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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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.</div></div><div><h3>Methodology</h3><div>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.</div></div><div><h3>Results</h3><div>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. 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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.