Family-Based Association Study of Pulmonary Function in a Population in Northeast Asia

PLoS One. 2015 Oct 2;10(10):e0139716. doi: 10.1371/journal.pone.0139716. eCollection 2015.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asia
  • Female
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Respiratory Function Tests*
  • Young Adult

Grants and funding

This work was supported by the Korean Ministry of Education, Science and Technology (Grant No. 2003-2001558) JIK JSS. This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government(MSIP) (No. 2012R1A5A2A44671346). This work was supported by Research Settlement Fund for the new faculty of SNU.