Table 3.
Nucleotide position | Type | SNP access code | Disease association | Reference |
---|---|---|---|---|
g.-1220A/C c.-819 T > G c.2078 C > T c.2534A > G c.3105 A/G (Exon1-UTR) c.-2534A > G c.601 A/G |
Promotor Haplotype Haplotype Coding |
rs1323552 rs912278 rs41347648 |
Associated with asthma Aspirin intolerant asthma Stronger association with LTC4S c.-444A > C Not associated with atopic dermatitis Not associated 201Ser is associated with atopic asthma 201Ser is a hypomorphic variant; decreased Ca2+ flux Common allele associated with protection against atopy Associated with atopy; Hypomorphic 201Ser is hypomorphic Decreased LTD4 binding Decreased inositol phosphate production |
Fukai et al., 2004 Park et al., 2005 Kato et al., 2011 Kumar et al., 2012 Thompson et al., 2003 Thompson et al., 2006 Pillai et al., 2004 Brochu-Bourque et al., 2011 |
aa, amino acid; IC, intracellular loop; SNP, single nucleotide polymorphism; TM, transmebrane helix. Approximate allele frequency as reported by the Exome Aggregation Consortium (ExAC), Cambridge, MA, USA (http://exac.broadinstitute.org).