Ueki Misuzu, Takeshita Haruo, Fujihara Junko, Kimura-Kataoka Kaori, Iida Reiko, Yasuda Toshihiro
Department of Medical Genetics and Biochemistry, School of Medical Sciences, University of Fukui, Fukui 910-1193, Japan.
Department of Legal Medicine, Shimane University School of Medicine, Shimane 693-8501, Japan.
Leg Med (Tokyo). 2019 Mar;37:83-85. doi: 10.1016/j.legalmed.2019.02.003. Epub 2019 Feb 11.
Recently it has been recognized that a considerable number of copy number variations (CNVs) are associated with diseases and other complex human traits. In our previous study, we developed a simple quantitative real-time PCR (Q-PCR) method for analysis of CNV copy number, which had the advantage of obviating the need for reference DNA with a known copy number. Using DNA samples obtained from 231 Japanese individuals, we applied this method for analyzing the copy number of a candidate CNV associated with body height, located in the neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase (NEDD4L) gene. In addition, the appropriateness of the results was evaluated and confirmed by quantification of amplicons with an Agilent 2100 Bioanalyzer. The NEDD4L gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. The target CNV located in the intron has been found to be significantly associated with height variation in Chinese. However, it remains unknown whether such an association exists in other populations, including Japanese. Analysis of the correlations between copy number and body height using ANOVA revealed no statistically significant correlations in Japanese.
