Abstract
BackgroundGorkhas, a sub-mountainous population of the Himalayan region, are known for strength and bravery. In the present study when “Gorkha” is used without brackets, we are mentioning Gorkhas of Tibeto-Burman origin. Physical capability, strength and endurance are important components of fitness associated with genetic traits. The aim of this study was to examine the endurance potential of male Gorkha soldiers, based on endurance-related genetic markers ACE I/D, ACTN3 Arg (R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T).MethodsGenotypic and allelic frequencies were determined in 374 male Gorkha soldiers (Tibeto-Burman). These frequencies were compared with frequencies obtained from Gorkha (Indo-Aryan), high-altitude natives (Tibeto-Burman) and Indian lowlanders (Indo-Aryan). “Total genotype score” (TGS) was calculated from accumulated combination of polymorphisms with maximum value “100” for theoretically “optimal” polygenic score. Probability of occurrence of “optimal” endurance profile was also determined.ResultsACE II genotypic frequency was highest in Tamangs followed by Gurungs, Rais, Limbus and Magars. No statistical difference in genotypic and allelic frequency of ACTN3 Arg(R)577Ter(X) was noted within the groups. Rais showed the highest CKMM A allele frequency (0.908) compared to other Gorkha (Tibeto-Burman) groups. Limbus and Tamangs showed the highest eNOS G allele frequency (0.938 and 0.915, respectively) compared to that of other groups. Probability of male Gorkha soldiers possessing a theoretically optimal polygenic endurance profile for four candidate polymorphisms was ~3.35% (1 in 30). Four percent of the population of male Gorkha soldiers (15 in 374) exhibited an optimal TGS 100, and 16% exhibited TGS 87 for endurance compared to male Indian soldiers belonging to the lowland (Indo-Aryan) and Gorkha (Indo-Aryan) populations suggesting an overall more “favourable” polygenic profile in the male Gorkha soldier (Tibeto-Burman) population.ConclusionsThis study presents evidence of higher frequency of endurance-associated genes in the Gorkhas implying thereby that such genetically endowed individuals from the population may be selected and trained for achieving excellence in endurance-related elite sports activities.
Highlights
Gorkhas, a sub-mountainous population of the Himalayan region, are known for strength and bravery
The study reports for the first time the genotypic and allelic frequencies of four endurance-associated genetic markers in the male Gorkha soldiers
Based on the ethno-linguistic questionnaire, the male Gorkha soldier participants belonged to five ethnic groups of Tibeto-Burman linguistic phyla: Gurungs (28 participants were from Nepal and 47 were from India), Magars (25 participants were from Nepal and 101 were from India), Rais (37 participants were from Nepal and 37 were from India), Tamangs (36 participants were from Nepal and 18 were from India) and Limbus (25 participants were from Nepal and 40 were from India) (Table 1). (b)Repository DNA samples from (i) Gorkhas belonging to the Indo-Aryan linguistic phylum, (ii) Indian lowlanders belonging to the Indo-Aryan linguistic phylum and (iii) high-altitude natives of Ladakh belonging to Tibeto-Burman linguistic phylum were used for generating genotypic and allelic frequencies for comparison with male Gorkha soldiers (Tibeto-Burman)
Summary
A sub-mountainous population of the Himalayan region, are known for strength and bravery. The aim of this study was to examine the endurance potential of male Gorkha soldiers, based on endurance-related genetic markers ACE I/D, ACTN3 Arg (R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T). Himalayan Sherpas are well known for their physical strength and endurance in the high-altitude terrain. Higher frequency of I allele of ACE (angiotensin-converting enzyme gene, location: 17q23.3) have been reported in Sherpas [6]. Arg(R)577Ter(X) polymorphism of ACTN3 (alpha actinin 3 gene, location: 11q 13.1) (functional R allele and non-functional X allele) is associated with generation of rapid forceful contractions [12] and muscle performance [13] with frequency of XX-null genotype (loss of alpha actinin 3) being higher in endurance athletes [14, 15]. Higher frequency of wild G allele of eNOS Glu298Arg (G894T) polymorphism was reported in highaltitude natives from Ladakh suggesting advantageous consequences in high-altitude environment [22, 23]
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