Gigek Carolina de Oliveira, Chen Elizabeth Suchi, Cendoroglo Maysa Seabra, Ramos Luiz Roberto, Araujo Lara M Quirino, Payão Spencer Luiz Marques, Smith Marília de Arruda Cardoso
Departamento de Morfologia e Genética, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
Clin Chem Lab Med. 2007;45(5):599-604. doi: 10.1515/CCLM.2007.115.
Lipoprotein lipase has an important role in lipid metabolism. Elevated levels of very-low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) are associated with increased risk of coronary artery disease and low levels of high-density lipoprotein (HDL) are potentially atherogenic. The HindIII and S447X polymorphisms of the lipoprotein lipase (LPL) gene are associated with cardiovascular disease in some populations.
LPL HindIII and S447X polymorphisms were analyzed in 343 individuals of 66-97 years of age from a cohort of a Brazilian elderly longitudinal study. Allele frequencies, genotype distribution and allele association with major morbidities and with serum lipid, urea, creatinine and albumin levels were also investigated. The whole sample was genotyped by PCR-restriction fragment length polymorphism (RFLP). Descriptive statistics, logistic regression analysis and t-test were used.
Allele frequencies were H(+)=0.652 and H(-)=0.348 for LPL HindIII and S=0.824 and X=0.176 for LPL S447X polymorphism. Both polymorphisms have frequencies similar to those in some European populations. LPL HindIII polymorphism showed significant association of the H(+) allele with myocardial infarction. The H(-) allele showed a tendency to associate with higher HDL levels. The LPL S447X S allele was associated with higher triglyceride levels.
These findings may help to identify risk factors for subjects and families and clarify the physiopathological role of these polymorphisms in age-related diseases.
脂蛋白脂肪酶在脂质代谢中起重要作用。极低密度脂蛋白(VLDL)和低密度脂蛋白(LDL)水平升高与冠状动脉疾病风险增加相关,而高密度脂蛋白(HDL)水平低可能具有致动脉粥样硬化性。脂蛋白脂肪酶(LPL)基因的HindIII和S447X多态性在一些人群中与心血管疾病相关。
对巴西老年纵向研究队列中343名66 - 97岁个体的LPL HindIII和S447X多态性进行分析。还研究了等位基因频率、基因型分布以及等位基因与主要疾病以及血清脂质、尿素、肌酐和白蛋白水平的关联。通过聚合酶链反应 - 限制性片段长度多态性(PCR - RFLP)对整个样本进行基因分型。使用描述性统计、逻辑回归分析和t检验。
LPL HindIII多态性的等位基因频率为H( + ) = 0.652和H( - ) = 0.348,LPL S447X多态性的S = 0.824和X = 0.176。两种多态性的频率与一些欧洲人群相似。LPL HindIII多态性显示H( + )等位基因与心肌梗死有显著关联。H( - )等位基因显示出与较高HDL水平相关的趋势。LPL S447X S等位基因与较高的甘油三酯水平相关。
这些发现可能有助于识别个体和家庭的风险因素,并阐明这些多态性在与年龄相关疾病中的生理病理作用。