Evidence map›Paper›PMID 42271435›Full record

ArticleBMC medical genomics2026

Associations of genetic variants in TCF7L2, MC4R, AGT and ACE genes with cardiometabolic diseases in Black South Africans.

Ndonwi Elvis Ngwa, Keren de Buys, Don Makwakiwe Matshazi, Naomi S Levitt, Carl Lombard, Glenda Mary Davison, Tandi Edith Matsha, Andre Pascal Kengne, Sian Megan Joanna Hemmings, Nasheeta Peer

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Article in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Ndonwi Elvis NgwaSAMRC/CPUT, Cardiometabolic Health Research Unit, Department of Biomedical Sciences, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Old Science Building, Bellville, 1906, South Africa. ngwaelvis73@gmail.com.
Keren de BuysBiomedical Research and Innovation Platform, South African Medical Research Council, Cape Town, 7505, South Africa.
Don Makwakiwe MatshaziSAMRC/CPUT, Cardiometabolic Health Research Unit, Department of Biomedical Sciences, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Old Science Building, Bellville, 1906, South Africa.
Naomi S LevittDepartment of Medicine, Faculty of Health Sciences, Chronic Disease Initiative for Africa, University of Cape Town, Cape Town, 7935, South Africa.
Carl LombardBiostatistics Research Unit, South African Medical Research Council, Cape Town, 7505, South Africa.
Glenda Mary DavisonSAMRC/CPUT, Cardiometabolic Health Research Unit, Department of Biomedical Sciences, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Old Science Building, Bellville, 1906, South Africa.
Tandi Edith MatshaSAMRC/CPUT, Cardiometabolic Health Research Unit, Department of Biomedical Sciences, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology, Old Science Building, Bellville, 1906, South Africa.
Andre Pascal KengneNon-Communicable Diseases Research Unit, South African Medical Research Council, Cape Town and Durban, 7505, South Africa.
Sian Megan Joanna HemmingsSAMRC/Stellenbosch University Genomics of Brain Disorders Research Unit, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, 7505, South Africa.
Nasheeta PeerNon-Communicable Diseases Research Unit, South African Medical Research Council, Cape Town and Durban, 7505, South Africa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOur study investigated the association between transcription factor 7-like 2 (TCF7L2-rs7903146), angiotensin convertase enzyme (ACE-rs4646994), angiotensinogen (AGT-rs699), angiotensin II type 1 receptor (AGT1R-rs5186), fat mass and obesity-associated (FTO-rs17817499) and melanocortin 4 receptor (MC4R-rs17782313, rs12970134 and rs229616) single nucleotide polymorphisms (SNPs) with type 2 diabetes (T2D), obesity and hypertension in a Black South African population.

methodsThis cross-sectional study involved 560 Black South Africans aged 25 to 74 years. Participant demographic and lifestyle characteristics were self-reported; anthropometry and blood pressures (BP) measured; oral glucose tolerance tests used to diagnose T2D; and SNPs genotyped by polymerase chain reaction. The Benjamini-Hochberg method was used to control for multiple hypothesis testing, using a significance threshold of 0.12.

resultsUsing the median test, systolic BP was significantly higher in carriers of the G/G genotype of rs229616 within the MC4R gene compared to carriers of the G/A genotype (p = 0.006, p-FDR = 0.030). In the same gene, logistic regression analysis showed that carriers of the minor C/C genotype of the rs17782313 SNP had a significantly higher risk of hypertension (OR = 1.37, p = 0.023, p-FDR = 0.115) in the unadjusted model. However, the significance was attenuated after adjusting for age, gender and BMI (OR = 1.32, p = 0.084, p-FDR = 0.140). Moreover, carriers of the minor T/T genotype of the TCF7L2 rs7903146 SNP had a lower risk of T2D in the crude model (OR = 0.66, p = 0.043, p-FDR = 0.108) and after adjustment for age, gender and BMI (OR = 0.63, p = 0.041, p-FDR = 0.108). These findings remained significant after correction for multiple comparisons.

conclusionTCF7L2-rs7903146 (C/C genotype) and MC4R-17,782,313 (C/C genotype) SNPs are potential genetic risk factors for T2D and hypertension, respectively, in the Black South African population. Replicating these findings and exploring the role played by these genetic variants in downstream molecular pathways could aid in risk stratification and facilitate personalized approaches to healthcare delivery.

Indexed as

AngiotensinogenBlack PeopleDiabetes Mellitus, Type 2Genetic Predisposition to DiseasePeptidyl-Dipeptidase APolymorphism, Single NucleotideReceptor, Melanocortin, Type 4Transcription Factor 7-Like 2 ProteinAdultAgedCross-Sectional StudiesFemaleGenetic Association StudiesHumansHypertensionMaleACE protein, humanAGT protein, humanAngiotensinogenMC4R protein, humanPeptidyl-Dipeptidase AReceptor, Melanocortin, Type 4TCF7L2 protein, humanTranscription Factor 7-Like 2 ProteinAngiotensin Convertase EnzymeDiabetesHypertensionMelanocortin 4 receptorTranscription Factor 7 like 2

Identifiers

PMID42271435
PMCPMC13488011

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.