Angiotensin-Converting Enzyme (ACE) Insertion/Deletion (I/D) Polymorphism as a Conjoint Regulator of Coagulation, Fibrinolytic, and RAAS Pathway in Infertility and Associated Pregnancy Complications

Kumar, Parimalam; Sharma, Vaishnavi; Kaur, Dipneet; Purkait, Pulakes

doi:10.1155/2022/1695769

Cited by 11 publications

(4 citation statements)

References 82 publications

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“…The ACE I/D polymorphism has been extensively studied, correlating with various studies. The ACE I/D polymorphism has been associated with conditions like vitiligo [ 11 ], different cancers [ 12 ], infertility and loss of pregnancies [ 13 ], cerebrovascular accidents, diabetic nephropathy and other renal disease [ 14 , 15 ], and cardiovascular complications [ 16 ]. Along with them, the DD genotype has also been associated with increased mortality in ARDS patients in several studies [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Effect of the Angiotensin-Converting Enzyme (ACE) (I/D) Polymorphism in COVID-19 Patients and Their Healthy Contacts

Gupta¹,

Mohapatra²,

Patel³

et al. 2023

Cureus

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Introduction The quest to understand the pathophysiology behind the deleterious effects of the coronavirus disease 2019 (COVID-19) outbreak took a turn when involvement of the angiotensin converting enzyme (ACE) receptors in different organs, especially the lungs, could explain all the clinical manifestations and adverse events in patients. The I/D polymorphism in the ACE gene, having been attributed in various studies, was also seen to have an effect in this pandemic. Present study aimed to analyze the effect of this I/D mutation in COVID-19 patients and in their healthy contacts. Methods Patients with past history of COVID-19 infection and their healthy contacts were enrolled in the study after obtaining ethical clearance and informed consent. The polymorphism was studied by real-time polymerase chain reaction (PCR). Data was analyzed in SPSS version 20 (IBM Corp., Armonk, NY, USA). p value less than 0.05 was taken as significant. Results The allelic distribution followed the Hardy-Weinberg equilibrium, with the wild ‘D’ allele being dominant in the population. Between the case and controls, the mutant ‘I’ allele was observed more in the controls, and the association was statistically significant. Conclusion From the results of the present study, it could be concluded that while the wild ‘D’ allele led to higher chances of being affected with COVID-19, the polymorphism to ‘I’ allele was relatively protective in nature.

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Section: Discussionmentioning

confidence: 99%

Effect of the Angiotensin-Converting Enzyme (ACE) (I/D) Polymorphism in COVID-19 Patients and Their Healthy Contacts

Gupta¹,

Mohapatra²,

Patel³

et al. 2023

Cureus

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“…The gene most consistently associated with HPV infection was ACE1, where the I allele emerged as a protective factor. The allele's protective effect could be attributed to its connection with a lower ACE activity and subsequent reduction in ROS levels given that angiotensin II activates NAD(P)H oxidases [27,28]. Previously, an enhanced ACE activity was verified in tumor progression in cervical carcinoma [48,49].…”

Section: Discussionmentioning

confidence: 99%

“…ACE I/D-variation consists of the insertion or deletion (I/D) of a 287 bp fragment in intron 16. The D allele has been associated with higher ACE activity, accounting for 47% of the total phenotypic variance of serum enzyme levels [28].…”

Section: Introductionmentioning

confidence: 99%

Genetic Modulation of HPV Infection and Cervical Lesions: Role of Oxidative Stress-Related Genes

