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Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study

The development of congenital heart disease (CHD) is a complicated process and affected by multiple environmental factors, as genetic factors, and the interactions among those factors. Previous studies have shown that intrauterine hypoxic environment exposure is a risk factor of CHD, but the genetic...

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Autores principales: Yang, Wenke, Yi, Kang, Yu, Hongmiao, Ding, Yunhan, Li, Dehong, Wei, Yuping, You, Tao, Xie, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6657426/
https://www.ncbi.nlm.nih.gov/pubmed/31144180
http://dx.doi.org/10.1007/s11356-019-05350-4
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author Yang, Wenke
Yi, Kang
Yu, Hongmiao
Ding, Yunhan
Li, Dehong
Wei, Yuping
You, Tao
Xie, Xiaodong
author_facet Yang, Wenke
Yi, Kang
Yu, Hongmiao
Ding, Yunhan
Li, Dehong
Wei, Yuping
You, Tao
Xie, Xiaodong
author_sort Yang, Wenke
collection PubMed
description The development of congenital heart disease (CHD) is a complicated process and affected by multiple environmental factors, as genetic factors, and the interactions among those factors. Previous studies have shown that intrauterine hypoxic environment exposure is a risk factor of CHD, but the genetic factors involved in the process are not clear. In this study, given that tetralogy of Fallot (TOF) is a CHD with hypoxemia as its primary pathophysiological manifestation, an in silico analysis was performed to reveal the relationship between potential target genes (miR-124) with the energy metabolism in non-syndromic TOF patients’ cardiomyocyte. Furthermore, the study investigated the correlation between the primary miR-124 (rs531564) polymorphism and CHD susceptibility in 432 sporadic patients and 450 controls from two different altitude provinces (city) in China. Our study indicated that the minor C allele of rs531564 correlated with reduced risk of CHD in the low altitude city. Besides, the C allele has elevated frequency in the high-altitude group. Therefore, our findings suggest that the minor C allele of rs531564 SNP may be involved in the reduction of the risk of CHD in a way that interacts with the intrauterine hypoxic environmental factors. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s11356-019-05350-4) contains supplementary material, which is available to authorized users.
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spelling pubmed-66574262019-08-09 Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study Yang, Wenke Yi, Kang Yu, Hongmiao Ding, Yunhan Li, Dehong Wei, Yuping You, Tao Xie, Xiaodong Environ Sci Pollut Res Int Research Article The development of congenital heart disease (CHD) is a complicated process and affected by multiple environmental factors, as genetic factors, and the interactions among those factors. Previous studies have shown that intrauterine hypoxic environment exposure is a risk factor of CHD, but the genetic factors involved in the process are not clear. In this study, given that tetralogy of Fallot (TOF) is a CHD with hypoxemia as its primary pathophysiological manifestation, an in silico analysis was performed to reveal the relationship between potential target genes (miR-124) with the energy metabolism in non-syndromic TOF patients’ cardiomyocyte. Furthermore, the study investigated the correlation between the primary miR-124 (rs531564) polymorphism and CHD susceptibility in 432 sporadic patients and 450 controls from two different altitude provinces (city) in China. Our study indicated that the minor C allele of rs531564 correlated with reduced risk of CHD in the low altitude city. Besides, the C allele has elevated frequency in the high-altitude group. Therefore, our findings suggest that the minor C allele of rs531564 SNP may be involved in the reduction of the risk of CHD in a way that interacts with the intrauterine hypoxic environmental factors. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s11356-019-05350-4) contains supplementary material, which is available to authorized users. Springer Berlin Heidelberg 2019-05-29 2019 /pmc/articles/PMC6657426/ /pubmed/31144180 http://dx.doi.org/10.1007/s11356-019-05350-4 Text en © The Author(s) 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Research Article
Yang, Wenke
Yi, Kang
Yu, Hongmiao
Ding, Yunhan
Li, Dehong
Wei, Yuping
You, Tao
Xie, Xiaodong
Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study
title Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study
title_full Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study
title_fullStr Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study
title_full_unstemmed Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study
title_short Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study
title_sort correlation between pri-mir-124 (rs531564) polymorphism and congenital heart disease susceptibility in chinese population at two different altitudes: a case-control and in silico study
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6657426/
https://www.ncbi.nlm.nih.gov/pubmed/31144180
http://dx.doi.org/10.1007/s11356-019-05350-4
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