The ACTN3 R577X polymorphism is associated with metabolic alterations in a sex‐dependent manner in subjects from western Mexico

Abstract

Background The ACTN3 gene is primarily expressed in fast skeletal muscle fibres. A common nonsense polymorphism in this gene is ACTN3 R577X (rs1815739), which causes an absolute deficiency of α‐actinin‐3 protein and alterations in muscle metabolism. Considering metabolic alterations are influenced by nutrition and genetic factors, as well as lifestyle factors, we hypothesise a possible association of the ACTN3 R577X polymorphism with metabolic alterations. Methods In this cross‐sectional study, 397 adults met the inclusion criteria. Body composition was measured by electrical bioimpedance. Dietary data were analysed using Nutritionist Pro™ software. Biochemical variables were determined by dry chemistry. Genomic DNA was extracted from peripheral leukocytes and genotyping of the ACTN3 R577X polymorphism was determined by allelic discrimination using TaqMan probes. The statistical analyses were performed using SPSS statistical software. p < 0.05 was considered statistically significant. Results The ACTN3 577XX genotype was associated with high glucose, triglyceride and very low density lipoprotein‐cholesterol levels and a higher frequency of hypertriglyceridaemia and insulin resistance in women. In males, the genetic variant showed a trend towards significance for insulin resistance. Conclusions The ACTN3 R577X polymorphism was associated with metabolic alterations in women and a tendency was observed in men variant carriers. Thus, this common genetic variant could be implicated in the development of chronic metabolic diseases.

Gene–environment interactions in human health

“…This brief editorial provides just a snapshot of some of the key insights into gene-environment interactions and relationships with health outcomes presented in the 12 original articles that follow. [1][2][3][4][5][6][7][8][9][10][11][12] The results and discussion presented herein highlight the important role of diet (and potentially other environmental factors) with respect to gene expression and ultimately an individual's health status. A better understanding of gene-environment interactions and the biological pathways that underpin these relationships will help identify diet or metabolic targets for interventions aimed at maintaining or improving health throughout the lifecycle.…”

“…This special issue of the Journal of Human Nutrition and Dietetics comprises a compilation of 12 original research articles that focus on associations between genes and environment as well as gene-environment interactions in human health, with a particular emphasis on diet, body composition and metabolic health. [1][2][3][4][5][6][7][8][9][10][11][12] Human gene-environment associations and interactions can be investigated using a range of study designs, including the classic twin study, which collects data from monozygotic and dizygotic twin pairs and typically uses some form of structural equation modelling to estimate the proportion of variation in a trait explained by genes, shared environment and unique environment. 13 Other study designs include the traditional candidate-gene study, which examines associations between genes and environmental exposures, usually where there is a known link between the gene and the exposure, or the more complex genome-wide association study, which usually assumes no prior hypothesis and examines the entire genome for interactions with various environmental exposures.…”

“…This brief editorial provides just a snapshot of some of the key insights into gene–environment interactions and relationships with health outcomes presented in the 12 original articles that follow 1–12 . The results and discussion presented herein highlight the important role of diet (and potentially other environmental factors) with respect to gene expression and ultimately an individual's health status.…”

“…Diet is one of the key aspects of the environment that impacts health along with others such as lifestyle, physical activity and the gut microbiome. This special issue of the Journal of Human Nutrition and Dietetics comprises a compilation of 12 original research articles that focus on associations between genes and environment as well as gene–environment interactions in human health, with a particular emphasis on diet, body composition and metabolic health 1–12 …”

Reflections on a decade as Editor

“…We are active on social media and have introduced visual abstracts, with some authors taking the opportunity to publish an audio or vide presentation to accompany their published paper. As a journal, we have also recognised the changing nature of our discipline as technology plays a greater role in both nutrition research and clinical practice 2,3 and have responded to global events such as the Covid-19 pandemic. [4][5][6][7] If I were asked to pick out some highlights of my 10 years as Editor, I would suggest:…”