Author + information
- Zhang Enhao and
- Lan Huang
Cumulative evidence indicates that angiotensin-converting enzyme (ACE) plays diverse roles in the pathogenesis of acute mountain sickness (AMS). Previous studies investigating the association between ACE insertion/deletion (I/D) polymorphism and the risk of AMS have generated controversial results. Furthermore, ACE I/D polymorphism was not the only functional variant of the gene. Our aim was to assess the association between single nucleotide polymorphism (SNP) of the ACE gene and AMS in Chinese Han population
A case-control study was carried out including 190 AMS cases and 190 controls. Three tag SNP (rs4353, rs4461142, and rs8066114) were nominated from the entire ACE gene through the construction of linkage disequilibrium (LD) blocks as well as one SNP (rs4291) situated in the promoter of ACE that might affect ACE expression was also selected. Four target SNPs were genotyped using MassARRAY? MALDI-TOF System.
Subjects carried rs4461142 C allele had lower incidence of AMS (OR=0.774, 95%CI =0.557-0.994 P=0.046), whereas other three SNPs showed no relationship with AMS. Subjects with haplotype ‘TATG' have higher incidence of AMS (OR=1.806, 95%CI, 1.141-2.857 P=0.010).
Our results indicated that ACE mutations on certain SNP sites may correlate with the incidence of AMS.