Lack of association between MALAT1 rs591291 and rs3200401 polymorphisms and venous malformation risk in the Chinese pediatric population.

IF 2.2 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemistry and Biophysics Reports Pub Date : 2025-08-15 eCollection Date: 2025-09-01 DOI:10.1016/j.bbrep.2025.102209

Xi Lin, Jiantu Ou, Guitao Wu, Zhenyin Liu

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引用次数: 0

Abstract

Introduction: Venous malformations are the most common congenital vascular anomaly, accounting for 65 % of all congenital vascular abnormalities. This study aims to investigate the correlation between genetic polymorphisms of MALAT1 and the risk of developing venous malformations.

Methods: We collected samples and clinical data from a Chinese pediatric population (1113 patients and 1158 controls). Using real-time quantitative PCR, we performed TaqMan genotyping on MALAT1 rs591291 C > T and rs3200401 C > T polymorphisms and further analyzed the data through statistical methods.

Results: Sequencing results and analysis indicate that the MALAT1 rs591291 C > T and rs3200401 C > T polymorphisms are not significantly correlated with the risk of venous malformation. When combined both genotypes also present no statistic difference in increased risk of developing these anomalies (odds ratio = 0.90, 95 % confidence interval = 0.72-1.13, P = 0.354). Stratified analysis of different subtypes of venous malformations revealed that there was no statistic difference in the selected polymorphisms of MALAT1 across these subtypes.

Conclusion: Our findings suggested that MALAT1 rs591291 C > T and rs3200401 C > T polymorphisms were not correlated to the risk of venous malformation in the Chinese pediatric population.

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中国儿童MALAT1 rss591291和rs3200401多态性与静脉畸形风险缺乏相关性

简介：静脉畸形是最常见的先天性血管异常，占所有先天性血管异常的65%。本研究旨在探讨MALAT1基因多态性与静脉畸形发生风险的相关性。方法：我们收集了中国儿科人群（1113例患者和1158例对照组）的样本和临床资料。采用实时定量PCR技术对MALAT1 rss591291 C > T和rs3200401 C > T多态性进行TaqMan基因分型，并对数据进行统计学分析。结果：测序结果和分析显示，MALAT1 rs591291 C > T和rs3200401 C > T多态性与静脉畸形风险无显著相关。当两种基因型合并时，发生这些异常的风险增加也没有统计学差异（优势比= 0.90,95%置信区间= 0.72-1.13,P = 0.354）。对静脉畸形不同亚型的分层分析显示，在这些亚型中，MALAT1的选择多态性没有统计学差异。结论：我们的研究结果表明，MALAT1 rs591291 C > T和rs3200401 C > T多态性与中国儿童静脉畸形的风险无关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Biochemistry and Biophysics Reports Biochemistry, Genetics and Molecular Biology-Biophysics

CiteScore

4.60

自引率

0.00%

发文量

191

审稿时长

59 days

期刊介绍： Open access, online only, peer-reviewed international journal in the Life Sciences, established in 2014 Biochemistry and Biophysics Reports (BB Reports) publishes original research in all aspects of Biochemistry, Biophysics and related areas like Molecular and Cell Biology. BB Reports welcomes solid though more preliminary, descriptive and small scale results if they have the potential to stimulate and/or contribute to future research, leading to new insights or hypothesis. Primary criteria for acceptance is that the work is original, scientifically and technically sound and provides valuable knowledge to life sciences research. We strongly believe all results deserve to be published and documented for the advancement of science. BB Reports specifically appreciates receiving reports on: Negative results, Replication studies, Reanalysis of previous datasets.