ACE genotype and risk of high altitude pulmonary hypertension in Kyrghyz highlanders

Morrell, Nicholas W.; Sarybaev, A. Sh.; Alikhan, Amjad; Миррахимов, М М; Aldashev, Almaz

doi:10.1016/s0140-6736(99)00206-8

Cited by 53 publications

(30 citation statements)

References 4 publications

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“…Many studies have shown a significant ACE gene D allele with essential hypertension [25][26][27][28][29][30][31]. On the other hand, several researchers have shown no significant differences in the allele and genotype distribution of ACE gene polymorphism between low altitude normotensive control and high altitude hypertensive cases [32][33][34][35][36][37][38][39]. The increase in body size has seen to be positively associated with blood pressure.…”

Section: Discussionmentioning

confidence: 99%

“…This might explain the association of essential hypertension and ACE-I allele. The recently described variety of potentially functionally variants in the ACE gene may support the alternative hypothesis [38][39][40]. However, studies in North Indian Punjabi [41][42][43][44][45] reported that diseases such as central obesity, type-2 Diabetes Miletus, and hyperlipidemia are more common but they have a low risk of developing cardiovascular diseases due to their strong genetic background.…”

Section: Discussionmentioning

confidence: 99%

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Association of High Altitude Hypertension with Angiotensin Converting Enzyme (ACE) Gene Insertion/Deletion Polymorphism

Ch¹,

Doza²,

Kumar³

2017

UNOAJ

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The study included ACE gene I/D polymorphism and its association between high altitude hypertension. Genetic, biochemical, anthropometric and Physiometeric results were analyzed using statistical software. The results were non-significant for I/D polymorphism.Objective: ACE is the major enzyme of hypertension and with most commonly reviewed I/D polymorphism. High-altitude exposes various physiological and biochemical changes, which contributes a rise in systemic blood pressure of the body. There are very few studies available in North-India, with a core focus on the high altitude hypertension. Therefore, a current study supported an interest to find out the association of high altitude hypertension with ACE gene I/D polymorphism.Methods: to study the significant association with respect to altitude, genetic, biochemical, anthropometric and physio-metric comparison were conducted among 98 individuals where 489nbeing hypertensive patients and other half being normotensive, inclusive of both males and females. The entire results were finally examined and analyzed using statistical software SPSS 16.0 version. Results:According to study results, mean arterial blood pressure and triglycerides were significantly (p<0.05) associated with SBP among both hypertensive and normotensives. Whereas HDL, LDL-HDL ratio, CHO-HDL were significantly associated only among hypertensive, and age, PP, and SpO2 have been significantly (p<0.05) associated with SBP among normotensive, a strong predictor for SBP. Conclusion:The genotypic observations were visibly linked with the disease, however, the results were statistically non-significant (ID/DD vs. II; OR: 0.54, 95% CI: 0.20-1.44, p= 0.217). A further study with considerate knowledge of noteworthy dynamics, mainly, altitude, population size, and ethnicity are recommended.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Association of High Altitude Hypertension with Angiotensin Converting Enzyme (ACE) Gene Insertion/Deletion Polymorphism

Ch¹,

Doza²,

Kumar³

2017

UNOAJ

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“…As a proof of concept, we studied EGLN1 because it plays a key role in oxygen homeostasis and is also believed to be a target of many pharmacological interventions that aim to stabilize HIF or lower HIF activity (9)(10)(11). Although variations in genes of pathways related to hypoxia, such as HIF-1, endothelial function, and vascular remodeling, have been studied (12)(13)(14)(15)(16)(17), none of the studies so far have reported polymorphisms linked to EGLN1 in high-altitude adaptation. We analyzed the allele frequencies of EGLN1 polymorphisms that differed between the constitution types in populations residing at different altitudes as well as in Table 2.…”

