Developmental genetics of the COPD lung

Kelly Probert; Suzanne Miller; Abdul Kader Kheirallah; Ian P. Hall

doi:10.1186/s40749-015-0014-x

COPD Research and Practice

Table 1 FEV₁ associated SNPs identified using GWAS meta-analyses

From: Developmental genetics of the COPD lung

Gene	Locus	SNP	Measure	Reference
ST3GAL3	1p34.1	rs121374475	FEV₁ decline	Tang et al. 2014 [28]
NFIA	1p31.3	rs766488	FEV₁ decline	Tang et al. 2014 [28]
ESRRG/GPATCH2	1q41	rs17698444	FEV₁ decline	Tang et al. 2014 [28]
BAZ2B	2q24.2	rs12692550	FEV₁ decline and ^bRate of FEV₁ change	Tang et al. 2014 [28]
FOSL2/PLB1	2p23.2	rs10209501	^bRate of FEV₁ change	Tang et al. 2014 [28]
TNS1	2q35	rs2571445	FEV₁	Repapi et al. 2010 [19]
HDAC4	2q37.3	rs12477314	FEV₁	Soler-Artigas et al. 2011 [36]
MECOM	3q26.2	rs1344555	FEV₁	Soler-Artigas et al. 2011 [36]
FLJ25363/MIR4445	3q13.13	rs1729588	^bRate of FEV₁ change	Tang et al. 2014 [28]
GSTCD	4q24	rs10516526	FEV₁	Repapi et al. 2010 [19]
FLJ20184	4q24	46 SNPs across locus	FEV₁	Hancock et al. 2010 [20]
INTS12	4q24	46 SNPs across locus	FEV₁	Hancock et al. 2010 [20]
GSTCD	4q24	46 SNPs across locus	FEV₁	Hancock et al. 2010 [20]
NPNT	4q24	46 SNPs across locus	FEV₁	Hancock et al. 2010 [20]
HHIP	4q31	rs12604628	FEV₁	Repapi et al. 2010 [19]
PDE4D ^a	5q12	rs298028	FEV₁	Obeidat et al. 2011 [22]
HTR4	5q33	rs3995090	FEV₁	Repapi et al. 2010 [19]
ZKSCAN3	6p22.1	rs6903823	FEV₁	Soler-Artigas et al. 2011 [23]
MTHFD1L ^a	6q25.1	rs803450	FEV₁	Obeidat et al. 2011 [22]
NAT2 ^a	8p22	rs6988857	FEV₁	Obeidat et al. 2011 [22]
CDC123	10p13	rs7068966	FEV₁	Soler-Artigas et al. 2011 [23]
C10orf112/MALRD1	10p12.31	rs10764053	^bRate of FEV₁ change	Tang et al. 2014 [28]
C10orf11	10q22.3	rs11001819	FEV₁	Soler-Artigas et al. 2011 [23]
ME3	11q14.2	rs507211	^bRate of FEV₁ change	Tang et al. 2014 [28]
CNTN5 ^a	11q22 - q22.2	rs17133553	FEV₁	Obeidat et al. 2011 [22]
TRPV4 ^a	12q24.1	rs3742030	FEV₁	Obeidat et al. 2011 [22]
TMCO3	13q34	rs2260722	FEV₁ decline	Tang et al. 2014 [28]
SERPINA1 ^a	14q32.13	rs3748312	FEV₁	Obeidat et al. 2011 [22]
IL16/STARD5/TMC3 ^a	15q25.1	rs4077833	FEV₁ decline	Tang et al. 2014 [28]
SV2B	15q26.1	rs8027498	FEV₁ decline	Tang et al. 2014 [28]
MYH11	16p13.11	rs8051319	FEV₁ decline	Tang et al. 2014 [28]
CACNG4	17q24.2	rs740557	FEV₁ decline	Tang et al. 2014 [28]
KCNJ2/SOX9	17q24.3	rs11654749	FEV₁	Hancock et al. 2012 [24]
BCL2 ^a	18q21.3	rs2850760	FEV₁	Obeidat et al. 2011 [22]
MACROD2 ^a	20p12.1	rs204652	FEV₁	Obeidat et al. 2011 [22]

Top hits for FEV₁ association seen in 6 studies of genome-wide association study meta-analyses [19, 20, 22–24, 28]
^aTop hits that were outside the level of significance, ^bIn meta-analyses of 5 cohorts with over 3 measurements per participant

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