A common variant of the PAX2 gene is associated with reduced newborn kidney size
A common variant of the PAX2 gene is associated with reduced newborn kidney size
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DOI：
10.1681/asn.2006101107
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发表时间：
2007-06-01
影响因子：
13.6
通讯作者：
Goodyer, Paul
中科院分区：
文献类型：
--
作者：
Quinlan, Jacklyn;Lemire, Mathieu;Goodyer, Paul
先天性肾单位数目在人类群体中范围很广。次优的肾单位数目可能与原发性高血压的风险增加和肾损伤的易感性有关，但在肾脏发育过程中设定肾单位数目的因素尚不清楚。在肾缺损综合征中，肾发育不全和肾单位数目减少是由于PAX2基因的杂合突变。本研究检测了PAX2基因的一种常见单倍型与正常新生儿轻微肾发育不全之间的关联。PAX2单倍型在18.5%的新生儿队列中发生，这与根据体表面积调整的新生儿肾脏体积减少10%显著相关。该单倍型也与人肾细胞癌细胞系中等位基因特异性PAX2 mRNA水平降低相关。正常新生儿的轻微肾发育不全可能部分是由于PAX2基因的一种常见变体，该变体在肾脏发育过程中降低mRNA表达。
Congenital nephron number ranges widely in the human population. Suboptimal nephron number may be associated with increased risk for essential hypertension and susceptibility to renal injury, but the factors that set nephron number during kidney development are unknown. In renal-coloboma syndrome, renal hypoplasia and reduced nephron number are due to heterozygous mutations of the PAX2 gene. This study tested for an association between a common haplotype of the PAX2 gene and subtle renal hypoplasia in normal newborns. A PAX2 haplotype was identified to occur in 18.5% of the newborn cohort, which was significantly associated with a 10% reduction in newborn kidney volume adjusted for body surface area. This haplotype was also associated with reduced allele-specific PAX2 mRNA level in a human renal cell carcinoma cell line. Subtle renal hypoplasia in normal newborns may be partially due to a common variant of the PAX2 gene that reduces mRNA expression during kidney development.