Identification of genetic determinants of LV mass in a healthy Japanese population by a GWAS

2015 Fiscal Year Final Research Report

• Project/Area Number: 26670409
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Cardiovascular medicine
• Research Institution: Keio University
• Principal Investigator: Sano Motoaki 慶應義塾大学, 医学部, 准教授 (30265798)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 左室肥大 / GWAS / TBX3 / JPDSC / 心電図

Outline of Final Research Achievements

We have searched for genetic determinants of left ventricular (LV) mass using values for absolute electrocardiographic QRS voltage in a healthy Japanese population. After adjusting for covariates, the corrected S and R wave voltages in leads V1 and V5 from 2,994 healthy volunteers in the Japan Pharmacogenomics Data Science Consortium (JPDSC) database were subjected to a genome-wide association study. Potential associations were validated by an in silico replication study using an independent Japanese population obtained from the Nagahama Prospective Genome Cohort. We identified a novel association between the lead V5, R wave voltage in Japanese individuals and SNP rs7301743[G], which maps near the gene encoding T-box transcription factor Tbx3. Meta-analysis of two independent Japanese datasets demonstrated a marginally significant association of SNP rs7301743 with a 0.071 mV (95% CI, 0.038 - 0.11 mV) shorter R wave amplitude in the V5 lead per minor allele copy (P = 7.635 x 10-8).

Free Research Field

循環器内科　（心臓）