Friedrich Deise C, de Andrade Fabiana M, Fiegenbaum Marilu, de Almeida Silvana, Mattevi Vanessa S, Callegari-Jacques Sidia M, Hutz Mara H
Departamento de Genética , Universidade Federal do Rio Grande do Sul , Porto Alegre, RS , Brazil .
Instituto de Ciências da Saúde , Universidade Feevale , Novo Hamburgo, RS , Brazil .
Genet Mol Biol. 2014 Oct;37(4):611-5. doi: 10.1590/S1415-47572014005000012. Epub 2014 Oct 21.
The Metabolic Syndrome (MetS) is defined as a pattern of metabolic disturbances, which include central obesity, insulin resistance and hyperglycemia, dyslipidemia, and hypertension. Milk has been promoted as a healthy beverage that can improve the management of MetS. Most human adults, however, down-regulate the production of intestinal lactase after weaning. Lactase encoded by the LCT gene is necessary for lactose digestion. The -13910C > T SNP (rs4988235) is responsible for the lactase persistence phenotype in European populations. We herein investigated whether the lactase persistence genotype is also associated with the MetS in subjects from a Brazilian population of European descent. This study consisted of 334 individuals (average age of 41 years) genotyped by PCR-based methods for the -13910C > T SNP. Clinical data were assessed and the genotypes were tested for their independent contribution to the MetS using chi-square tests and multiple logistic regression analysis. Univariate analyses showed that hypertension and MetS prevalence were higher in individuals with the lactase non-persistence genotype than in lactase persistence subjects. Furthermore, lactase persistence was associated with a lower risk for MetS (OR = 0.467; 95% CI 0.264-0.824; p = 0.009). These results suggest that LCT genotypes can be a valuable tool for the management of MetS treatment.
代谢综合征（MetS）被定义为一种代谢紊乱模式，包括中心性肥胖、胰岛素抵抗和高血糖、血脂异常以及高血压。牛奶被宣传为一种有助于改善代谢综合征管理的健康饮品。然而，大多数成年人在断奶后会下调肠道乳糖酶的产生。由LCT基因编码的乳糖酶是乳糖消化所必需的。-13910C>T单核苷酸多态性（rs4988235）导致欧洲人群出现乳糖酶持续表达表型。我们在此研究了乳糖酶持续表达基因型是否也与巴西欧洲裔人群中的代谢综合征相关。本研究纳入了334名个体（平均年龄41岁），通过基于聚合酶链反应的方法对-13910C>T单核苷酸多态性进行基因分型。评估了临床数据，并使用卡方检验和多元逻辑回归分析测试了基因型对代谢综合征的独立影响。单因素分析显示，乳糖酶非持续表达基因型个体的高血压和代谢综合征患病率高于乳糖酶持续表达个体。此外，乳糖酶持续表达与较低的代谢综合征风险相关（比值比=0.467；95%置信区间0.264-0.824；p=0.009）。这些结果表明，LCT基因型可能是代谢综合征治疗管理的一个有价值的工具。
