Genetic epidemiology in the ion channel disease

2016 Fiscal Year Final Research Report

• Project/Area Number: 25460406
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Shiga University of Medical Science
• Principal Investigator: Itoh Hideki 滋賀医科大学, 医学部, 講師 (30402738)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: QT延長症候群 / 遺伝子 / KCNQ1

Outline of Final Research Achievements

We studied 3782 genotyped members from 679 European and Japanese LQTS families (2748 carriers). LQTS alleles were more of maternal than paternal origin (61 vs 39%, P<0.001). For LQT1, maternal transmission differs according to the variant level of dysfunction with 68% of maternal transmission for dominant negative or unknown functional consequence variants vs 58% for non-dominant negative and variants leading to haploinsuficiency, P<0.01. An excess of disease-causing alleles of maternal origin, most pronounced in LQT1, was consistently found across ethnic groups. This observation does not seem to be linked to an imbalance in transmission of the LQTS subtype-specic grandparental allele, but to the potential degree of potassium channel dysfunction.

Free Research Field

循環器内科