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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia
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Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia

机译：CP，ATOX1和COMMD1基因在拉脱维亚威尔逊病症状的变异组合

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Wilsona??s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilsona??s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on the basis of Leipziga??s diagnostic criteria, 64 unrelated patients with confirmed WD. Direct sequencing of promoter region of the CP gene and ATOX1 and COMMD1 gene exons was conducted. Statistically significant differences were found between the two variants in the CP gene and the ATP7B genotype (rs66508328 variant AA genotype and the rs11708215 variant GG genotype) were more common in WD patients with an unconfirmed ATP7B genotype. One allelic (intronic) variant was found in the ATOX1 gene without causing the functional changes of the gene. Three allelic variants were identified in the COMMD1 gene. No statistically significant differences were found between allele and genotype frequencies and the first clinical manifestations of WD. Different variants of the CP gene contributed to a WD-like phenotype in clinically confirmed WD patients with neurological symptoms and without identified pathogenic variants in the ATP7B gene. Allelic variants in the ATOX1 and COMMD1 genes do not modify the clinical manifestation of WD in Latvian patients. (266 words)
机译：Wilsona ?? S病（WD）是一种铜代谢障碍，由ATP7B基因的等位基因变异引起。 Wilsona ?? S病可以通过临床症状诊断，铜增加和秘帽下降，这也可以通过除ATP7B基因之外的其他遗传变异，例如，扰乱的刺刺素生物合成，可以是由CP基因的致病等位基因变异引起的。生物体中的铜代谢受几种分子的影响，但致病变体和相关表型描述了Commd1和Atox1基因。该研究的目的是测试其他基因，CP，ATOX1和COMMD1，可能影响WD的表现。患者在Leipziga的诊断标准的基础上注册，64名无关患者的确认WD。进行CP基因和ATOX1和COMMD1基因外显子的直接测序。在CP基因和ATP7B基因型中的两个变体之间发现了统计学显着的差异（RSP7B基因型（RS66508328变异AA基因型和RS11708215变异GG基因型）在WD患者中更常见，具有未经证实的ATP7B基因型。在ATOX1基因中发现了一种等位基因（内肠道）变体，而不会导致基因的功能变化。在Commd1基因中鉴定了三个等位基因变体。在等位基因和基因型频率和WD的第一个临床表现之间没有发现统计学上显着的差异。 CP基因的不同变体导致临床上的WD样表型在临床证实的WD患者中具有神经系统症状，并且在ATP7B基因中没有鉴定的致病变异。 ATOX1和COMMD1基因中的等位基因变体不会改变拉脱维亚患者WD的临床表现。 （266字）

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