Inácio,

Aguiar,

Rodrigues

et al. 2023

Antioxidants

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Human papillomavirus (HPV) infection is a necessary but not sufficient factor for the development of invasive cervical cancer (ICC) and high-grade intraepithelial lesion (HSIL). Oxidative stress is known to play a crucial role in HPV infection and carcinogenesis. In this study, we comprehensively investigate the modulation of HPV infection, HSIL and ICC, and ICC through an exploration of oxidative stress-related genes: CβS, MTHFR, NOS3, ACE1, CYBA, HAP, ACP1, GSTT1, GSTM1, and CYP1A1. Notably, the ACE1 gene emerges as a prominent factor with the presence of the I allele offering protection against HPV infection. The association of NOS3 with HPV infection is perceived with the 4a allele showing a protective effect. The presence of the GSTT1 null mutant correlates with increased susceptibility to HPV infection, HSIL and ICC, and ICC. This study also uncovers intriguing epistatic interactions among some of the genes that further accentuate their roles in disease modulation. Indeed, the epistatic interactions between the BB genotype (ACP1) and DD genotype (ECA1) were shown to increase the risk of HPV infection, and the interaction between BB (ACP1) and 0.0 (GSTT1) was associated with HPV infection and cervical lesions. These findings underscore the pivotal role of four oxidative stress-related genes in HPV-associated cervical lesions and cancer development, enriching our clinical understanding of the genetic influences on disease manifestation. The awareness of these genetic variations holds potential clinical implications.

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“…[ 1 ] In addition to maternal multiple organ dysfunction and intrauterine growth restriction, PE is associated with several adverse outcomes including fetal, neonatal, and maternal mortality. [ 2 ] Although the etiology of PE remains controversial, clinical and pathological studies suggest that systemic inflammatory responses, [ 3 , 4 ] immune dysfunction, [ 5 ] coagulation/fibrinolytic system, [ 6 ] and abnormal placentation [ 7 ] play central roles in the pathogenesis of this syndrome. Prenatal care and timely diagnosis are still necessary for the treatment of preeclampsia, as well as for proper management and timely delivery.…”

Section: Introductionmentioning

confidence: 99%

Fibrinogen to albumin ratio, a novel serum indicator for evaluating the severity of preeclampsia: A single-center retrospective study

et al. 2023

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Preeclampsia (PE) is a disorder that affects approximately 5% to 10% of pregnant women. Timely and accurate identification of PE and assessment of its severity are crucial. Therefore, it is necessary to develop predictive indicators which are easily measured in routine antenatal examinations to enable the early detection of PE and assess its severity. We designed a single-center retrospective study in our daily work to assess whether the serum levels of fibrinogen to albumin ratio (FAR), fibrinogen (Fib), albumin (ALB), prothrombin time, calcium (Ca), activated partial thrombin time, creatinine (Cr), D-dimer(D-D), platelet, white blood cell, neutrophil, and lymphocyte counts could help in assessing PE and evaluating its severity. Our findings showed that the serum levels of FAR, Cr, Fib, and D-D were significantly higher in the severe preeclampsia group (sPE) compared with the control and mild preeclampsia groups, whereas the levels of ALB and Ca were significantly lower in sPE patients. In addition, no differences were found between the control and PE groups in terms of prothrombin time, activated partial thrombin time, platelet, white blood cell, neutrophils, and lymphocytes counts. Furthermore, FAR is a novel and better indicator for evaluating the severity of PE, which has not been reported before. And it is an independent risk factor for the development of sPE. In conclusion, the serum levels of FAR, Cr, D-D and Fib were positively correlated with PE, whereas ALB and Ca were negatively correlated with PE severity, which might be valuable in evaluating the severity of PE. FAR proved to be a feasible diagnostic marker for sPE with sensitivity and specificity comparable to those of ALB and Fib.

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Angiotensin-Converting Enzyme (ACE) Insertion/Deletion (I/D) Polymorphism as a Conjoint Regulator of Coagulation, Fibrinolytic, and RAAS Pathway in Infertility and Associated Pregnancy Complications

Cited by 11 publications

References 82 publications

Effect of the Angiotensin-Converting Enzyme (ACE) (I/D) Polymorphism in COVID-19 Patients and Their Healthy Contacts

Effect of the Angiotensin-Converting Enzyme (ACE) (I/D) Polymorphism in COVID-19 Patients and Their Healthy Contacts

Genetic Modulation of HPV Infection and Cervical Lesions: Role of Oxidative Stress-Related Genes

Fibrinogen to albumin ratio, a novel serum indicator for evaluating the severity of preeclampsia: A single-center retrospective study

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