The spirometric measurement of pulmonary function by measuring the forced expiratory volume in one second (FEV1) is a heritable trait that reflects the physiological condition of the lung and airways. Genome-wide linkage and association studies have identified a number of genes and genetic loci associated with pulmonary function. However, limited numbers of studies have been reported for Asian populations. In this study, we aimed to investigate genetic evidence of pulmonary function in a population in northeast Asia. We conducted a family-based association test with 706 GENDISCAN study participants from 72 Mongolian families to determine candidate genetic determinants of pulmonary function. For the replication, we chose seven candidate single nucleotide polymorphisms (SNPs) from the 5 loci, and tested 1062 SNPs for association with FEV1 from 2,729 subjects of the Korea Healthy Twin study. We identified TMEM132C as a potential candidate gene at 12q24.3, which is a previously reported locus of asthma and spirometric indices. We also found two adjacent candidate genes (UNC93A and TTLL2) in the 6q27 region, which has been previously identified as a pulmonary function locus in the Framingham cohort study. Our findings suggest that novel candidate genes (TMEM132C, UNC93A and TTLL2) in two different regions are associated with pulmonary function in a population in northeast Asia.
Several studies have reported a association between QTc interval prolongation and increased risk of sudden and non‐sudden cardiovascular mortality in both patients with cardiovascular disease and healthy individuals. QTc interval is a complex trait. Genes found for the long QT syndrome are unlikely to explain fully the QTc interval variation in the general population. And whole genome analysis about QTc interval variation is rare. We started a family study in Mongolia. In 2004, we visited a rural community in Selenge province, Mongolia, and gathered 1080 individuals from 142 families from there. In multivariable analysis, age, sex, heart rate, QRS duration and systolic BP showed association with QTc interval variation. We confirmed familial effect on QTc interval variation by familial correlation study and heritability was 0.32. And whole genome linkage analysis was carried out. In this anaysis, we found four peak determining QTc interval (maximum LOD score >1.5). Those regions were 7q21–36, 5q14–21, 4q22–31 and 2q13–14.
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