The genetic and epigenetic landscapes of the epithelium in asthma

Respiratory Research

Table 1 Asthma susceptibility genes identified by positional cloning and genome-wide association (GWAS) in airway epithelium

Positional cloning
Chromosome		Gene	Function	Reference
20p13		ADAM33	Airway remodelling and BHR	[17]
5q31-q33		PCDH1^a	Airway remodelling and BHR	[22–24]
2q14-32		DPP10	BHR	[27–29]
6p21		HLA-G	BHR	[30, 31]
7p15-p14		GPRA/NPSR1/GPR154	Cell homeostasis	[19–21]
5q31-35		SPINK5/LEKTI	Protective against allergen/inflammation	[25]
12q13-24		IRAKM^b	Inflammation	[26]
Genome-wide association (GWAS) and associated SNP
Chromosome	SNP	Gene	Function	References
2	rs3771166	IL1RL1 and IL18R1	Alarmin to alert the immune system after epithelial cell damage during trauma or infection	[45, 50]
6	re9273349	HLA-DQ	Recognition of non-self antigens	[13]
9	rs1342326	IL33+	Alarmin	[13, 50]
15	rs744910	SMAD3	TGF-β1 signaling and response to respiratory viral infection	[50, 57–59]
17	rs2305480	ORMDL3^b+ GSDMB^b+	BHR Epithelial cell homeostasis	[13, 64, 66–68]
5	rs1837253	TSLP+	Epithelial cell homeostasis and improving wound healing-Protective role against asthma	[42, 43, 71–74]

ISSN: 1465-993X