Section: Discussionmentioning

confidence: 99%

EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda

Aggarwal

Negi²,

Jha³

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

142

140

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It is being realized that identification of subgroups within normal controls corresponding to contrasting disease susceptibility is likely to lead to more effective predictive marker discovery. We have previously used the Ayurvedic concept of Prakriti , which relates to phenotypic differences in normal individuals, including response to external environment as well as susceptibility to diseases, to explore molecular differences between three contrasting Prakriti types: Vata, Pitta, and Kapha . EGLN1 was one among 251 differentially expressed genes between the Prakriti types. In the present study, we report a link between high-altitude adaptation and common variations rs479200 (C/T) and rs480902 (T/C) in the EGLN1 gene. Furthermore, the TT genotype of rs479200, which was more frequent in Kapha types and correlated with higher expression of EGLN1 , was associated with patients suffering from high-altitude pulmonary edema, whereas it was present at a significantly lower frequency in Pitta and nearly absent in natives of high altitude. Analysis of Human Genome Diversity Panel-Centre d’Etude du Polymorphisme Humain (HGDP-CEPH) and Indian Genome Variation Consortium panels showed that disparate genetic lineages at high altitudes share the same ancestral allele (T) of rs480902 that is overrepresented in Pitta and positively correlated with altitude globally ( P < 0.001), including in India. Thus, EGLN1 polymorphisms are associated with high-altitude adaptation, and a genotype rare in highlanders but overrepresented in a subgroup of normal lowlanders discernable by Ayurveda may confer increased risk for high-altitude pulmonary edema.

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“…During the last few decades, a significant amount of work has been done to understand the human biology of HA adaptation and disorders (Mirrakhimov & Winslow, 1996 ;Semenza, 1999 ;Lahiri, 2000). Because of their intimate involvement, two main physiological systems have been targeted ; namely, the sympathetic-adrenalmedullary system (Mazzeo et al 1994 ;Lahiri, 2000 ;Prabhakar, 2000) and the reninangiotensin-aldosterone system (Milledge & Catley, 1987 ;Morrell et al 1999). In recent years, attention has shifted towards candidate genes, notable among them being the ACE gene (Rupert et al 1999 ;Morell et al 1999) and its insertion\ deletion (I\D) polymorphism in particular.…”

Section: mentioning

confidence: 99%

Angiotensin converting enzyme insertion allele in relation to high altitude adaptation

Pasha

Khan

Kumar

et al. 2001

Annals of Human Genetics

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Angiotensin converting enzyme (ACE) gene I\D polymorphism has been associated with high altitude (HA) disorders as well as physical performance. We, however, envisage that the polymorphism may be associated with adaptation to the hypobaric hypoxia of altitude, thus facilitating physical performance. For this purpose, three unrelated adult male groups, namely (1) the Ladakhis (HLs), who reside at and above a height of 3600 m, (2) lowlanders, who migrated to Ladakh (MLLs), and (3) resident lowlanders (LLs), have been investigated. The HLs had significantly ( p 0n001) greater numbers of the II homozygotes and the ID heterozygotes than the DD homozygotes, the genotype distribution being 0n46, 0n43 and 0n11 for II, ID and DD genotypes respectively. The MLLs comprised 60 % II homozygotes, which was higher ( p 0n001) than the HLs (46 %). In the LLs, the heterozygotes were greater ( p 0n001) in number than the II and DD homozygotes. The I allele frequency was 0n72 in the MLLs, 0n67 in the HLs and 0n55 in the LLs. Polymorphism study suggested that the II genotype could be associated with altitude adaptation, which might influence physical efficiency. People living at sea level experience various levels of physical discomfort at high altitude (HA) due to hypobaric hypoxia and cold. The effects of hypoxia on cardio-pulmonary function (Sutton et al. 1988 ; Mirrakhimov & Winslow, 1996) are most evident during hard physical work when the already taxed oxygen transport system needs to meet increased metabolic demands. This results in somewhat reduced levels of performance of individuals when faced with tasks demanding high levels of physical and mental performance. However, long-term in-

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ACE genotype and risk of high altitude pulmonary hypertension in Kyrghyz highlanders

Cited by 53 publications

References 4 publications

Association of High Altitude Hypertension with Angiotensin Converting Enzyme (ACE) Gene Insertion/Deletion Polymorphism

Association of High Altitude Hypertension with Angiotensin Converting Enzyme (ACE) Gene Insertion/Deletion Polymorphism

EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda

Angiotensin converting enzyme insertion allele in relation to high altitude adaptation

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