AI Article Synopsis
- High-altitude natives have genetic adaptations that help them cope with low oxygen levels, indicating a potential genetic basis for their ability to thrive in hypoxic environments.
- Research identified four specific endothelin-1 (ET-1) gene variants and their association with lower ET-1 levels in highlanders compared to lowlanders, suggesting unique genetic markers in high-altitude populations.
- Combinations of certain alleles were found to be prevalent in highlanders and linked to lower plasma ET-1 levels, implying these genetic traits may enhance adaptation and assist acclimatization for those temporarily living at high altitudes.
Article Abstract
High-altitude natives are adapted to hypobaric hypoxia, suggestive of genetic basis of adaptation. Since endothelin-1 (ET-1) is of prime importance in high-altitude disorders in sojourners, we envisaged the role of allelic variants of ET-1 in high-altitude adaptation. Four ET-1 polymorphisms, viz., (CT)(n)-(CA)(n) repeat, -3A/-4A, G2288T, and Lys198Asn, were investigated in 426 highlanders (HLs) and 236 lowlanders (LLs). The plasma ET-1 levels, SBP and BMI were significantly lower in the HLs than those in LLs (p<0.0001). The Longer-repeats (31-45), G allele, Longer-repeats/GG, and Longer-repeats/Lys198Lys combinations were overrepresented in the HLs (p<0.0001, p=0.03, p<0.0001, and p<0.0001, respectively). The Longer-repeats, -3A/-3A, GG and Lys198Lys genotypes associated with significantly lower ET-1 levels in the HLs (p<0.0001, p=0.001, p<0.0001, and p<0.0001, respectively). Combinations of Longer-repeats with -3A/-3A, GG, and Lys198Lys genotypes, and -3A/-3A/Lys198Lys combination revealed association with lower ET-1 levels in the HLs (p<0.001). The study reports over-representation of Longer-repeats, G allele, and wild-type genotype combinations in high-altitude natives. Interaction between these alleles and association with lower ET-1 levels strengthen their association with high-altitude adaptation. Presence of such alleles in sojourners may help in acclimatization.
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| http://dx.doi.org/10.1016/j.bbrc.2006.01.086 | DOI Listing |
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