Key result
The D allele of the ACE gene I/D polymorphism was significantly more frequent in patients with high altitude pulmonary edema compared to acclimatized controls.
Why the study?
Are polymorphisms in RAAS genes associated with high altitude pulmonary edema in an Indian population?
Case-Control
Are polymorphisms in RAAS genes associated with high altitude pulmonary edema in an Indian population?
The D allele of the ACE gene is associated with an increased risk of high altitude pulmonary edema in the Indian population.
Supports targeted HAPE prophylaxis in genetically susceptible Indians; leaves open prospective validation before clinical adoption.
OBJECTIVE: High altitude pulmonary edema (HAPE) is a potentially fatal high altitude illness occurring as a result of hypobaric hypoxia with an unknown underlying genetic mechanism. Recent studies have shown a possible association between HAPE and polymorphisms in genes of the renin-angiotensin-aldosterone system (RAAS), which play a key role in sensitivity of an individual toward HAPE. METHODS: For the present investigation, study groups consisted of HAPE patients (HAPE) and acclimatized control subjects (rCON). Four single-nucleotide polymorphisms (SNPs) were genotyped using restriction fragment length polymorphism (RFLP) analysis in genes of the RAAS pathway, specifically, renin (REN) C(-4063)T (rs41317140) and RENi8-83 (rs2368564), angiotensin (AGT) M(235)T (rs699), and angiotensin-converting enzyme (ACE) insertion/deletion (I/D) (rs1799752). RESULTS: Only the I/D polymorphism of the ACE gene showed a significant difference between the HAPE and rCON groups. The frequency of the D allele was found to be significantly higher in the HAPE group. Arterial oxygen saturation levels were significantly lower in the HAPE group compared with the rCON group and also decreased in the I/D and D/D genotypes compared with the I/I genotype in these groups. The other polymorphisms occurring in the REN and AGT genes were not significantly different between the 2 groups. CONCLUSIONS: These findings demonstrate a possible association of the I/D polymorphism of the ACE gene with the development of HAPE, with D/D being the at-risk genotype.
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Bhagi et al. (2015) conducted a case-control in High altitude pulmonary edema (HAPE). ACE gene I/D polymorphism (D allele) vs. Acclimatized control subjects was evaluated on Difference in ACE gene I/D polymorphism frequency. The D allele of the ACE gene I/D polymorphism was significantly more frequent in patients with high altitude pulmonary edema compared to acclimatized controls.
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