Leukotriene B4 receptor locus gene characterisation and association studies in asthma

BMC Medical Genetics

Table 1 SNPs identified from polymorphism screening in asthmatic subjects.

SNP	Alleles (major/minor)	Location	Gene location (amino acid)	Individuals sequenced (n)	Minor allele frequency
rs2332320	T/C	−8639	LTB4R2 5′UTR	43	C=0.128
rs1053648	C/T	−8513	LTB4R2 5′UTR	43	T=0.035
rs1053649	A/C	−8456	LTB4R2 5′UTR	43	C=0.035
rs11158634	C/G	−8401	LTB4R2 5′UTR	43	G=0.244
rs11158635	G/T	−8088	LTB4R2 5′UTR	43	T=0.244
Novel 1	C/G	−7686	LTB4R2 5′UTR	35	G=0.014
rs2144492	C/A	−7446	LTB4R2 5′UTR	35	A=0.043
rs2180197	G/C	−7266	LTB4R2 5′UTR	35	C=0.043
rs45512098	C/G	−6743	LTB4R2 5′UTR	41	G=0.024
rs2516564	C/T	−6215	LTB4R2 5′UTR	41	T=0.22
rs2748543	C/A	−6184	LTB4R2 5′UTR	42	A= 0.27
Novel 2	G/A	−5918	LTB4R2 5′UTR	42	A=0.012
Novel 3	C/G	−5866	LTB4R2 5′UTR	42	G=0.012
Novel 4	G/C	−5737	LTB4R2 5′UTR	42	C=0.012
rs2224122	G/C	−1444	LTB4R1 5′UTR	43	C=0.163
rs374510	G/C	−1177	LTB4R1 5′UTR	44	C=0.011
rs3742511	T/C	+53	LTB4R1 ORF (S/S)	39	C=0.026
rs1046584	C/T	+926	LTB4R1 ORF (G/G)	39	T=0.28
rs1046587	G/A	+1202	LTB4R1 3′UTR	41	A=0.48
rs4981503	G/T	+1435	LTB4R1 3′UTR	41	T=0.11
rs3181384	C/T	+2118	LTB4R1 3′UTR	42	T=0.286
rs111415008	A/C	+2555	LTB4R1 3′UTR	41	C=0.012

The LTB4R locus was sequenced in 35 asthmatic subjects. 22 SNPs were validated, of which four were novel. Those SNPs with rs numbers correspond to those reported in the 1000genomes project and dbSNP (NCBI build 37).

ISSN: 1471-2350