Angiotensin-converting enzyme gene polymorphism in Nepal

Umemura, Satoshi; Kawasaki, Terukazu; Ishigami, Tomoaki; Fujita, Takayuki; Hibi, Kiyoshi; Kawasaki, Mikio; Itoh, Kazuyoshi; Yano, Yutaka; Ogaki, Tetsuro; Acharya, Gopal P.; Ishii, Masao

doi:10.1038/sj.jhh.1000655

Cited by 8 publications

(4 citation statements)

References 17 publications

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“…Thus, the frequency differences within the subgroups (although not significant after Bonferroni correction, p < 0.00250), could be attributed to their evolutionary adaptation. The observed genotypic frequency of ACE I/D in Tamangs was in agreement with frequency distribution reported from inhabitants of Kotyang, majority of whom were Tamangs [30]. Tamangs are indigenous inhabitants of the western Himalayan regions and one of the major Tibeto-Burman speaking communities who trace their ancestry to Tibet and further back to Mongolia ( Tamang people.…”

Section: Discussionsupporting

confidence: 85%

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

et al. 2017

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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.Results ACE 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s40798-017-0085-0) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 85%

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

et al. 2017

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“…It is, however, difficult to obtain large enough sample size of Sherpas who have lost adaptation to high altitude because of the fact that most Sherpas live at high altitude throughout their lifetime. Thus, we chose a population in Kathmandu who reside geographically near to Namche Bazaar as a reference group principally based on the study by Prugnolle et.al 17 in which the authors demonstrated that geography predicts neutral genetic diversity of human populations and on a investigation 18 in that study the authors demonstrated that ACE I/D polymorphism was distributed continuously in populations in the Asia continent, including Chinese, Japanese, Bangladeshi, Indian, and Sikh, and reportedly Nepalese as well 19 . Therefore, we believe that the comparison of the ACE I/D polymorphism between the two populations in the current study is valid and reliable.…”

Section: Genotypic Distributions and Allelic Frequencies Of The Ace Imentioning

confidence: 99%

“…In addition, specific for the ACE I/D polymorphism, it is distributed continuously in populations in the Asia continent, including Chinese, Japanese, Bangladeshi, Indian, and Sikh 18 , and reportedly Nepalese as well. 19 Thus, the non-Sherpa Nepalese in Kathmandu were chosen as a reference control in comparison with Sherpas in the current comparative genetic study. Except for difference in high-altitude exposure between the two groups, other environmental factors such as nutrition, physical training, and medical health services were felt to be essentially equivalent in the current Sherpa and the non-Sherpa Nepalese groups.…”

Section: Settings and Participantsmentioning

confidence: 99%

Adaptation to High Altitude in Sherpas: Association with the Insertion/Deletion Polymorphism in the Angiotensin-Converting Enzyme Gene

Droma

Hanaoka

Basnyat

et al. 2008

Wilderness & Environmental Medicine

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Objective-Sherpas are well known for their physical strength at high altitudes. They adapt to high altitude so well that little acute or chronic mountain sickness has been documented in them. The possible genetic basis for this adaptation is, however, unclear. The objective of this study was to elucidate the genetic background underlying this characteristic among Sherpas with respect to the angiotension-converting enzyme (ACE) gene. Conclusions-These findings suggest that the over-represented I allele of the ACE gene in Sherpas might be one of the fundamental genetic factors responsible for maintaining physiological low-altitude ACE activity at high altitude, which may have an advantageous physiological role in adapting to a high-altitude environment. Methods-We2

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“…Only a handful of published genetic studies on Gorkhas/Nepalese are available56789101112. Nepal is situated just to the south of the Himalayan mountain peaks.…”

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confidence: 99%

Genetic Diversity in Gorkhas: an Autosomal STR Study

Preet

Malhotra

Shrivastava

et al. 2016

Sci Rep

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Genotyping of highly polymorphic autosomal short tandem repeat (STR) markers is a potent tool for elucidating genetic diversity. In the present study, fifteen autosomal STR markers were analyzed in unrelated healthy male Gorkha individuals (n = 98) serving in the Indian Army by using AmpFlSTR Identifiler Plus PCR Amplification Kit. In total, 138 alleles were observed with corresponding allele frequencies ranging from 0.005 to 0.469. The studied loci were in Hardy-Weinberg Equilibrium (HWE). Heterozygosity ranged from 0.602 to 0.867. The most polymorphic locus was Fibrinogen Alpha (FGA) chain which was also the most discriminating locus as expected. Neighbor Joining (NJ) tree and principal component analysis (PCA) plot clustered the Gorkhas with those of Nepal and other Tibeto-Burman population while lowlander Indian population formed separate cluster substantiating the closeness of the Gorkhas with the Tibeto-Burman linguistic phyla. Furthermore, the dataset of STR markers obtained in the study presents a valuable information source of STR DNA profiles from personnel for usage in disaster victim identification in military exigencies and adds to the Indian database of military soldiers and military hospital repository.

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Angiotensin-converting enzyme gene polymorphism in Nepal

Cited by 8 publications

References 17 publications

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

Adaptation to High Altitude in Sherpas: Association with the Insertion/Deletion Polymorphism in the Angiotensin-Converting Enzyme Gene

Genetic Diversity in Gorkhas: an Autosomal STR Study

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