Interactions between genes and environmental factors in asthma and atopy: new developments

Sengler, Claudia; Lau, Susanne; Wahn, Ulrich; Nickel, Renate

doi:10.1186/rr179

Respiratory Research

Supplementary Table 3 Polymorphisms/mutations in candidate genes for asthma and related phenotypes

From: Interactions between genes and environmental factors in asthma and atopy: new developments

Chromosomal				Single nucleotide	Phenotype		Functional
location	Number^*	Molecule		polymorphism/mutation^†	related	Population	(in vitro)	Reference
1p32	1	Histamine-N-		C314T (Thr105Ile)	Asthma	Caucasian	Yes	[28]
		methyl-transferase
2q33-34	2	CD28		T19int3C	None	Caucasian		[S33]
		CTLA-4		A49G	None	Caucasian		[S33]
				C-318T	None	Caucasian
3p21	3	CCR5		CC5-Δ32	Asthma	Caucasian	Yes	[40]
					No Association	British/Australian		[41]
5q31-34	4	IL-4		C-590T	Total IgE	Japanese	Yes	[S34]
				(= C-589T)	Total IgE	American		[S35]
					Specific IgE, wheeze	Australian		[S36]
					FEV1	Caucasian		[S37]
					Atopic dermatitis	Japanese		[S38]
					None	Caucasian		[S39]
				C+33T	Total IgE	Japanese		[S40]
	5	IL-5		None		Australian		[S41]
	6	IL-13		C-1055T	Allergic asthma	Dutch		[S42]
			identical
				C-1112T	Total IgE	American/German		[19]
				A-1512C
				C1923T
				G2525A
				C2580A
				C2749T
				Arg130Gln
			identical	G4257A	High IgE, atopic dermatitis	German		[S43]
				Gln110Arg	Atopic and intrinsic	British/Japanese		[S44]
					asthma
	7	β₂-AR		G-1023A
				C-709A
				G-654A
				C-468G
				C-406T
				T-367C	Drug response	Caucasian/African American	Yes	[24]
				T-47C	(Haplotype studies)	Asian/Hispanic-Latino
				T-20C
				G46A (= Gly16Arg)
				C79G (= Gln27Glu)
				G252A
				C491T (= Thr164Ile)
				C523A
				Gly16Arg	Drug response	American	Yes	[27]
					FEV1 and FVC	Hutterites		[S45]
					Asthma severity	Not specified		[S46]
				Gly16Arg	Nocturnal asthma	American		[25]
					Steroid-dependent asthma	American		[S47]
					None	German		[S48]
					Drug response	Not specified		[S49]
				Gln27Glu	Drug response	American	Yes	[27]
					Drug response	Not specified		[S49]
					None	German		[S48]
					Total IgE	Caucasian		[S50]
					FEV1	British		[S51]
	8	IRF-1		-300 G/T	None	Japanese		[S52]
				4396 A/G	None
				6355 G/A	None
	9	CD14		-159 C → T	Total IgE	Caucasian		[S53]
					None	Hispanic		[S53]
					Total IgE	British		[S54]
					None	Japanese		[S54]
5q35	10	LTC4 synthase		-444 C	Aspirin-induced asthma	Caucasian	Yes	[30]
					None	American	No	[S55]
6p21	11	HLA-II			Specific IgE	Multiple		[S56]
		TNF		-308 TNF2	BHR	Caucasian		[S57]
		LT-α		LT alpha NcoI^*1/	Asthma	British		[S58]
				TNF-308^*2 haplotype
				-308 TNF1	Asthma	Australian		[S59]
				LT-alpha^*2	Asthma
6p21-12	24	PAF-acetyl-hydrolase		Ile198Thr	Atopic Asthma/	German/British	Yes	[S60]
					total IgE
				Ala379Val	Asthma/specific IgE		Yes
				Arg92His	None		Yes
10	12	5-LO (promoter)		(GGGCGG)_{n = 3–6}	Drug Response	Not specified	Yes	[29]
11q12-13	14	CC16		A38G	Asthma	Australian		[S61]
					None	British/Japanese		[S62]
	15	FcεR1-β		lle181Leu	Atopy	British	No	[S63]
						Japanese		[S64]
				Leu181/Leu183	Atopy, BHR	British/Australian	No	[S65]
					None	Australian		[S51]
				E237G (= Gly237Glu)	Atopy	Australian	No	[S66]
					None	Japanese		[S67]
				RsaI_in2^*B	Asthma	Australian		[S68]
				RsaI_ex7 (+ RsaI_in2^*B)	Total IgE, atopic	Not specified		[S69]
					dermatitis, asthma
				-109C/T	Total IgE	Japanese		[S70]
	13	GSTP1		Ile105Val	IgE/Skin Test/FEV1	Caucasian		[S71]
12q13	17	STAT6		G2964A	Asthma	Japanese		[S72]
12q14	16	IFN-γ		None		Australian/Venezuelan		[S73]
12q24	18	NO-synthase 1		(AAT)_{n ≥ 12}	Exhaled NO	Mixed		[S74]
14p11	19	TCR		VA8.1(^*)2	Specific IgE	Caucasian		[S75]
	20	Mast cell chymase		MCC BstXI	Eczema	Japanese		[S76]
					Total IgE	Not specified		[S77]
					None	Japanese		[S78]
					None	Italian		[S79]
					Atopic dermatitis	Japanese		[S80]
					With high IgE
16p12-p11	21	IL-4Rα		Q576R (= Arg551Gln)	Atopy, high IgE	American	Yes	[S81]
					Asthma severity (FEV1)	American		[S82]
					None	Italian		[S83]
					Atopic dermatitis	Japanese		[S84]
					Low IgE	German	Yes	[20]
				S503P (= 478Pro)	Low IgE			[20]
				E400A	None
				C431R	None
				Ile50Val	IgE/atopic asthma	Japanese	Yes	[S85]
					None	Japanese		[S86]
				Ile50Val
				Ser727Ala
				Glu375Ala
				Cys406Arg	Atopy/asthma	Hutterites/Caucasian		[21]
				Ser411Leu	(Haplotype studies)	African American/Hispanic
				Ser761Pro
				Ser478Pro
				Gln551Arg
17q11-q12	22	RANTES		G-401A	Atopic dermatitis	Caucasian	Yes	[43]
			identical
				G-403A	Asthma, atopy	Caucasian		[44]
Xq	23	IL-13Rα1		A1398G	Total IgE	British		[S44]

Divergent positions of identical mutations are due to different database accession numbers used for reference. ^* Numbers refer to molecules in Supplementary Figure 1. ^† Nomenclature as in references. β₂-AR, β₂ adrenergic receptor; BHR, bronchial hyperresponsiveness; CC16, Clara cell protein 16; CCR5, CC chemokine receptor 5; CD, cluster of differentiation; FcεR1-β, Fc epsilon receptor 1 beta (IgE receptor); FVC, forced vital capacity; FEV1, forced expiratory volume in 1 s; GSTP1, glutathione-S-transferase 1; HLA, human leukocyte antigen; IFN, interferon; IL, interleukin; IL-4/13 R, interleukin 4/13 receptor; IRF-1, interferon regulatory factor 1; 5-LO, 5-lipoxygenase; LT, leukotriene; LT-α, lymphotoxin α; LTC4, leukotriene C4 synthase; NO, nitric oxide; PAF, platelet activating factor; RANTES, regulated on activation, normal T cell expressed and secreted; STAT6, signal transducer and activator of transcription 6; TCR, T-cell receptor; TNF, tumor necrosis factor.

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