title: Family-Based Association Study of Pulmonary Function in a Population in Northeast Asia.
abstract: 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors.forename: Ho-Young
authors.initials: HY
authors.lastname: Son
authors.affiliation: Department of Internal Medicine, Dongguk University Ilsan Hospital, Goyang, Republic of Korea.
authors.forename: Seong-Wook
authors.initials: SW
authors.lastname: Sohn
authors.affiliation: Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Obstetrics and Gynecology, College of Medicine, Chung-Ang University, Seoul, Republic of Korea.
authors.forename: Sun-Hwa
authors.initials: SH
authors.lastname: Im
authors.affiliation: Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Republic of Korea.
authors.forename: Hyun-Jin
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Epidemiology and Institute of Environment and Health, School of Public Health, Seoul National University, Seoul, Republic of Korea.
authors.forename: Mi Kyeong
authors.initials: MK
authors.lastname: Lee
authors.affiliation: Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Republic of Korea; Department of Epidemiology and Institute of Environment and Health, School of Public Health, Seoul National University, Seoul, Republic of Korea.
authors.forename: Bayasgalan
authors.initials: B
authors.lastname: Gombojav
authors.affiliation: Department of Internal Medicine, Asan Medical Center, Seoul, Republic of Korea.
authors.forename: Hyouk-Soo
authors.initials: HS
authors.lastname: Kwon
authors.affiliation: Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts, United States of America.
authors.forename: Daniel S
authors.initials: DS
authors.lastname: Park
authors.affiliation: Department of Biochemistry, Ewha Womans University, School of Medicine, Seoul, Republic of Korea.
authors.forename: Hyung-Lae
authors.initials: HL
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors.forename: Kyung-Up
authors.initials: KU
authors.lastname: Min
authors.affiliation: Department of Epidemiology and Institute of Environment and Health, School of Public Health, Seoul National University, Seoul, Republic of Korea.
authors.forename: Joohon
authors.initials: J
authors.lastname: Sung
authors.affiliation: Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Republic of Korea; Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Republic of Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Republic of Korea.
authors.forename: Jeong-Sun
authors.initials: JS
authors.lastname: Seo
authors.affiliation: Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Republic of Korea; Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Republic of Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Republic of Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors.forename: Jong-Il
authors.initials: JI
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D001208:Asia; D005260:Female; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012129:Respiratory Function Tests; D055815:Young Adult