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严重子痫前期危险因素:启动子降钙素受体样受体(CRLR)基因中缺氧反应元件(HRE)附近的短串联重复序列而非HRE基因变异的初步研究

Short tandem repeat near hypoxia response element (HRE) instead of HRE genetic variants in promoter calcitonin receptor-like receptor (CRLR) gene as risk factor in severe preeclampsia: a preliminary study.

作者信息

Fitri Amelia Dwi, Syauqy Ahmad, Puspasari Anggelia, Enis Rina Nofri, Faried Ahmad

机构信息

Department of Obstetrics and Gynaecology, Division of Fetomaternal, Faculty of Medicine and Health Sciences, University of Jambi (FKIK UNJA)-Raden Mattaher General Hospital (RSRM), Jl. Letjen Soperapto 33, Jambi, 36122, Indonesia.

FKIK UNJA-RSRM, Jambi, Indonesia.

出版信息

BMC Res Notes. 2021 Jan 7;14(1):17. doi: 10.1186/s13104-020-05437-z.

DOI:10.1186/s13104-020-05437-z
PMID:33413630
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7792221/
Abstract

OBJECTIVE

Calcitonin receptor-like receptor (CRLR) regulates vasoconstriction and dilatation; the expression increases during hypoxia via activation of hypoxia response element (HRE) in CRLR gene promoter region. Variant in HRE, as well short tandem repeat (STR) variants near HRE in CRLR alters the gene expression. This study focused on a case-control study to investigate the expression of genetic typing CLRL promoter variant in pregnant women with severe preeclampsia and normal pregnancies, we also tried to describe interesting findings of the genetic expression in anemic patients in the severe preeclampsia group. Our aimed to observe the correlation of CRLR gene promoter variant and anemia in severe preeclampsia.

RESULTS

There was no nucleotide variant in HRE; CACA box prior to HRE varied in length (15-24); CACA box with length > 20 was used as cut off point. Hb was lower in CACA box length ≥ 21 (10.33 ± 1.57) vs. < 21 (11.01 ± 1.67; p = 0.391). CACA box polymorphism and anemia were correlated in severe preeclampsia (p = 0.005) OR 0.038 (CI 0.003-0.544); not in normal (p = 0.069).

摘要

目的

降钙素受体样受体(CRLR)调节血管收缩和舒张;在缺氧期间,通过激活CRLR基因启动子区域的缺氧反应元件(HRE),其表达增加。HRE中的变异以及CRLR中HRE附近的短串联重复序列(STR)变异会改变基因表达。本研究聚焦于一项病例对照研究,以调查严重子痫前期孕妇和正常孕妇中CLRL启动子变异的基因分型表达,我们还试图描述严重子痫前期组贫血患者基因表达的有趣发现。我们旨在观察严重子痫前期中CRLR基因启动子变异与贫血的相关性。

结果

HRE中无核苷酸变异;HRE之前的CACA框长度不同(15 - 24);以长度>20的CACA框作为截断点。CACA框长度≥21时血红蛋白(Hb)较低(10.33±1.57),而<21时较高(11.01±1.67;p = 0.391)。在严重子痫前期中,CACA框多态性与贫血相关(p = 0.005),比值比(OR)为0.038(95%置信区间[CI]为0.003 - 0.544);在正常孕妇中无相关性(p = 0.069)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fca7/7792221/b1d41c2100c1/13104_2020_5437_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fca7/7792221/b1d41c2100c1/13104_2020_5437_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fca7/7792221/b1d41c2100c1/13104_2020_5437_Fig1_HTML.jpg

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Expression of N-WASP is regulated by HiF1α through the hypoxia response element in the N-WASP promoter.N-WASP的表达受HiF1α通过N-WASP启动子中的缺氧反应元件调控。
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GPCRs as potential therapeutic targets in preeclampsia.G蛋白偶联受体作为子痫前期潜在的治疗靶点。
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