Angiotensin-converting enzyme gene insertion/deletion polymorphism and high-altitude pulmonary edema: An updated meta-analysis

Zheng, Yan; Huang, Jin

doi:10.1177/1470320319900039

Cited by 4 publications

(5 citation statements)

References 14 publications

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“…To date, a number of genes associated with susceptibility to HAPE have been identified, including angiotensinconverting enzyme (ACE), [12][13][14] endothelial nitric oxide synthase (eNOS), 15,16 angiotensin (AGT) and its receptor (AGTR1), 17 heat-shock protein 70 (HSP70), 18 HLA, 19 mitochondrial DNA (mtDNA), 26 aldosterone synthase (CYP11B2), 16 endothelin-1 (ET-1), 12 pulmonary surfactant-associated protein A1 (SP-A1) and A2 (SP-A2), 27 and β2 adrenergic receptor (ADRB2). 28,29 However, few studies have investigated the association between the genetic characteristics of steroid hormone metabolism genes and HAPE.…”

Section: Discussionmentioning

confidence: 99%

“…Studies have found that the polymorphisms of these enzymes are associated with a variety of diseases. 11 Although many genetic association studies have identified dozens of genes associated with susceptibility to HAPE, [12][13][14][15][16][17][18][19] few studies have reported a relationship between the genetic characteristics of steroid hormone metabolism genes and HAPE. Thus, in this study, we conducted a casecontrol association analysis to investigate the correlation between seven steroid hormone metabolism genes (STAR, HSD3B1, HSD3B2, CYP17A1, CYP21A2, CYP11B1, and CYP11B2) and HAPE in a Chinese Han population (Figure 1).…”

Section: Introductionmentioning

confidence: 99%

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Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population

Gao¹,

Xu²,

Ma³

et al. 2022

IJGM

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Purpose Steroid hormone metabolism plays an essential role in high-altitude pulmonary edema (HAPE) progression. This study aimed to investigate the association between polymorphism in seven steroid hormone metabolism genes ( STAR, HSD3B1, HSD3B2, CYP17A1, CYP21A2, CYP11B1 , and CYP11B2 ) and HAPE susceptibility among Han Chinese. Patients and Methods A total of 41 tagSNPs in the seven genes were genotyped using Sequenom MassARRAY SNP assays from 169 HAPE patients (HAPE-p) and 309 matched Han Chinese individuals resistant to HAPE (HAPE-r). The genotypic and allele frequencies, odds ratios (ORs), and 95% confidence intervals (95% CIs) were calculated. Results Four SNPs, including the allele C of rs6203 (p = 0.034, OR [95% CI] = 1.344 [1.022−1.767]) in HSD3B1 , allele G of rs3740397 (p = 0.044, OR [95% CI] = 1.314 [1.007−1.714]) and allele C of rs10786712 (p = 0.039, OR [95% CI] = 0.751 [0.572−0.986]) in CYP17A1 , and allele T of rs6402 (p = 0.006, OR [95% CI] = 0.504 [0.306−0.830]) in CYP11B1 , were significantly associated with HAPE. The distribution of the genotypes of these SNPs also significantly differed between the HAPE-p and HAPE-r groups. Moreover, six haplotypes (the linkage disequilibrium block including rs10883783, rs4919686, rs3740397, rs3824755, and rs10786712) of CYP17A1 were also significantly associated with HAPE. Conclusion The four SNPs located in HSD3B1 (rs6203), CYP17A1 (rs3740397 and rs10786712), and CYP11B1 (rs6402) and the six haplotypes of CYP17A1 are likely to have an effect on HAPE.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population

Gao¹,

Xu²,

Ma³

et al. 2022

IJGM

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“…The concept of performing meta-analysis studies is to confirm the statistical procedure of the combined data of the global studies and also based on single study results, the utility of an intervention of a hypothesis cannot be done (Haidich, 2010), and it has been proven by an enormous number of meta-analysis studies. ACE gene polymorphism has been implemented the meta-analysis studies in almost all the human diseases and showed both the effects of association (Ahmad et al, 2019;Aslbahar et al, 2018;Han et al, 2017;Luo et al, 2016;Mengesha et al, 2019;Xu et al, 2018;Yuan et al, 2017;Zheng and Huang, 2020). However, there are no meta-analysis studies have been documented due to the limited number of global studies have been documented.…”

Section: Discussionmentioning

confidence: 99%

Effect of angiotensin converting enzyme gene studies in nonalcoholic fatty liver disease subjects

Al‐Otaiby¹

2020

Int. j. adv. appl. sci.

