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PTPRD 基因变异 rs10739150:高血压诊断中的潜在变革因素。

PTPRD gene variant rs10739150: A potential game-changer in hypertension diagnosis.

机构信息

Department of Biotechnology and Genetic Engineering, Faculty of Science and Arts, Jordan University of Science and Technology, Irbid, Jordan.

Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, MA, United States of America.

出版信息

PLoS One. 2024 Jun 27;19(6):e0304950. doi: 10.1371/journal.pone.0304950. eCollection 2024.

Abstract

BACKGROUND

High blood pressure, also known as hypertension (HTN), is a complicated disorder that is controlled by a complex network of physiological processes. Untreated hypertension is associated with increased death incidence, rise the need for understanding the genetic basis affecting hypertension susceptibility and development. The current study sought to identify the genetic association between twelve single nucleotide polymorphisms (SNPs) within seven candidate genes (NOS3, NOS1AP, REN, PLA2G4A, TCF7L, ADRB1, and PTPRD).

METHODS

The current study included 200 Jordanian individuals diagnosed with hypertension, compared to 224 healthy controls. Whole blood samples were drawn from each individual for DNA isolation and genotyping. The SNPStats tool was used to assess haplotype, genotype, and allele frequencies by the mean of chi-square (χ2).

RESULTS

Except for rs10739150 of PTPRD (P = 0.0003), the genotypic and allelic distribution of the SNP was identical between patients and controls. The prevalence of the G/G genotype in healthy controls (45.5%) was lower than in hypertension patients (64.3%), suggesting that it might be a risk factor for the disease. PTPRD TTC genetic haplotypes were strongly linked with hypertension (P = 0.003, OR = 4.03).

CONCLUSION

This study provides a comprehensive understanding of the involvement of rs10739150 within the PTPRD gene in hypertension. This new knowledge could potentially transform the way we approach hypertension diagnosis, providing an accurate diagnostic tool for classifying individuals who are at a higher risk of developing this condition.

摘要

背景

高血压,又称高血压(HTN),是一种复杂的疾病,由复杂的生理过程网络控制。未经治疗的高血压与死亡率增加有关,因此需要了解影响高血压易感性和发展的遗传基础。本研究旨在确定七个候选基因(NOS3、NOS1AP、REN、PLA2G4A、TCF7L、ADRB1 和 PTPRD)内的 12 个单核苷酸多态性(SNP)与遗传的关联。

方法

本研究包括 200 名约旦高血压患者,与 224 名健康对照进行比较。从每个个体抽取全血样本用于 DNA 分离和基因分型。使用 SNPStats 工具通过卡方(χ2)均值评估单倍型、基因型和等位基因频率。

结果

除了 PTPRD 的 rs10739150(P = 0.0003)之外,SNP 的基因型和等位基因分布在患者和对照组之间是相同的。健康对照组中 G/G 基因型的流行率(45.5%)低于高血压患者(64.3%),表明其可能是该疾病的危险因素。PTPRD TTC 遗传单倍型与高血压密切相关(P = 0.003,OR = 4.03)。

结论

本研究提供了对 PTPRD 基因内 rs10739150 参与高血压的全面了解。这种新知识可能会改变我们对高血压诊断的方法,为我们提供一种用于分类具有更高患这种疾病风险的个体的准确诊断工具。

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Genomics of hypertension: the road to precision medicine.高血压的基因组学:通向精准医学之路。
Nat Rev Cardiol. 2021 Apr;18(4):235-250. doi: 10.1038/s41569-020-00466-4. Epub 2020 Nov 20.

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