1Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Poland.
J Renin Angiotensin Aldosterone Syst. 2013 Dec;14(4):369-74. doi: 10.1177/1470320312448948. Epub 2012 Jun 6.
The number of nephrons is a multifactorial trait controlled by the interaction of environmental factors and genetic variants that influence the extent of branching nephrogenesis during foetal life. A correlation between renal mass and nephron number in newborns allows the use of the total kidney volume at birth as a surrogate for congenital nephron number. Since the renin-angiotensin system plays an important role in renal development we hypothesized that the common, functional insertion/deletion (I/D) polymorphism in the ACE gene might be responsible for the variation in kidney size amongst healthy individuals. We recruited 210 healthy Polish full-term newborns born to healthy women with uncomplicated pregnancies. The kidney volume was measured sonographically. Total kidney volume (TKV) was calculated as the sum of left kidney volume and right kidney volume. TKV was normalized to body surface area (TKV/BSA). The I and D alleles were identified using polymerase chain reaction. TKV/BSA in newborns carrying at least one insertion ACE allele was significantly reduced by approximately 8% as compared with homozygous newborns for the D allele (DD genotype) (105.1±23.6 vs. 114.2±28.2 cm(3)/m(2), p<0.05). The results of this study suggest that I/D ACE polymorphism may account for subtle variation in kidney size at birth, which reflects congenital nephron endowment.
肾单位数量是一个受环境因素和遗传变异相互作用控制的多因素特征，这些遗传变异影响胎儿期分支肾发生的程度。新生儿肾质量和肾单位数量之间的相关性使得可以将出生时的总肾体积用作先天性肾单位数量的替代物。由于肾素-血管紧张素系统在肾脏发育中起重要作用，我们假设 ACE 基因中的常见功能插入/缺失（I/D）多态性可能是健康个体之间肾脏大小变化的原因。我们招募了 210 名来自健康女性的健康足月波兰新生儿，这些女性的妊娠无并发症。使用超声测量肾脏体积。总肾体积（TKV）计算为左肾体积和右肾体积之和。将 TKV 标准化为体表面积（TKV/BSA）。使用聚合酶链反应鉴定 I 和 D 等位基因。与 D 等位基因纯合子（DD 基因型）的新生儿相比，携带至少一个插入 ACE 等位基因的新生儿的 TKV/BSA 显著降低约 8%（105.1±23.6 与 114.2±28.2 cm(3)/m(2)，p<0.05）。这项研究的结果表明，I/D ACE 多态性可能导致出生时肾脏大小的细微变化，这反映了先天性肾单位的赋予。
