No evidence for AT2R gene derangement in human urinary tract anomalies

Masahiro Hiraoka, Takanobu Taniguchi, Hideo Nakai, Minoru Kino, Yuusaku Okada, Akihiko Tanizawa, Hirokazu Tsukahara, Yusei Ohshima, Ikunobu Muramatsu, Mitsufumi Mayumi

Research output: Contribution to journalArticlepeer-review

41 Citations (Scopus)


Background. It has been recently found that mice, especially males, with a disrupted angiotensin type 2 receptor (AT2R) gene, which is located on the X-chromosome, often have a range of congenital anomalies of the kidney and urinary tract (CAKUT), including renal hypoplasia, and that Caucasian male patients with ureteropelvic junction stenosis (UPJ) and multicystic dysplastic kidneys frequently have A-G transition in intron 1 of the AT2R gene. We have previously found that renal hypoplasia is remarkably predominant in Japanese boys. Methods. We investigated sex ratios for the frequency of each CAKUT. The frequency of the A-G transition between the controls and 66 Japanese boys with CAKUT were compared. There was renal hypoplasia in 16, UPJ in 17, vesicoureteral in 20, and other anomalies in 13. We also investigated whether any mutations in AT2R genes were detectable in patients with renal hypoplasia. Results. In contrast to mice with a disruption of the AT2R gene, the male-to-female ratios in human patients proved to be considerably variable: 16 for renal hypoplasia, 2.1 for UPJ. 0.8 for vesicoureteral, and 1.2 for others. The frequency of the A-G transition was not different between the control population and the patients with CAKUT [31 of 102 (30%) vs. 23 of 66 (35%), respectively]. A sequencing study disclosed no mutations in nine boys with renal hypoplasia. Conclusions. These findings indicate that the AT2R gene may not play a major role in the development of renal hypoplasia and other CAKUT in humans, at least in the Japanese population.

Original languageEnglish
Pages (from-to)1244-1249
Number of pages6
JournalKidney International
Issue number4
Publication statusPublished - Apr 2001
Externally publishedYes


  • Angiotensin II
  • Gene mutation
  • Japanese population
  • Multicystic dysplastic kidney
  • Renal hypoplasia
  • Ureteropelvic junction stenosis

ASJC Scopus subject areas

  • Nephrology


Dive into the research topics of 'No evidence for AT2R gene derangement in human urinary tract anomalies'. Together they form a unique fingerprint.

Cite this