Locus [ref] SNP Gene rs number Effect for increased expression or minor allele Minor allele Published MAFs in different ethnic groups according to 1000 Genomes Project [9]
CHB JPT CEU YRI
Chr 1 [13] NA CLCA1* NA Good ICS response NA NA NA NA NA
Chr 13 [13] NA Periostin* NA Good ICS response NA NA NA NA NA
Chr 18 [13] NA SerpinB2* NA Good ICS response NA NA NA NA NA
Chr6 [13] NA FKBP51* NA Poor ICS response NA NA NA NA NA
Chr 4[14] NA NFKB* NA Poor ICS response NA NA NA NA NA
Chr 7 [15] A-549G GLCCI1 37973 Increased ICS response G 0.464 0.421 0.482 0.159
Chr 6 [17] G+11024T T-gene 1134481 Decreased ICS response T 0.160 0.208 0.347 0.227
Chr 6 [27,32] A-2464G ARG1 2781659 Asthma susceptibility and increased BDR G 0.289 0.365 0.282 0.670
Chr 2 [34] C-20564T SPATS2L 295137 Increased β2-adrenoceptor levels and BDR A 0.191 0.225 0.429 0.574
Chr 8 [18] C+41740T COL22A1 6988229 IncreasedBDR T 0 0.011 0.247 0.608
Table 1: Summary of major findings from whole-genome pharmacogenomic studies for asthma
A, adenine; BDR, bronchodilator responsiveness; CEU, nnorthern and western European ancestry (CEU); CHB, Han Chinese in Beijing, China; Chr, chromosome; G, guanine; ICS, inhaled corticosteroid; JPT, Japanese in Tokyo, Japan; MAF, minor allele frequency; NA, not applicable; T, thymine; UTR, untranslated region; YRI, Yoruba in Ibadan, Nigeria.
*By whole-genome microarray;By genome-wide association study.