A Systematic Review on Genetic Polymorphisms Associated with Hypertension Risk
Jaiyeoba-Ojigho Jennifer Efe *
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Omashim Oluwakemi Ochonogor
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Chris-Ozoko Ebele Lilian
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Ubogu Joseph Afokeoghene
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Okolie Emmanuel Ikechukwu
Department of Nursing and Midwifery, University of Central Lancashire, Preston, England.
David Chinaecherem Innocent
Department of Epidemiology, School of Public Health, University of Port-Harcourt, Rivers State, Nigeria.
Innocent Onyesom
Department of Biochemistry, Faculty of Basic Medical Sciences, Malaria Research Unit, Delta State University, Abraka, Nigeria.
Ovuakporaye Simon Irikefe
Department of Human Physiology, Faculty of Basic Medical Sciences, Delta State, University, Abraka, Nigeria.
Okonkwo Charles Chinemerem
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Imariabe Nosakhare Samuel
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Etugbo Ann Omamuzo
College of Medicine, Delta State University, Abraka, Delta State, Nigeria.
Jeremiah Ogheneyole
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Uti Praise Obielumani
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Uririoghene Annabel Duruvwe
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
Anyanwu Chidinma
Department of Human Anatomy, Faculty of Basic Medical Sciences, Delta State University, Abraka, Nigeria.
*Author to whom correspondence should be addressed.
Abstract
Background: Hypertension is a major global public health burden with a significant heritable component. Despite extensive genomic research, evidence linking specific genetic polymorphisms to hypertension risk remains inconsistent, partly due to a lack of diversity in study populations and methodological heterogeneity.
Aim: This systematic review aimed to synthesise and critically appraise evidence of genetic polymorphisms associated with essential hypertension risk in adults, with a specific focus on population diversity and methodological quality.
Methods: The review followed PRISMA guidelines. A comprehensive search of five databases (PubMed, Embase, Scopus, Web of Science, Cochrane Library) was conducted. Observational studies (case-control, cohort) investigating specific polymorphisms in adults with essential hypertension were included. Two reviewers independently performed study selection, data extraction, and quality assessment using the Critical Appraisal Skills Programme (CASP) checklist. A narrative synthesis was conducted.
Results: Five studies (total n = 3,851 participants) were included. Quality assessment using the CASP tool revealed that most case-control studies were of moderate quality (rated as "Fair"), limited by factors such as modest sample sizes and hospital-based recruitment. Findings indicated that genetic risk is highly population-specific. For example, the ACE I/D polymorphism was significantly associated with hypertension in a North Indian population but showed no association in a Senegalese cohort. A high-quality ("Good") longitudinal Japanese cohort study demonstrated that polygenic accumulation of four SNPs predicted 12-year hypertension risk (OR up to 16.9). Novel associations were reported for GPR158 in a Han Chinese population and *PAI-1* in North Indian participants.
Conclusion: This review underscores the polygenic and population-specific architecture of hypertension. The current evidence base, marked by methodological limitations and ancestry-specific findings, is insufficient for the clinical application of individual polymorphism testing. Future research must prioritise large, diverse population-based cohorts, robust study designs, and investigations of gene-environment interactions to enable equitable progress in precision public health.
Keywords: Hypertension, genetic polymorphism, single nucleotide polymorphism, genetic association studies, systematic review, critical appraisal, CASP