. 2007 Aug 16;176(9):849–857. doi: 10.1164/rccm.200704-592OC

TABLE 2.

PEER-REVIEWED PUBLISHED REPLICATION STUDIES FOR POSITIONALLY CLONED ASTHMA SUSCEPTIBILITY GENES IN THE ENGLISH LANGUAGE LITERATURE

Study: First Author (Ref.)				No. SNPs Typed	Associations with Asthma^*		Additional Phenotypes	Association Results	Level of Replication
Study: First Author (Ref.)	Population	Sample Size	Design	No. SNPs Typed	Single Marker	Haplotype	Additional Phenotypes	Association Results	Phenotype	Marker
ADAM33
Lind (47)	Puerto Rican	318 trios	FBTA	6	NS	NS	IgE	NS	No	No
	Mexican	265 trios	FBTA	6	NS	NS	IgE	NS	No	No
Howard (48)	Dutch	153 cases, 124 controls	CC	8	ST+7, V4	Yes	IgE	NS	Yes	Yes
	African American	160 cases, 256 controls	CC	8	S2	Yes	IgE	NS	Yes	No
	US white	219 cases, 225 controls	CC	8	ST+7, T1, T2	Yes	IgE	NS	Yes	Yes
	US Hispanic	112 cases, 126 controls	CC	8	S2, T2	NS	IgE	NS	Yes	No
Werner (30)	German white	171 families, 732 subjects	FBTA	15	F+1, ST+4, ST+5	Yes	IgE	F+1, ST+5	Yes	Yes
							AHR	F+1, S2
	German white	48 cases, 499 controls	CC	15	ST+7	Yes	IgE	ST+7	Yes	Yes
							AHR	ST+5
Lee (31)	Korean	326 cases, 151 controls	CC	5	NS	NS	AHR	T1	No	No
Raby (22)	US white	474 families	FBTA	17	NS	NS	IgE, AHR	NS	No	No
	African American	66 families	FBTA	17	NS	NS	IgE, AHR	NS	No	No
	US Hispanic	47 families	FBTA	17	T1, T+1	Yes	IgE	T1, T+1	Yes	No
							AHR	NS
Blakey (49)	Iceland	348 cases, 262 controls	CC	13	NS	NR			No	No
	UK	60 families, 240 subjects	FBTA	13	NS	NR			No	No
Simpson (50)	UK	470 children	Cohort	17	NS	NS	FEV₁	F+1, M+1, T1, T2	No	No
Kedda (51)	Australian white	612 cases, 473 controls	CC	10	NS	Yes			No	No
Schedel (52)	German white	624 cases, 1,248 controls	CC	10	NS	Yes	AHR	NS	No	No
	German white	824 children	Cohort	10	NS	NS	AHR	NS	No	No
Hirota (53)	Japanese	504 cases, 651 controls	CC	14	S2, T1, T2, V-3	Yes	IgE	NS	Yes	No
Wang (54)	Chinese	296 cases, 270 controls	CC	3	NS	NS			No	No
Noguchi (55)	Japanese	155 families, 538 subjects	FBTA	23	S+1, ST+4, T2	NS	IgE	NS	Yes	Yes
GPR154
Shin (56)	Korean	439 cases, 374 controls	CC	1	NS	—	IgE, AHR	NS	No	No
Melen (57)	Western European	265 cases, 2,848 controls	CC^†	7	NR	H5	Allergic sensitization	H5, H6	Yes	Yes
	Swedish	176 cases, 624 controls	CC	7	NR	NS	Allergic sensitization	NS	No	No
Kormann (32)	German white	351 cases, 1,769 controls	CC	6	546333, 585883	H4			Yes	Yes
							AHR	NS
	German white	112 cases, 1,737 controls	CC	6			IgE	546333, 585883
Feng (33)	Chinese	451 cases, 232 controls	CC	7	NR	NS	AHR	rs324981, rs324987	No	No
	Chinese	264 cases, 241 controls	CC	1			AHR	NS
Malerba (58)	Italian	211 families, 927 subjects	FBTA	7	NS	H5, H6	IgE	546333, 585883, H4	Yes	Yes

Included here are all published studies in the English literature that test for genetic association with asthma or a related phenotype and include at least one population with a minimum of 100 cases and 100 controls or 100 families. Studies that do not include reports of association testing with asthma are not included. An association is claimed if reported with a p value less than 0.05 in the primary report. Marker replication is claimed only if the marker associated in the replication study is that reported in the initial study. Combination phenotypes (i.e., asthma + AHR) are not considered. For ADAM33, the six markers associated with asthma in the combined population in reference (8) were Q-1, S1, ST+4, ST+7, V-1, and V4. For GPR154, the primary replication is for haplotypes H2, H4, H5, and H7, and for SNP522363, which differentiates these risk haplotypes from three nonrisk haplotypes (H1, H3, and H6).

SNPs associated with asthma are listed.

^†

Population-based case–control study.