为了探讨延边朝鲜族和汉族脂联素基因启动子单核苷酸多态性(SNPs)与原发性高血压(EH)的关系, 文章采用PCR产物直接测序方法检测了220例EH患者和268例对照个体的脂联素启动子5个SNPs位点: -11426A>G(rs16861194)、-11391G>A(rs17300539)、-11377C>G(rs62620185)、-11156insCA(rs60806105)、-11043C>T(rs76786086), 氧化酶法测定空腹血糖、甘油三酯、总胆固醇、低密度脂蛋白、高密度脂蛋白, 酶联免疫吸附法(ELISA)测定血浆脂联素和胰岛素。结果显示: (1) -11426A>G、-11377C>G 和-11156insCA 3个位点具有多态性, 且它们的基因型频率分布符合Hardy-Weinberg平衡定律(P>0.05), -11391G>A和-11043C>T位点无多态性; (2) -11426A>G和-11156insCA呈完全连锁不平衡(D’=1; r2=1); (3) -11426G基因频率比较, 朝鲜族(21.10%)高于汉族(12.05%), 汉族EH组高于对照组; -11377C>G的基因型和基因频率在朝鲜族和汉族间及同一民族内EH组和对照组间比较均无统计学意义(P>0.05); (4)单倍型?11426G -11377C的频率, 汉族EH组高于对照组(P<0.05), 朝鲜族EH组和对照组比较无统计学意义(P>0.05); (5)EH组的血浆脂联素水平明显低于对照组(P<0.001)。据此得出结论: (1)首次发现?11426A>G和?11156insCA呈完全连锁不平衡, -11426 A>G的多态性在朝鲜族和汉族中存在民族差异; (2) -11426 G和-11426G -11377C是延边汉族EH的危险因子和危险单倍型, 但不是朝鲜族的; (3)低血浆脂联素是延边朝鲜族和汉族EH的重要危险因素; (4)血浆脂联素水平与-11426A>G基因型无关。

To investigate the association between the single nucleotide polymorphisms (SNPs) in adiponectin gene promoter and essential hypertension (EH) in Chinese Korean and Han of Yanbian area, 220 EH patients and 268 normotensive control individuals were enrolled. PCR and direct DNA sequencing were used to determine the  -11426A>G (rs16861194), -11391G>A (rs17300539), -11377C>G (rs62620185), -11156insCA (rs60806105), and  -11043C>T (rs76786086) SNPs in the promoter region of adiponectin gene. Total cholesterol (TC), the triglyceride (TG), fasting plasma glucose (FPG), low density lipoprotein-cholesterol (LDL-C), and high density lipoprotein-cholesterol (HDL-C) levels were examined by oxi-dase method. The plasma adiponectin and insulin were measured by enzyme linked immunosorbent assay (ELISA). The results showed that: (1) SNPs of -11426A>G,  -11377C>G, and ?11156insCA were found and in Hardy-Weinberg equilib-rium (P>0.05), but not the case in ?11391G>A and ?11043C>T. (2) ?11426A>G and ?11156insCA were perfectly in link-age disequilibrium (D’=1; r2=1). (3) The allele G frequency of ?11426A>G polymorphism in Chinese Korean (21.10%) was significantly higher than that in Chinese Han (12.50%), and also higher in EH group than in the control group of Chinese Han. The genotype and allele frequencies of -11377C>G showed no significant difference between the two groups ob-served. (4) The haplotype -11426G-11377C frequency in EH of Chinese Han was higher than in the control group (P<0.05). (5) The EH showed lower plasma adiponectin level compared with the control group (P<0.001) in both Chinese Korean and Han. Our results indicate that: (1) the perfect linkage disequilibrium of -11426A>G and  -11156insCA is first reported, and the SNP of -11426A>G is associated with Chinese Han and Korean. (2) -11426 G and -11426G-11377C are risk factor and risk haplotype in Yanbian Chinese Han, but not in Chinese-Korean. (3) The lower hypoadiponectinemia is the important risk factors for EH in Chinese Korean and Han of Yanbian area. (4) There is no relationship between-11426A>G polymorphism and the plasma adiponectin level.