Establishment of a simple screening method for citrin deficiency and exploration on food preferences

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K15217
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Epidemiology and preventive medicine
• Research Institution: Tohoku University
• Principal Investigator: Kuriyama Shinichi 東北大学, 災害科学国際研究所, 教授 (90361071)
• Co-Investigator(Kenkyū-buntansha): 呉 繁夫 東北大学, 医学系研究科, 教授 (10205221)
• Co-Investigator(Renkei-kenkyūsha): KIKUYA Masahiro 東北大学, 東北メディカル・メガバンク機構, 准教授 (80361111) ; ISHIKURO Mami 東北大学, 東北メディカル・メガバンク機構, 助教 (10632242) ; KIKUCHI Atsuo 東北大学, 大学病院, 助教 (30447156) ; MIYASHITA Masako 東北大学, 東北メディカル・メガバンク機構, 助手 (70765429)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: シトリン欠損症 / スクリーニング / 分子遺伝疫学 / 小児期 / SLC25A13 / 食嗜好

Outline of Final Research Achievements

To detect citrin deficiency during the asymptomatic period, we distributed a parent-administered questionnaire, which focused on specific food preferences of disliking sweets and preferring high protein and high fat foods, to 62,895 children in elementary and junior high school.
We obtained 16,468 responses, and 84 children had these specific food preferences. After excluding children whose parents did not want a telephone contact and those without available contact details, we asked the parents of 32 children if they would allow their child to undergo a genetic test of the SLC25A13 gene. DNA extracted from the collected saliva of these 13 children was examined for 6 prevalent mutations in the SLC25A13 gene. Although two of these 13 children were heterozygous carriers, one child with c.851_854delGTAT and one with c.1177+1G>A, no homozygous carrier was detected. This result suggested that heterozygotes might have specific food preferences similar to citrin deficiency.

Free Research Field

分子遺伝疫学