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Table 1 Key SNPs identified in asthma GWAS included in the current analyses

From: Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children

Gene SNP

Key SNP

Non-coded

Coded

Location

MAF*

P-value

Phenotype/Reference

MAF in UK families

Allele

Allele

 

(Control/case)

   

GSDMB

rs2305480

C

T

Ser311Pro

0.45

6E-23

Asthma (childhood) [2, 6]

0.43

GSDMB

rs11078927

C

T

intron

0.45/0.40

7.4E-07

Asthma [2, 6]

0.43

IL33

rs1342326

T

G

5′ region

0.16

9E-10

Asthma [6]

0.17

IL33

rs3939286

G

A

5′ region

0.25/0.28

5.3E-06

Asthma [3]

0.27

IL18R1

rs3771166

C

T

intron

0.38

3E-09

Asthma [6]

0.38

IL1RL1

rs1420101

G

A

intron

0.37/0.40

5.5E-12

Asthma [3]

0.38

SMAD3

rs744910

A

G

intron

0.49

4E-09

Asthma [6]

0.48

IL2RB

rs2284033

A

G

intron

0.44

1.1E-08

Asthma [6]

0.43

PDE4D

rs1588265

A

G

intron

0.34/0.23

4.3E-07

Asthma [4]

0.29

CRB1

rs2786098

C

A

intron

0.15

9.3E-11

Asthma [7]

0.22

RAD50

rs2244012

T

C

intron

0.21

3.05E-07

Asthma [5]

0.18

  1. Previous GWAS associations include; a chromosome 17 locus (orm1-like protein3 (ORMDL3)/gasdermin B (GSDMB)), interleukin 33 (IL33), a chromosome 2 locus (interleukin 18 receptor (IL18R)/interleukin 1 receptor like 1 (IL1RL1)), mothers against decaptentaplegic drosophila homolog 3 (SMAD3), and IL2 receptor beta (IL2RB), phosphodiestase 4D, cAMP specific (PDE4D), a chromosome 1 locus (Crumbs homolog 1 precursor (CRB1)) and RAD50, S. Cerevisiae, homolog of (RAD50). MAF minor allele frequency, *a single MAF is shown where the original paper only reported the MAF in all subjects. The p-value stated is for asthma association in the original study (referenced).