慢性阻塞性肺疾病全基因组关联研究进展
钱国清

Advances in genome-wide association study of chronic obstructive pulmonary disease
Qian Guoqing
表1 肺功能与COPD重叠致病基因
Table 1 Causal genes associated with lung functions and COPD
基因缩写 基因全称 位点
TRIP1 Eukaryotic translation initiation factor 3 subunit I 1p35.2
MFAP2 Microfibril associated protein 2 1p36.13
TNS1 Mensin 1 2q35
PID1 Phosphotyrosine interaction domain containing 1 2q36.3
HDAC4 Histone deacetylase 4 2q37.3
RARB Retinoic acid receptor beta 3p24.2
EEFSEC Eukaryotic elongation factor, selenocysteine-tRNA specific 3q21.3
FAM13A Family with sequence similarity 13 member A 4q22.1
NPNT Nephronectin 4q24
GSTCD Glutathione S-transferase C-terminal domain containing 4q24
TET2 Tet methylcytosine dioxygenase 2 4q24
HHIP Hedgehog interacting protein 4q31.21
HTR4 5-hydroxytryptamine receptor 4 5q32
ADAM19 ADAM Metallopeptidase Domain 19 5q33.3
NCR3 Natural cytotoxicity triggering receptor 3 6p21.33
AGER Advanced glycosylation end-product specific receptor 6p21.32
ARMC2 Armadillo repeat containing 2 6q21
ZKSCAN3 Zinc finger with KRAB and SCAN domains 3 6p22.1
GPR126 Adhesion G protein-coupled receptor G6 6q24.2
ASTN2 Astrotactin 2 9q33.1
CDC123 Cell division cycle 123 10p14-p13
C10orf11 Leucine rich melanocyte differentiation associated 10q22.2-q22.3
CCDC38 Coiled-coil domain containing 38 12q23.1
RIN3 Ras and Rab interactor 3 14q32.12
THSD4 Thrombospondin type 1 domain containing 4 15q23
CFDP1 Craniofacial development protein 1 16q23.1
KCNE2 Potassium voltage-gated channel subfamily E regulatory subunit 2 21q22.11
MN1 MN1 proto-oncogene, transcriptional regulator 22q12.1