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本文引用的文献

1
Mouse models for the p53 R72P polymorphism mimic human phenotypes.携带 p53 R72P 多态性的小鼠模型模拟人类表型。
Cancer Res. 2010 Jul 15;70(14):5851-9. doi: 10.1158/0008-5472.CAN-09-4646. Epub 2010 Jun 29.
2
Connecting obesity, aging and diabetes.连接肥胖、衰老与糖尿病。
Nat Med. 2009 Sep;15(9):996-7. doi: 10.1038/nm0909-996.
3
A crucial role for adipose tissue p53 in the regulation of insulin resistance.脂肪组织中的p53在胰岛素抵抗调节中起关键作用。
Nat Med. 2009 Sep;15(9):1082-7. doi: 10.1038/nm.2014. Epub 2009 Aug 30.
4
Genetic variations in regulatory pathways of fatty acid and glucose metabolism are associated with obesity phenotypes: a population-based cohort study.脂肪酸和葡萄糖代谢调节途径的遗传变异与肥胖表型相关:一项基于人群的队列研究。
Int J Obes (Lond). 2009 Oct;33(10):1143-52. doi: 10.1038/ijo.2009.152. Epub 2009 Aug 4.
5
Genome-wide association study identifies eight loci associated with blood pressure.全基因组关联研究鉴定出与血压相关的 8 个位点。
Nat Genet. 2009 Jun;41(6):666-76. doi: 10.1038/ng.361. Epub 2009 May 10.
6
Genome-wide association study of blood pressure and hypertension.全基因组关联研究血压和高血压。
Nat Genet. 2009 Jun;41(6):677-87. doi: 10.1038/ng.384. Epub 2009 May 10.
7
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.全基因组扫描确定CDH13是一个新的易感基因座,在两个欧洲人群中对血压测定有影响。
Hum Mol Genet. 2009 Jun 15;18(12):2288-96. doi: 10.1093/hmg/ddp135. Epub 2009 Mar 20.
8
p53 polymorphisms: cancer implications.p53基因多态性:对癌症的影响
Nat Rev Cancer. 2009 Feb;9(2):95-107. doi: 10.1038/nrc2584.
9
From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.封面文章:全基因组关联研究确定STK39为高血压易感基因。
Proc Natl Acad Sci U S A. 2009 Jan 6;106(1):226-31. doi: 10.1073/pnas.0808358106. Epub 2008 Dec 29.
10
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.对一个奠基者群体出生队列中的代谢性状进行全基因组关联分析。
Nat Genet. 2009 Jan;41(1):35-46. doi: 10.1038/ng.271. Epub 2008 Dec 7.

TP53 基因 72 密码子多态性(rs1042522)与舒张压随时间的变化有关。

Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time.

机构信息

National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.

出版信息

Eur J Hum Genet. 2012 Jun;20(6):696-700. doi: 10.1038/ejhg.2011.240. Epub 2011 Dec 21.

DOI:10.1038/ejhg.2011.240
PMID:22189267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3355249/
Abstract

p53 is involved in stress response, metabolism and cardiovascular functioning. The C-allele of rs1042522 in the gene encoding for p53 is associated with longevity and cancer. In this study, we aimed to investigate the association of rs1042522 with changes in blood pressure, BMI and waist circumference using a longitudinal approach. Rs1042522 was analyzed in two longitudinal studies; the Doetinchem Cohort Study (DCS) and the Botnia Prospective Study (BPS). Changes in quantitative traits over time were investigated according to rs1042522 genotypes. An association between rs1042522 and changes in diastolic blood pressure (DBP) in the DCS over time was observed (P=0.004). Furthermore, a borderline significant association was detected with changes in waist circumference over time (P=0.03). These findings were also observed in the BPS (P=0.02 and P=0.05). The C/C-genotype (Pro/Pro) showed the most moderate time-related increase for the studied endpoints. Furthermore, data from the BPS suggested that the C/C-genotype protects against increases in glucose levels over time at 30 and 60 min during oral glucose tolerance test (P=0.01 and P=0.02). In conclusion, we found an association between the C/C-genotype of rs1042522 and changes in DBP and waist circumference over time. This might contribute to the longevity phenotype observed for the same genotype by others.

摘要

p53 参与应激反应、代谢和心血管功能。编码 p53 的基因中的 rs1042522 的 C 等位基因与长寿和癌症有关。在这项研究中,我们旨在使用纵向方法研究 rs1042522 与血压、BMI 和腰围变化的相关性。rs1042522 在两项纵向研究中进行了分析;多廷赫姆队列研究(DCS)和博特尼亚前瞻性研究(BPS)。根据 rs1042522 基因型,研究了随时间变化的定量特征的变化。观察到 DCS 中 rs1042522 与随时间变化的舒张压(DBP)之间存在关联(P=0.004)。此外,还检测到与随时间变化的腰围之间存在边缘显著相关性(P=0.03)。在 BPS 中也观察到了这些发现(P=0.02 和 P=0.05)。C/C 基因型(Pro/Pro)显示出研究终点的最中度时间相关增加。此外,BPS 的数据表明,C/C 基因型在口服葡萄糖耐量试验期间 30 分钟和 60 分钟时可预防葡萄糖水平随时间的升高(P=0.01 和 P=0.02)。总之,我们发现 rs1042522 的 C/C 基因型与随时间变化的 DBP 和腰围变化之间存在关联。这可能有助于解释其他人观察到的相同基因型的长寿表型。