编码调节性钙调神经磷酸酶B亚基1型的基因中rs3039851插入/缺失与波兰足月新生儿左心室质量的关联。

Association of the rs3039851 Insertion/Deletion in the Gene , Which Encodes the Regulatory Calcineurin Subunit B Type 1, with Left Ventricular Mass in Polish Full-Term Newborns.

作者信息

Gorący Iwona, Łoniewska Beata, Lewandowska Klaudyna, Boroń Agnieszka, Grzegorczyk Małgorzata, Nowak Robert, Clark Jeremy Simon C, Ciechanowicz Andrzej

机构信息

Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, 70-111 Szczecin, Poland.

Department of Neonatal Diseases, Pomeranian Medical University, 70-111 Szczecin, Poland.

出版信息

Biomedicines. 2023 May 10;11(5):1415. doi: 10.3390/biomedicines11051415.

DOI:10.3390/biomedicines11051415

PMID:37239086

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10216023/

Abstract

BACKGROUND

The five base-pair (bp) insertion/deletion (rs3039851) polymorphism in the gene, which encodes calcineurin subunit B type 1, has been found to be associated with left ventricular hypertrophy (LVH) in hypertensive patients and in athletes. The aim of this study is to analyze the possible association between :rs3039851 polymorphism and left ventricular mass (LVM) in full-term healthy newborns.

METHODS

The study group consisted of 162 consecutive, full-term, healthy newborns. Two-dimensional M-mode echocardiography was used to assess LVM. The :rs3039851 polymorphism was identified by PCR-RFLP in genomic DNA extracted from cord blood leukocytes.

RESULTS

No significant differences were found between newborns homozygous for the reference allele (5I/5I, n = 135) and newborns carrying at least one 5D allele (n = 27) for LVM standardized for body mass, body length or body surface area (LVM/BM, LVM/BL or LVM/BSA, respectively). However, the frequency of :rs3039851 genotypes with a 5D allele (5I/5D + 5D/5D) among newborns with the largest LVM/BM or LVM/BSA (upper tertile) was statistically significantly higher compared with the prevalence in individuals with the lowest values of both indices (lower tertile).

CONCLUSIONS

Our results suggest that the :rs3039851 polymorphism may contribute to subtle variation in left ventricular mass at birth.

摘要

背景

编码钙调神经磷酸酶B亚基1型的基因中的5个碱基对（bp）插入/缺失（rs3039851）多态性，已被发现与高血压患者和运动员的左心室肥厚（LVH）相关。本研究的目的是分析rs3039851多态性与足月健康新生儿左心室质量（LVM）之间的可能关联。

方法

研究组由162例连续的足月健康新生儿组成。采用二维M型超声心动图评估LVM。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）鉴定从脐血白细胞中提取的基因组DNA中的rs3039851多态性。

结果

对于根据体重、身长或体表面积标准化的LVM（分别为LVM/BM、LVM/BL或LVM/BSA），参考等位基因纯合的新生儿（5I/5I，n = 135）与携带至少一个5D等位基因的新生儿（n = 27）之间未发现显著差异。然而，与LVM/BM或LVM/BSA值最低的个体（下三分位数）相比，LVM/BM或LVM/BSA最大的新生儿（上三分位数）中具有5D等位基因的rs3039851基因型频率在统计学上显著更高。