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Updated: Apr 13, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Validation study of candidate single nucleotide polymorphisms associated with left ventricular hypertrophy in the
Jin-Kyu Park1, Mi Kyung Kim2, Bo Youl Choi3
1Division of Cardiology, Department of Internal Medicine, Hanyang University College of Medicine, Seoul, South Korea. cardiohy@gmail.com.
Background:
Left ventricular hypertrophy (LVH) is a valid predictor for cardiovascular mortality and morbidity regardless of age, gender, and race. The HyperGEN study conducted a genome-wide association study and identified twelve single nucleotide polymorphisms (SNPs) associated with LVH. The aim of this study was to validate these candidate SNPs in the Korean population.
Methods:
Among 1637 individuals from the Korean Multi-Rural Communities Cohort Study (MRCohort) of the Korean Genome Epidemiology Study (KoGES), we carried out a linear regression analysis with left ventricular mass index (LVMI) and a logistic regression analysis for LVH status.
Results:
The rs4129218 on chromosome 12 tended to be associated with LVM/body surface area (adjusted β = -0.023; p = 0.036) and LVM/height(2.7) (adjusted β = -0.027; p = 0.016), and was marginally protective against LVH after adjustment for age, sex, body mass index, serum creatinine, systolic blood pressure, heart rate and antihypertensive medication (adjusted odds ratio = 0.766 and 0.731; p = 0.027 and 0.007 according to indexation by BSA and height(2.7), respectively).
Conclusions:
In the Korean population, the minor allele of rs4129218 had borderline association with lower LVM. This study suggests that rs4129218 on chromosome 12 showed consistent tendency of possibly related loci for LVH independent of ethnic background.
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