Angiotensin-converting enzyme insertion/deletion polymorphism as a potential risk factor of congenital heart disease: insights from a tertiary pediatric cardiac care centre from North India

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dc.contributor.authorAhamad, Sen_US
dc.contributor.authorKukshal, Pen_US
dc.contributor.authorKumar, Aen_US
dc.contributor.authorChellappan, Sen_US
dc.contributor.authorSathe, Yen_US
dc.contributor.authorMurthy, PR.en_US
dc.date.accessioned2025-05-12T08:25:52Z
dc.date.available2025-05-12T08:25:52Z
dc.date.issued2024-12
dc.description.abstractBackground: Our study aims to elucidate the genetic influence of angiotensin-converting enzyme insertion/deletion (ACE I/D) polymorphism on congenital heart disease (CHD) in a north Indian cohort. Methods: 667 CHD cases, including 433 individuals with parental data and 104 controls were enrolled and genotyped by polymerase chain reaction. Case-control association, parental transmission test, and association of patients' and parents' clinical parameters with ACE I/D were explored. Results: Our findings highlight significant associations, notably the increased CHD risk conferred by the DD genotype in females (p=0.036; OR=1.68), its correlation with abnormal hemoglobin levels (p=0.049; OR=1.68), and its impact on primigravida (p=0.05). Conversely, the II genotype was found to significantly elevate the risk of CHD in offspring of tobacco-consuming fathers by 2.5-fold (p=0.029). Notably, cyanotic cases exhibited a heightened prevalence of ACE I/D mutations (p=0.059), with tetralogy of Fallot (TOF) showing the strongest association (p=0.024). Additionally, the DD genotype's involvement in conditions such as stenosis (p=0.026) and pulmonary artery hypertension (PAH) (p=0.05) underscores its clinical relevance. The parent of origin test showed maternal transmission of the D allele in combined (p=0.037) and acyanotic cases (p=0.039) and paternal transmission in ventricular septal defect (p=0.021). Conclusions: This is the first study from India and possibly the only study globally that reports a significant association between ACE I/D and CHD, highlighting the importance of genetic factors in CHD susceptibility.en_US
dc.identifier.affiliationsDepartment of Genetics, Sri Sathya Sai Sanjeevani Research Foundation, Palwal, Haryana, Indiaen_US
dc.identifier.affiliationsDepartment of Genetics, Sri Sathya Sai Sanjeevani Research Foundation, Palwal, Haryana, Indiaen_US
dc.identifier.affiliationsDepartment of Genetics, Sri Sathya Sai Sanjeevani Research Foundation, Palwal, Haryana, Indiaen_US
dc.identifier.affiliationsSri Sathya Sai Sanjeevani International Centre for Child Heart Care and Research, Palwal, Haryana, Indiaen_US
dc.identifier.affiliationsSri Sathya Sai Sanjeevani International Centre for Child Heart Care and Research, Palwal, Haryana, Indiaen_US
dc.identifier.affiliationsSri Sathya Sai Sanjeevani Centre for Child Heart Care and Training in Paediatric Cardiac Skills, Navi Mumbai, Maharashtra, Indiaen_US
dc.identifier.citationAhamad S, Kukshal P, Kumar A, Chellappan S, Sathe Y, Murthy PR.. Angiotensin-converting enzyme insertion/deletion polymorphism as a potential risk factor of congenital heart disease: insights from a tertiary pediatric cardiac care centre from North India . International Journal of Scientific Reports. 2024 Dec; 10(12): 422-431en_US
dc.identifier.issn2454-2156
dc.identifier.issn2454-2164
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/246979
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber12en_US
dc.relation.volume10en_US
dc.source.urihttps://doi.org/10.18203/issn.2454-2156.IntJSciRep20243493en_US
dc.subjectACE insertion/deletionen_US
dc.subjectCHDen_US
dc.subjectAssociationen_US
dc.subjectParental transmissionen_US
dc.subjectNorth Indiaen_US
dc.titleAngiotensin-converting enzyme insertion/deletion polymorphism as a potential risk factor of congenital heart disease: insights from a tertiary pediatric cardiac care centre from North Indiaen_US
dc.typeJournal Articleen_US
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