living in the coastal area of Shandong, and analyze its association with hyperuricemia. METHODS： The medical records from November 2005 to April 2006 were collected and the experiment was conducted from May to July 2006. 138 patients with hyperuricemia were selected as the hyperuricemia group from the Clinic of Affiliated Hospital, Medical College of Qingdao University, Meanwhile, 117 healthy people of Qingdao City were selected as normal controls. Subjects were interviewed twice, and information, including the medication, body height, body mass, waistline, abdominal circumference, body mass index （BMI）, blood pressure and family history, were recorded in detail. Subjects were re-interviewed to get the blood samples for determination of the blood uric acid, blood glocuse, blood lipid and liver enzyme at 12 hours after fasting. The differences, in biochemical indexes were analyzed between the two groups. Gene from 138 patients with hyperuricemia and 117 normal controls was analyzed by PCR, direct DNA Sequencing and case-control study. RESULTS： Totally 138 hyperuricemia patients and 117 normal controls were involved in the analysis of results, and no one withdrew from the study. ① There were no statistical differences in age, serum creatinine and fasting blood glucose between the normal control group and the hyperudcemia group （P 〉 0.05）, while the BMI, waist-to-hip ratio, blood pressure, blood uric acid, total cholesterol （TC）, triglyceride and fasting blood glucose were significantly different between the two groups （P 〈 0.001）. ② The genotypic frequencies of CC＋CT and TT in the normal control group were remarkably different from those in the hyperuricemia group （77.8%,97.1% ;22.2% ,2.9% ;P 〈 0.001）. ③ There were significant differences in the blood uric acid between the normal control group of CC＋CT genotype and .TT genotype [（271±33.5）, （301±37.8） mmol/L, P 〈 0.01]. There was no statistical difference in blood uric acid between the hyperuricemia group of CC＋CT genotype and TT genotype [（457±71.2）, （459±80.1） mmol/L,P 〉 0.05]. CONCLUSION： Multiple mutational sites are found in the hURAT1 gene of both patients with hyperudcemia and normal people, and the polymorphism of gene relates with the level of serum uric acid. The mutation of SLC22A12 exon 1 C258T in SLC22A12 genemight be correlated with hyperudcemia in Chinese coastal area.
出处
《中国组织工程研究与临床康复》
CAS
CSCD
北大核心
2007年第4期707-710,共4页
Journal of Clinical Rehabilitative Tissue Engineering Research
