investigation of the new gene causing congenital anomalies of kidney and urinary tract

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K16700
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56030:Urology-related
• Research Institution: Saga University
• Principal Investigator: Ohtsuka Yasufumi 佐賀大学, 医学部, 講師 (50448479)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: CAKUT先天性腎尿路異常 / エクソーム解析 / ジェノタイピング / パラメトリック連鎖解析

Outline of Final Research Achievements

Congenital anomaly of kidney and urinary tract (CAKUT) accounts for 60% of chronic kidney disease in children. About 20 genomes are known to cause CAKUT, but they occur in less than 10% of patients, and 90% of them have an unknown cause. We explore new gene abnormalities in Japanese by a parametric linkage analysis with exome analysis and genotyping analysis in two Japanese families with many severe CAKUTs.
As a result, there were no pathological mutations in the exome analysis. The parametric analysis was performed on the two families based on the inheritance pattern (dominant model, additive model, recessive model), but no clear cause could be found. It is considered to be a disease that should be examined in consideration of abnormalities in the epigenetic mechanism.

Free Research Field

小児腎泌尿器

Academic Significance and Societal Importance of the Research Achievements

先天性腎尿路異常CAKUTは小児慢性腎臓病の6割を占める。CAKUTの原因として約20の遺伝子異常が知られているが、患者の10％未満にしかみられるず、90％は原因が不明である。CAKUTは出生500人に1人みられる頻度の多い病態のため、その原因探索は重要である。今回、CAKUTを多く認める2家系を対象に、現在可能な網羅的遺伝子解析と、新規遺伝子推定を行ったが、明らかな異常は見いだせなかった。本病態が遺伝子異常ではない可能性もあり、今後さらなる研究が望まれる。