A functional SNP upstream of the ADRB2 gene is associated with COPD

Figures & data

Table 1 Demographic characteristics of the study subjects

	DNA sample		RNA sample
	Case	Control	Case	Control
Subjects (n)	200	222	18	24
Male (%)	81.5	72.1	83.0	46.0
Age (years)	69.9±9.8a	67.9±8.8b	60.1±7.1	51.1±7.5
Smoking (pack-years)	30.6±8.6	28.8±7.0	28.1±19.7	8.3±11.4
FEV1/FVC	49.0±16.1	86.0±6.1	64.5±5.2	85.5±6.2
FEV1 % predicted	54.0±17.5	95.0±8.7	60.1±5.7	83.8±11.4
FEV1 % >50% predicted	112	0	17	24
FEV1 % ≤50% predicted	88	0	1	0

Notes: Data are presented as mean ± SD.

a Data available for 155 patients;

b Data available for 150 subjects.

Abbreviations: FEV₁, forced expiratory volume in 1 second; FVC, forced vital capacity.

Figure 1 The average expression of ADRB2 in COPD patients and controls.

Notes: The data are presented as mean ± SD. **p<0.01.

Table 2 Genotypes distribution in patients with COPD (case) and healthy smokers (control)

SNP	Positiona	Amino substitution	Genotype frequency (%)		OR (95% CI)b	p-value
			Case	Control		Genotypeb	HWE*
rs1432623	−2,389	N/A				0.10	0.68
CC			0.13	0.08	1.00
CT			0.42	0.39	1.92 (0.86–4.27)
TT			0.46	0.53	3.62 (1.11–11.86)
rs17108803	−839	N/A				0.83	0.99
GG			0.00	0.00	1.00
GT			0.11	0.13	0.00 (0.00-)
TT			0.90	0.87	0.00 (0.00-)
rs12654778	−654	N/A				0.04	0.08
AA			0.12	0.16	1.00
AG			0.56	0.41	0.97 (0.36–2.61)
GG			0.33	0.43	2.40 (0.54–10.63)
rs1042713	+46	Arg16Gly				0.15	0.61
AA			0.23	0.28	1.00
GA			0.62	0.48	0.65 (0.30–1.42)
GG			0.16	0.24	1.17 (0.37–3.69)
rs1042714	+79	Gln27Glu				0.73	0.98
GG			0.02	0.01	1.00
GC			0.29	0.21	1.36 (0.27–6.98)
CC			0.69	0.78	1.68 (0.32–8.77)
rs1042717	+253	Leu84Leu				0.19	0.62
AA			0.10	0.14	1.00
AG			0.47	0.45	2.82 (0.91–8.77)
GG			0.44	0.41	3.82 (0.82–17.86)
rs1042719	+1,055	Gly351Gly				0.69	0.19
CC			0.18	0.25	1.00
CG			0.48	0.45	0.96 (0.45–2.06)
GG			0.35	0.30	1.29 (0.49–3.46)
rs1042720	+1,241	Leu413Leu				0.13	0.07
GG			0.22	0.15	1.00
GA			0.46	0.40	1.55 (0.76–3.19)
AA			0.33	0.45	2.15 (0.86–5.35)

Notes:

* p-value from test for HWE in controls.

a The position is based on the first nucleotide of the start codon being +1.

b The OR (95% CI) and genotype p-value have been adjusted for age, sex and smoking history.

Abbreviations: HWE, Hardy–Weinberg equilibrium; OR, odds ratio; SNP, single nucleotide polymorphism; CI, confidence interval.

Figure 2 Transient transfection of plasmid constructs with different rs12654778 alleles in Beas-2B cell line.

Note: **p<0.01.

Figure 3 Enrichment of the region spanning rs12654778 in anti-NF1 ChIP DNA relative to mouse IgG ChIP in Beas-2B cells.

Note: **p<0.01.
Abbreviations: ChIP, chromatin immunoprecipitation; NF1, neurofibromin 1.