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Introduction: The ’desert people’ or Keriyans are able to maintain normal body functions whilst living in the hot, arid areas of Taklimakan Desert. However, little is known about the adaptive mechanisms in this extreme environment. We explored the relationship between polymorphism of C-344T in the promoter region of the aldosterone synthase gene (CYP11B2) and resting electrocardiogram (ECG) hypervoltage in this population.

Materials and methods: The study recruited 503 Keriyans who were living in the Taklimakan Desert and 237 age/gendermatched controls from the Uighurs living in neighbouring villages. Parameters of physical fitness, ECGs, and biochemistry were compared between the two groups. The C-344T single nucleotide polymorphism (SNP) in the promoter region of CYP11B2 was genotyped by polymerase chain reaction based restriction fragment length polymorphism (PCR-RFLP) and sequencing.

Results: The incidence of ECG left ventricular hypervoltage in the Keriyans was significantly higher than that in the controls (p < 0.001). The frequency of allele 344T was higher in this population than that in the controls (OR = 1.48; 95% CI:1.082-2.023). A higher OR for allele 344T was also seen in Keriyans with ECG left ventricular hypervoltage against those without this finding (OR = 1.557; 95% CI:1.032-2.349).

Conclusion: The polymorphism of C-344T in the promoter region of the CYP11B2 gene was associated with ECG left ventricular hypervoltage in the Keriyan population.