中国人内源性高甘油三酯血症患者脂蛋白脂酶及肝脂酶常见基因变异的研究

COMMON GENETIC VARIANTS OF LIPOPROTEIN LIPASE AND HEPATIC LIPASE IN CHINESE ENDOGENOUS HYPERTRIGLYCERIDEMICS

为了解中国人内源性高甘油三酯血症患者脂蛋白脂酶及肝脂酶常见基因变异情况，应用多聚酶链反应（ＰＣＲ）对成都地区６９例内源性高甘油三酯血症患者（ＨＴＧ）及７４例正常人脂蛋白脂蛋酶（ＬＰＬ）及肝脂酶（ＨＬ）基因的多态性进行了研究。检测的ＬＰＬ基因突变位点有：Ａｓｐ９→Ａｓｎ，Ａｓｎ２９１→Ｓｅｒ，Ｔｈｒ３６１→Ｔｈｒ，Ｓｅｒ４４７→Ｔｅｒ及内含子８的ＨｉｎｄⅢ酶切位点；ＨＬ基因突点位点为Ｔｈｒ２０２→Ｔｈｒ。结果表明，在欧洲白种人中存在的与ＨＴＧ相关联的Ａｓｐ９→Ａｓｎ及Ａｓｎ２９１→Ｓｅｒ突变在６９例ＨＴＧ及７４例正常中国人中１例也未发现（Ｐ＜０．０３）；与欧洲白种人比较，ＬＰＬ基因其余３个酶切位点少见等位基因频率则未见差异；而ＨＬ基因Ｃ６７９→Ｇ中Ｇ等位基因频率中国人显著低于欧洲白种人（０．０５７ｖｓ０．５００，Ｐ＜０．０００１）。中国人ＨＴＧ组与正常对照组比较，ＬＰＬ基因５个突变位点及ＨＬ基因Ｃ６７９→Ｇ突变的少见等位基因频率均未见差异，且ＬＰＬ及ＨＬ基因型亚型血脂及载脂蛋白（ａｐｏ）水平均无差异。上述结果表明，中国人内源性高甘油三酯血症可能与ＬＰＬ基因Ｃ１３３８→Ａ，Ｃ１５９５→Ｇ及内含子８ＨｉｎｄⅢ位点?

To investigate the common gene variations of lipoprotein lipase (LPL) and hepatic lipase (HL) in Chinese endogenous hypertrigly ceridemics, the DNA polymorphisms of LPL and HL gene were studied using polymerase chain reaction (PCR) in 69 endogenous hypertriglyceridemics (HTG) and 74 healthy subjects from a population of Chinese Han nationality in Chengdu area. The loci studied include Asp9 Asn (exon 2, Taq 1), Asn291 Ser (exon 6, A1127 G, Rsa 1), Thr361 Thr (exon 8, C1338 A, Hae111), Ser447 Ter (exon 9, C1595 G, Mn11) and restriction site at HindⅢ(exon 8) of LPL and Thr202 Thr (exon 5, C679 G, Mspl) of HL.The results showed that both in HTG group and control group, the common alleles were the major alleles and homozygous genotypes were the most frequent one. Two hypertriglyceridemia related genetic variants (Asp9 Asn and Asn291 Ser) in European Caucasians were not found in 142 Chinese samples ( P<0.03) . No ethnic differences were found in other LPL variants, and no differences in allelic frequencies were found within trigly cerides, HDL C and apolipoproteins. The frequency of C679 G allele of HL gene in Chinese was significantly lower than that in European 5(0.057 vs 0.500, P <0.001). No differences were found in genetic variants of LPL and genetic variant of HL in HTG group when compared with the control group. These results suggest that the common genetic variants of LPL and HL related to hypertriglyceridemia in Caucasians might be not associated with endogenous hypertriglyceridemia in Chinese population.