The Study of rs693 and rs515135 in APOB in People with Familial Hypercholestrolemia.
The Study of rs693 and rs515135 in APOB in People with Familial Hypercholestrolemia.
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DOI：
10.22074/cellj.2019.5692
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发表时间：
2019-04
期刊：
影响因子：
2
通讯作者：
Houshmand M
中科院分区：
文献类型：
--
作者：
Karami F;Salahshourifar I;Houshmand M
APOB相关家族性高胆固醇血症（FH）是最常见的常染色体显性遗传性高胆固醇血症。许多APOB变异是高胆固醇血症最重要的危险因素。APOB是一种大的糖蛋白，在人体内脂蛋白的代谢中起重要作用。APOB结构和功能的微小变化可引起脂质代谢的重大问题。两种形式的APOB由基因复制的编辑过程产生。APOB 48是小肠中乳糜微粒产生所必需的，APOB 100是肝脏中极低密度脂蛋白（VLDL）产生所必需的，也是介导LDL内吞作用的LDL受体（LDLR）的配体。 本研究采用病例对照研究方法，对120例家族性高胆固醇血症患者和120名正常对照进行了APOB基因第26外显子rs693和5 '端rs 515135单核苷酸多态性（SNPs）分析。两种SNP均通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因分型，其中PCR产物用识别每个单核苷酸多态性的特异性限制性内切酶消化。 本研究采用比值比（OR）及其95%可信区间（CI）分析两个SNPs与家族性高胆固醇血症易感性的关系。统计学分析表明，两个SNP位点均处于哈代-温伯格平衡。 我们发现rs 515135和家族性高胆固醇血症之间没有显著关系。然而，rs693的C等位基因与家族性高胆固醇水平之间存在显著关联。此外，似乎T等位基因出现的显性模式在疾病的出现中具有保护作用。
APOB-related familial hypercholesterolemia (FH) is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Small changes in the structure and function of APOB can cause major problems in lipid metabolism. Two forms of APOB are produced by an editing process of gene replication. APOB48 is required for the production of chylomicrons in the small intestine and APOB100 is essential in liver for the production of very low density lipoprotein (VLDL) and is also a ligand for LDL receptor (LDLR) that mediates LDL endocytosis. In this case-control study, rs693 (in exon 26 of APOB) and rs515135 (5 'end of APOB) single nucleotide polymorphisms (SNPs) were analyzed in 120 cases of familial hypercholesterolemia and 120 controls. Both SNPs were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) where PCR products were digested with specific restriction enzymes recognising each single nucleotide polymorphism. This study was analyzed by odds-ratio (OR) and its 95% confidence interval (CI) to examine the association of the two SNPs with familial hypercholostermia susceptibility. Statistical analysis showed that both SNPs were in Hardy- Weinberg equilibrium. We found no significant relationship between rs515135 and familiar hypercholesterolemia. However, there was a significant association between the C allele of rs693 and high familial cholesterol levels. Furthermore, it seems the dominant model of T allele occurrence has a protective role in emergence of disease.