伊拉克高脂血症患者 PCSK9 基因多态性对阿托伐他汀疗效的影响

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-02-28 DOI:10.1016/j.genrep.2025.102181

Khalid Qasim Mohammed , Mazin H. Ouda , Suzanne Jubair

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引用次数: 0

摘要

背景：在当地高脂血症人群中的许多临床观察表明，尽管接受了阿托伐他汀治疗，许多人仍然经历胆固醇和低密度脂蛋白（LDL）水平升高。蛋白转化酶枯草素/键合蛋白9型（PCSK9）在调节LDL代谢中起关键作用。本研究探讨rs28942111；T比;PCSK9基因单核苷酸多态性（SNP）对伊拉克高脂血症患者阿托伐他汀治疗效果的影响方法：这项横断面研究纳入了149名伊拉克患者，年龄在28至85岁之间，男性和女性，诊断为原发性高脂血症，并口服阿托伐他汀（40mg）治疗至少6个月。采用等位基因特异性聚合酶链反应技术进行rs28942111 SNP基因的遗传分析。结果rs28942111基因型分布明显；T比;结果显示，128例（85.9%）患者为TT携带者，21例（14.1%）患者为AA携带者，未检测到杂合突变型。与TT携带者相比，AA携带者的LDL、总胆固醇（TC）和天冬氨酸转氨酶水平显著升高（p值= 0.001）。结论PCSK9基因rs28942111 SNP与较高的LDL和TC水平显著相关，提示该SNP可能在伊拉克高脂血症患者阿托伐他汀治疗反应中发挥重要作用。

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Impact of PCSK9 gene polymorphism on atorvastatin efficacy in Iraqi hyperlipidemic patients

Background

Many clinical observations within the local hyperlipidemic population indicate that many individuals continue to experience elevated cholesterol and low-density lipoprotein (LDL) levels despite being treated with atorvastatin. Proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a crucial role in regulating LDL metabolism. This study investigates the impact of the rs28942111; T > A single nucleotide polymorphism (SNP) in PCSK9 gene on the effectiveness of atorvastatin therapy among hyperlipidemic patients in Iraq.

Methodology

This cross-sectional study involved 149 Iraqi patients, male and female aged 28 to 85 years, who were diagnosed with primary hyperlipidemia and had been treated with oral atorvastatin (40 mg) for a minimum of six months. The lipid profiles and liver function were evaluated, the genetic analysis to identify the rs28942111 SNP was performed using the allele-specific polymerase chain reaction technique.

Results

The distribution of genotypes for the rs28942111; T > A SNP revealed that 128 patients (85.9 %) were TT carriers, while 21 patients (14.1 %) were AA carriers, no heterozygous mutant type was detected. Significant high levels of LDL, total cholesterol (TC), and aspartate transaminase were observed among the AA carriers compared to TT carriers (p-value equals to 0.001).

Conclusion

The rs28942111 SNP in the PCSK9 gene is significantly associated with higher LDL and TC levels, this suggests that this SNP might play an important role in the therapeutic response to atorvastatin among hyperlipidemic patients in Iraq.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.