Gorący Iwona, Miler Karol, Lewandowska Klaudyna, Rychel Monika, Łoniewska Beata, Ciechanowicz Andrzej
Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, 70-111 Szczecin, Poland.
Department of Neonatal Diseases, Pomeranian Medical University, 70-111 Szczecin, Poland.
Genes (Basel). 2025 Apr 29;16(5):518. doi: 10.3390/genes16050518.
BACKGROUND/OBJECTIVES: Left ventricular hypertrophy is a significant independent risk factor for increased cardiovascular morbidity and mortality. There are some reports indicating an association of rs1403543 (1675G>A) polymorphism in the gene, which encodes the type-2 angiotensin II receptor, with left ventricular hypertrophy or increased left ventricular mass (LVM) in adults. The aim of this study was to analyze the possible association of the :rs1403543 polymorphism with LVM in full-term Polish healthy newborns.
The study group comprised 207 consecutive, full-term, healthy newborns. LVM was assessed, on the 3rd day after birth, from the M-mode echocardiographic measurements of left ventricular dimensions using the Penn convention, with the Huwez et al.-modified equation mode. The polymorphism was identified by PCR-RFLP in genomic DNA extracted from cord blood leukocytes.
There were no significant differences in clinical and echocardiographic characteristics of male newborns in regard to the :rs1403543 polymorphism. However, the LVM/body mass ratio in female newborns carrying at least one A allele (i.e., with genotype GA or AA) was significantly lower as compared to its value in reference (GG) homozygotes. In addition, in female newborns, the frequency of genotypes with at least one A allele was significantly higher in the lower tertile of LVM/body mass or LVM/body surface area (calculated using the Mosteller formula) ratios as compared with upper tertiles.
Our results suggest that the :rs1403543 polymorphism may be associated with the physiological variability of cardiac mass in female newborns.
背景/目的:左心室肥厚是心血管疾病发病率和死亡率增加的一个重要独立危险因素。有一些报告表明,编码2型血管紧张素II受体的基因中rs1403543(1675G>A)多态性与成年人的左心室肥厚或左心室质量(LVM)增加有关。本研究的目的是分析rs1403543多态性与波兰足月健康新生儿LVM之间的可能关联。
研究组包括207例连续的足月健康新生儿。出生后第3天,采用Penn惯例,通过M型超声心动图测量左心室尺寸,并使用Huwez等人修改的公式模式评估LVM。通过PCR-RFLP在从脐血白细胞中提取的基因组DNA中鉴定该多态性。
就rs1403543多态性而言,男性新生儿的临床和超声心动图特征没有显著差异。然而,携带至少一个A等位基因(即基因型为GA或AA)的女性新生儿的LVM/体重比明显低于参考(GG)纯合子。此外,在女性新生儿中,与较高三分位数相比,LVM/体重或LVM/体表面积(使用Mosteller公式计算)比值较低三分位数中至少有一个A等位基因的基因型频率明显更高。
我们的结果表明,rs1403543多态性可能与女性新生儿心脏质量的生理变异性有关。