CYP1A1 gene belongs to the cytochrome P450 family and is known better as smokers' gene due to its hyperactivation as a consequence of long term smoking. The expression of CYP1A1 induces polycyclic aromatic hydrocarbon production in the lungs, which when over expressed, is known to cause smoking related diseases, such as cardiovascular pathologies, cancer, and diabetes. Single nucleotide polymorphisms (SNPs) are the simplest form of genetic variations that occur at a higher frequency, and are denoted as synonymous and non-synonymous SNPs on the basis of their effects on the amino acids. This study adopts a systematic in silico approach to predict the deleterious SNPs that are associated with disease conditions. It is inferred that four SNPs are highly deleterious, among which the SNP with rs17861094 is commonly predicted to be harmful by all tools. Hydrophobic (isoleucine) to hydrophilic (serine) amino acid variation was observed in the candidate gene. Hence, this investigation aims to characterize a candidate gene from 159 SNPs of CYP1A1.

译文

:CYP1A1基因属于细胞色素P450家族,由于长期吸烟而过度激活,因此被称为吸烟者基因。 CYP1A1的表达诱导肺中多环芳烃的产生,而该表达过高时,已知会引起与吸烟有关的疾病,例如心血管疾病,癌症和糖尿病。单核苷酸多态性(SNP)是发生频率较高的最简单的遗传变异形式,根据其对氨基酸的影响,被称为同义和非同义SNP。这项研究采用系统的计算机模拟方法来预测与疾病状况相关的有害SNP。可以推断,四个SNP具有很高的有害性,其中rs17861094的SNP通常被所有工具认为是有害的。在候选基因中观察到疏水性(异亮氨酸)至亲水性(丝氨酸)氨基酸变化。因此,本研究旨在从CYP1A1的159个SNP中鉴定候选基因。

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