From SNPedia
| ? | (G;G) (G;T) (T;T) | 28 |
|---|
 |
A form of this snp, located upstream of the
XPNPEP2 gene on the X chromosome, may cause susceptibility to
skin swelling when taking medicines called
ACE Inhibitors. [
PMID 16175507]
Also known as -2399C/A in the literature; however in SNPedia, where the orientation of the corresponding dbSNP entry is recognized as primary, this is G/T.
After noticing the association of this SNP with the phenotype, the authors genotyped 20 independent AE-ACEi cases and 60 unrelated, matching controls for this SNP. The T allele was present in 8 of the 20 AE patients; and by allele counting, the T allele was found at a frequency of 11.1% in the control population and 27.3% in their AE-ACEi cases.