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Nonalcoholic fatty liver disease (NAFLD) is associated with obesity, insulin resistance, and type 2 diabetes. ACE gene is the key to involve with transforming Angiotensin-I to the potent vasoconstrictor of angiotensin-II, well-known for the association with all the above-mentioned diseases. Limited studies have been documented with NAFLD and ACE gene I/D polymorphism in the global studies, and there are no studies that have been documented in the Saudi population. The aim of the current study was to investigate the genetic association between angiotensin converting enzyme (ACE) gene, insertion (I)-deletion (D) polymorphisms in NAFLD in the Saudi population. NAFLD is a clinic pathological syndrome produced due to the environment, genetic, and metabolic stress-correlated factors, which are demonstrated clinically as fat accumulation in hepatocytes. This is a hospitalbased case-control study implemented in 95 NAFLD cases and 78 non-NAFLD subjects. Genomic DNA was extracted in all the subjects to perform the PCR with ACE gene I/D polymorphism, and the current study results revealed the negative association between the NAFLD cases and controls in the Saudi population (DD vs II; OR-0.17: 95% CI (0.04-0.64), p=0.04, DD+ID vs II: OR-0.19; 95% CI (0.05-0.70), p=0.006 and D vs I; OR-0.34: 95%CI (0.21-0.57), p=0.003. In conclusion, this study confirms NAFLD has no genetic role in the Saudi population with ACE gene I/D polymorphism analysis.

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“…Each genotype is characterized by varying plasma concentrations of ACE, with II exhibiting low levels, ID displaying medium levels, and DD demonstrating high levels. [36][37][38][39] This disparity in ACE concentration has been established through Baudin's study, which reported serum ACE concentrations of 240 μg/L, 330 μg/L, and 365 μg/L for genotypes II, ID, and DD, respectively. 35 Interestingly, the concentration of angiotensin II does not align with the ACE concentration, as it measured 11.0, 8.6, and 9.9 μg/L for II, ID, and DD, respectively.…”

Section: The Ace I/d Gene Polymorphismmentioning

confidence: 99%

“…However, it demonstrates a compelling association with the plasma concentration of ACE, underscoring the substantial impact of the ACE I/D gene polymorphism on the regulatory mechanisms governing ACE expression at the systemic level. 6, [35][36][37][38][39] The ACE I/D gene polymorphism produces two alleles, namely the insertion allele (I) and the deletion allele (D), resulting in three genotypes: II, ID, and DD. Each genotype is characterized by varying plasma concentrations of ACE, with II exhibiting low levels, ID displaying medium levels, and DD demonstrating high levels.…”

Section: The Ace I/d Gene Polymorphismmentioning

confidence: 99%

The role of angiotensin I - converting enzyme (ACE) insertion/deletion gene polymorphism in hypertension and ACE inhibitor therapy: a narrative review

Handani,

Zullies Ikawati,

Hermawan

2023

IJPTher

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Primary hypertension is the most prevalent type of hypertension, which is primarily attributed to genetic factors. The angiotensin-converting enzyme (ACE) gene has emerged as a prominent candidate among the genetic factors influencing blood pressure regulation. The ACE gene encodes the ACE, which plays a crucial role in the renin-angiotensin system. The ACE gene insertion/deletion (I/D) polymorphism is a variation of the ACE gene that affects blood pressure regulation. Individuals with II, ID, and DD genotypes may exhibit distinct ACE plasma concentrations, potentially contributing to variations in blood pressure levels and response to ACE inhibitor therapy. This article aimed to provide a comprehensive overview of the relationship between the ACE I/D gene with hypertension and angiotensin-converting enzym inhibitor (ACEI) effectiveness. This article presents a narrative review encompassing relevant studies published between 2013 and 2023. A systematic search was conducted using reputable databases such as PubMed, Science Direct, and Scopus. Inclusion criteria were applied, resulting in the selection of 25 articles that met the predefined criteria. The analysis included 25 studies, comprising 5 articles that investigated the impact of ACEI therapy and 20 articles that examined the ACE I/D gene polymorphism in hypertensive populations without ACEI therapy. It can be concluded that compared to the I allele, the D allele of the ACE I/D gene is associated with a higher level of essential hypertension and a reduced ACEI response.

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Angiotensin-converting enzyme gene insertion/deletion polymorphism and high-altitude pulmonary edema: An updated meta-analysis

Cited by 4 publications

References 14 publications

Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population

Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population

Effect of angiotensin converting enzyme gene studies in nonalcoholic fatty liver disease subjects

The role of angiotensin I - converting enzyme (ACE) insertion/deletion gene polymorphism in hypertension and ACE inhibitor therapy: a narrative review

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