한국인에서의 단일 염기 다형성과 좌심실 구조 및 비대의 상관관계

Abstract

Objectives: The aim of the study was to identify single nucleotide polymorphisms (SNPs) that are associated with left ventricular (LV) geometry and hypertrophy in a Korean ethnicity. Methods: We selected candidate SNPs identified by two genome-wide association studies: Framingham Heart and HyperGEN studies. For 1659 subjects (682 males, 977 females) from the population cohort in Yang-pyeong, South Korea, we obtained echocardiographic data and performed assays for 29 candidate SNPs associated with diastolic LV internal dimension (LVID), LV wall thickness, LV mass (LVM) and LV hypertrophy (LVH). Results: Age, body mass index and systolic blood pressure were 61.1 ± 10.4 years, 24.7 ± 3.3 kg/m2, and 124.3 ± 17.8 mmHg, respectively. Hypertension was present in 44.1%, and an antihypertensive drug was taken in 29.3 % of the subjects. The prevalence of LVH was 12.8% and 21.3% using indexed LVM (LVMI) by body surface area (LVM/BSA) and height2.7 (LVM/height2.7), respectively. Rs580859 on chromosome 13 was significantly associated with LVID (p=0.039). Rs4129218 on chromosome 12 had a negative correlation with log (LVMI) (LVM/BSA: adjusted β=-0.02131, p=0.01987; LVM/height2.7: adjusted β=-0.02463, p=0.008428) and was significantly protective for LVH defined by LVM/height2.7 (adjusted odds ratio=0.7746 CI 0.6171-0.9727, p=0.02789). Conclusions: This study suggests that 1 SNP (rs580859) from the Framingham Heart study and 1 SNP (rs4129218) from the HyperGEN study showed conservation of susceptible loci for LVID and LVH independent of ethnic background.