Gene-diet interactions and cardiovascular diseases: a systematic review of observational and clinical trials.

Roa-Díaz, Zayne M; Teuscher, Julian; Gamba, Magda; Bundo, Marvin; Grisotto, Giorgia; Wehrli, Faina; Gamboa, Edna; Rojas, Lyda Z; Gómez-Ochoa, Sergio A; Verhoog, Sanne; Vargas, Manuel Frias; Minder, Beatrice; Franco, Oscar H; Dehghan, Abbas; Pazoki, Raha; Marques-Vidal, Pedro; Muka, Taulant (2022). Gene-diet interactions and cardiovascular diseases: a systematic review of observational and clinical trials. BMC cardiovascular disorders, 22(1), p. 377. BioMed Central 10.1186/s12872-022-02808-1

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Both genetic background and diet are important determinants of cardiovascular diseases (CVD). Understanding gene-diet interactions could help improve CVD prevention and prognosis. We aimed to summarise the evidence on gene-diet interactions and CVD outcomes systematically.


We searched MEDLINE® via Ovid, Embase, PubMed®, and The Cochrane Library for relevant studies published until June 6th 2022. We considered for inclusion cross-sectional, case-control, prospective cohort, nested case-control, and case-cohort studies as well as randomised controlled trials that evaluated the interaction between genetic variants and/or genetic risk scores and food or diet intake on the risk of related outcomes, including myocardial infarction, coronary heart disease (CHD), stroke and CVD as a composite outcome. The PROSPERO protocol registration code is CRD42019147031.


We included 59 articles based on data from 29 studies; six articles involved multiple studies, and seven did not report details of their source population. The median sample size of the articles was 2562 participants. Of the 59 articles, 21 (35.6%) were qualified as high quality, while the rest were intermediate or poor. Eleven (18.6%) articles adjusted for multiple comparisons, four (7.0%) attempted to replicate the findings, 18 (30.5%) were based on Han-Chinese ethnicity, and 29 (49.2%) did not present Minor Allele Frequency. Fifty different dietary exposures and 52 different genetic factors were investigated, with alcohol intake and ADH1C variants being the most examined. Of 266 investigated diet-gene interaction tests, 50 (18.8%) were statistically significant, including CETP-TaqIB and ADH1C variants, which interacted with alcohol intake on CHD risk. However, interactions effects were significant only in some articles and did not agree on the direction of effects. Moreover, most of the studies that reported significant interactions lacked replication. Overall, the evidence on gene-diet interactions on CVD is limited, and lack correction for multiple testing, replication and sample size consideration.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)
13 Central Units > Administrative Director's Office > University Library of Bern

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Roa Diaz, Zayne Milena, Gamba Rincón, Magda Rocío, Bundo, Marvin, Grisotto, Giorgia, Wehrli, Faina, Gomez Ochoa, Sergio Alejandro, Verhoog, Sanne, Minder, Beatrice, Franco Duran, Oscar Horacio, Muka, Taulant


600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services
000 Computer science, knowledge & systems > 020 Library & information sciences




BioMed Central


[222] Horizon 2020 ; [226] Swiss School of Public Health Global P3HS Stipend




Pubmed Import

Date Deposited:

23 Aug 2022 14:28

Last Modified:

05 Dec 2022 16:23

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

Cardiovascular diseases Coronary heart disease Diet Gene-diet interaction Myocardial infarction Stroke




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