中国人群多巴胺受体D2基因多态性及其与血脂异常的相关性分析

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-09-13 DOI:10.1159/000533637

Haibo Tan, Zhixue Wang, Jiaxuan Zhang, Maohua Huang, Jide Chen, Fengqi Li, Liangjun Tang

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引用次数: 0

摘要

& lt; b> & lt; i>目的:& lt; / i> & lt; / b>本研究旨在探讨中国汉族血脂异常人群多巴胺d2样受体(DRD2)基因-141C和C957T多态性的基因型和等位基因分布及其与血脂水平的关系。& lt; b> & lt; i>方法:& lt; / i> & lt; / b>150名血脂异常患者和150名健康人分别被招募为病例组和对照组。检测血清总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇水平。DRD2多态性通过聚合酶链反应扩增，并通过Sanger测序进行基因分型。& lt; b> & lt; i>结果:& lt; / i> & lt; / b>在& lt; i> DRD2检测到C957T (rs6277)基因、CC、CT、TT 3种基因型，血脂异常组的频率分别为92.67%、6.67%、0.67%，对照组的频率分别为83.33%、14.67%、2.00%。病例组CT基因型和T等位基因频率明显低于对照组。经其他临床指标调整后，C957T多态性的CT基因型(风险比= 0.401,95%可信区间= 0.181 ~ 0.890，p, lt;0.05)仍与显著降低血脂异常风险相关。C957T CT基因型携带者血清TC、TG、LDL值最低，HDL-C值最高。& lt; b> & lt; i>结论:& lt; / i> & lt; / b>& lt; i> DRD2C957T基因多态性是与血脂异常易感性相关的独立影响因素，CT基因型与血脂异常易感性降低相关。

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Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population

Objective: The study aimed to explore the genotype and allele distributions of dopamine D2-like receptor (DRD2) gene -141C and C957T polymorphisms in the Chinese Han population with dyslipidemia, as well as their association with serum lipid levels. Methods: One hundred fifty patients with dyslipidemia and 150 healthy people were recruited as the case and the control groups, respectively. Serum total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol levels were detected. The target sequence of DRD2 polymorphisms was amplified by polymerase chain reaction and genotyped via Sanger sequencing. Results: In DRD2 gene C957T (rs6277), three genotypes of CC, CT, and TT were detected with the frequencies of 92.67%, 6.67%, 0.67% in dyslipidemia cases, and 83.33%, 14.67%, 2.00% in the controls, respectively. The CT genotype and T allele frequencies were significantly low in the case group relative to the control group. After adjusting to other clinical indicators, the CT genotype of C957T polymorphism (hazard ratio = 0.401, 95% confidence interval = 0.181–0.890, p < 0.05) was still related to a significantly reduced risk of dyslipidemia. The C957T CT genotype carriers had the lowest values of serum TC, TG, LDL, and the highest values of serum HDL-C. Conclusion: DRD2 gene C957T polymorphism was an independent influencing factor associated with the susceptibility to dyslipidemia, and the CT genotype was associated with decreased odds of susceptibility to dyslipidemia.

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.