Luévano K E, González J R, Perea F J, Magaña M T
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
Ann Hum Biol. 2009 Mar-Apr;36(2):211-9. doi: 10.1080/03014460902725260.
The microsomal triglyceride transfer protein plays an important role in the folding, assembling and secretion of lipoproteins that contain apoprotein B. Different polymorphisms in the MTTP gene have been associated with risk factors for coronary heart disease and diabetes, the first and fourth most common causes of death in Mexico, respectively.
The objective of this study was to assess allele, genotype and haplotype frequencies of six MTTP polymorphisms in an unselected Mexican population.
Six polymorphisms were analysed by DNA sequencing of polymerase chain reaction products in 155 Mexican individuals and Hardy-Weinberg equilibrium, genetic variability, linkage disequilibrium and neutrality test were evaluated.
The rare alleles of the six polymorphisms analysed had frequencies greater than 1% and their genotype distributions were in accordance with Hardy-Weinberg equilibrium. All three promoter and I/T 128 polymorphisms were in linkage disequilibrium. Twelve different haplotypes were observed; GATGGT (70.44%) and TTCGGC (13.91%) were the most common. Diversity patterns in this Mexican population deviate significantly from expectations of the standard neutral model for infinite allele.
The -493 G/T, -400 A/T, -164 T/C and I/T 128 polymorphisms can be useful for association studies in this population.
微粒体甘油三酯转运蛋白在含有载脂蛋白B的脂蛋白的折叠、组装和分泌中起重要作用。MTTP基因中的不同多态性分别与冠心病和糖尿病的危险因素相关，而冠心病和糖尿病是墨西哥分别位列第一和第四的最常见死因。
本研究的目的是评估未经过挑选的墨西哥人群中六种MTTP多态性的等位基因、基因型和单倍型频率。
通过对155名墨西哥个体的聚合酶链反应产物进行DNA测序分析六种多态性，并评估哈迪-温伯格平衡、遗传变异性、连锁不平衡和中性检验。
所分析的六种多态性的罕见等位基因频率大于1%，其基因型分布符合哈迪-温伯格平衡。所有三种启动子和I/T 128多态性均处于连锁不平衡状态。观察到12种不同的单倍型；GATGGT（70.44%）和TTCGGC（13.91%）最为常见。该墨西哥人群的多样性模式明显偏离无限等位基因标准中性模型的预期。
-493 G/T、-400 A/T、-164 T/C和I/T 128多态性可用于该人群的关联研究。
