伊拉克人群痛风疾病slc2a9外显子8上多个snp的关联:一项分子研究

IF 0.8 Q4 GENETICS & HEREDITY Meta Gene Pub Date : 2021-12-01 DOI:10.1016/j.mgene.2021.100942

Rehab S. Ramdhan , Noora A. Hade , Rebah N. Algafari

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引用次数: 1

摘要

这项工作旨在揭示SLC2A9基因外显子8上编码GLUT9的DNA序列的变化，这可能在痛风疾病中起作用。为此纳入250例男性和150例女性患者，分布如下:痛风患者男性110例，女性15例，痛风合并糖尿病(T2DM)患者男性135例，女性90例，糖尿病合并高尿酸血症患者男性35例，女性15例，健康对照150例。每组获得的DNA序列分析显示，痛风患者中存在1个SNP和DNA缺失，痛风合并T2DM患者中存在5个SNP，高尿毒症合并T2DM患者中存在1个SNP伴rs734553。这些序列与对照的翻译和比对显示，在所调查的所有患者组中，氨基酸序列都发生了显著变化。DNA多态性、密码子使用偏倚和连锁不平衡显示，检测到的SNP与痛风有显著相关性，该基因24,706位的共同SNP可能与T2DM有关。该SNP在提交ID为MW2438870的情况下被发送到NCBI注册。

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Association of multiple SNPs at slc2a9 exon 8 in gout disease in Iraqi population: A molecular study

This work was planned to reveal changes in DNA sequence coding for GLUT9 by SLC2A9 gene at exon 8 that may be play a role in gout disease. For this reason 250 male and 150 female patients were involved distributed as follow: patients with gout included 110 male and 15 female, patients with gout and diabetes (T2DM) included 135 male and 90 female, and patients with diabetes and hyperuricemia were 35 male and 15 female and 150 healthy subject served as control. DNA sequence analysis of acquired from each group showed presence of one SNP and DNA deletion in patients with gout disease, five SNPs in patients with gout and T2DM, and one SNP accompanied with rs734553 in patients showing hyperurecemia and T2DM. Translation and alignment of these sequences with control showed significant change in amino acid sequence in all patient groups investigated. DNA polymorphism, codon usage bias, and linkage disequilibrium showed significant association of SNPs detected with gout, and common SNP at position 24,706 of the gene may be with T2DM. This SNP was sent for registration at NCBI under submission ID MW2438870.

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.