Variants in FAM13A are associated with chronic obstructive pulmonary disease

Abstract

Substantial evidence suggests that there is genetic susceptibility to chronic obstructive pulmonary disease (COPD). To identify common genetic risk variants, we performed a genome-wide association study in 2940 cases and 1380 smoking controls with normal lung function. We demonstrate a novel susceptibility locus at 4q22.1 in FAM13A (rs7671167, OR=0.76, P=8.6×10−8) and provide evidence of replication in one case-control and two family-based cohorts (for all studies, combined P=1.2×10−11).

A Genome-Wide Association Study In COPD Identifies A Susceptibility Locus On Chromosome 19q13

“…However, the results of many small candidate gene studies have been inconsistent (9,10). Genomewide association studies (GWASs) of COPD (11)(12)(13) have, to date, identified three susceptibility loci that have been well replicated (14)(15)(16)(17)(18)(19)(20)(21). We report the results of a follow-up GWAS in four cohorts that identifiy a new COPD susceptibility locus.…”

“…Details of the ICGN cohort used for replication have been previously described (13,58). Association analysis in ICGN was performed using PBAT 3.61 (76) using one-sided P-values for the same risk allele, adjusting for age and pack-years of smoking in the COPD affection status analysis, and age, pack-years, sex and height in the analysis of FEV 1 .…”

Transient early wheeze and lung function in early childhood associated with chronic obstructive pulmonary disease genes

“…[20][21][22][23][24][25][26][27][28][29][30] Genotyping methods and patterns of linkage disequilibrium (Table E1) within loci are described in the Methods section in this article's Online Repository. We have selected proxy-SNPs for unavailable SNPs in ALSPAC by using HapMap release 22 31 : rs975278 in SERPINE2 for rs729631 (r 2 5 1) and rs6734100 (r 2 5 0.82), rs17368659 in MMP12 for rs2276109 (r 2 5 1), and rs8109167 in TGFB1 for rs6957 (r 2 5 1).…”

Association of cigarette smoking and CRP levels with DNA methylation in α-1 antitrypsin deficiency

“…1 Subsequent studies, including whole genome association studies, identified additional, yet more common, genetic variants associated with risk to develop COPD [2][3][4] and smoking behaviors. [5][6][7] Since tobacco smoking associates with severe airflow limitation in alpha-1 antitrypsin (aaT) deficiency and tobacco smoking are confirmed risk factors for chronic obstructive pulmonary disease.…”