# Prevalence of Ten Gene Variants Involved in Muscular Phenotypes in a Mexican Mestizo Population

**Authors:** Luz Berenice López-Hernández, Guillermina Avila-Ramírez, Ariadna Del Villar-Morales, Mónica Alejandra Anaya-Segura, Luis Angel Montes-Almanza, Froylan Arturo García-Martínez, Antonio Miranda-Duarte, Carlos Antonio Sosa-Flores, Martha Eunice Rodríguez-Arellano, Ileana Chavez-Maisterra, Alexandra Berenice Luna-Angulo, Miriam Pavelth Casillas-Ávila, Benjamín Gómez-Díaz

PMC · DOI: 10.3390/muscles2040030 · Muscles · 2023-12-08

## TL;DR

This study examines the frequency of ten gene variants related to muscle traits and disease risk in a Mexican Mestizo population and compares them to global data.

## Contribution

The study provides new insights into the genetic makeup of Mexican Mestizos related to athletic performance and chronic diseases.

## Key findings

- Genotype frequencies mostly fit Hardy–Weinberg equilibrium except for MSTN rs1805086 and FST rs1423560.
- Significant differences in gene variant frequencies were found compared to 26 populations in the 1000 Genomes Project.
- The findings may help future studies on genetic associations with athletic performance and chronic diseases in Mexicans.

## Abstract

Several reports have provided evidence that there are genetic variants of genes such as MSTN, BDRKB2, ACTN3 and ADRB2 that are involved in a better response to adaptation during resistance or strength training, while other genes such as GRB14, AGT and END1 are reported to be associated with the risk of suffering from some diseases such as diabetes, hypertension or obesity. A cross-sectional study from a Mexican Mestizo population was performed to estimate the frequency of 10 gene variants in 8 genes involved in athletic performance or chronic degenerative diseases, MSTN (rs1805085, rs1805086), BDKRB2 (rs1799722), FST (rs1423560), ACTN3 (rs1815739), ADRB2 (rs1042713, rs1042714), GRB14 (rs8192673), AGT (rs699) and EDN1 (rs5370), and to compare frequencies from 26 populations reported in the Database of 1000 Genomes project. Genotype frequencies fitted the Hardy–Weinberg equilibrium, except for MST rs1805086 and FST rs1423560, and our study revealed significant differences in the distribution of frequencies of some of these gene variants among populations reported in the 1000 Genomes Project. Our findings provide insights regarding the genetic background of our population, and future case–control studies can be carried out with more accurate sample sizes for genetic association studies. Our results may be also useful in recognizing the roles and mechanisms contributing to athletic performance and/or chronic degenerative diseases in Mexicans.

## Linked entities

- **Genes:** MSTN (myostatin) [NCBI Gene 2660], BDKRB2 (bradykinin receptor B2) [NCBI Gene 624], FST (follistatin) [NCBI Gene 10468], ACTN3 (actinin alpha 3) [NCBI Gene 89], ADRB2 (adrenoceptor beta 2) [NCBI Gene 154], GRB14 (growth factor receptor bound protein 14) [NCBI Gene 2888], AGT (angiotensinogen) [NCBI Gene 183], EDN1 (endothelin 1) [NCBI Gene 1906]
- **Diseases:** diabetes (MONDO:0005015), obesity (MONDO:0011122)

## Full-text entities

- **Genes:** TAM (Myeloproliferative syndrome, transient (transient abnormal) [NCBI Gene 8205] {aka MST}, GRB14 (growth factor receptor bound protein 14) [NCBI Gene 2888], AGT (angiotensinogen) [NCBI Gene 183] {aka ANHU, SERPINA8, hFLT1}, MSTN (myostatin) [NCBI Gene 2660] {aka GDF8, MSLHP}, ACTN3 (actinin alpha 3) [NCBI Gene 89] {aka ACTN3D}, VPS11 (VPS11 core subunit of CORVET and HOPS complexes) [NCBI Gene 55823] {aka DYT32, END1, HLD12, HLD12; DYT32, PEP5, RNF108}, ADRB2 (adrenoceptor beta 2) [NCBI Gene 154] {aka ADRB2R, ADRBR, ARB2, B2AR, BAR, BETA2AR}, EDN1 (endothelin 1) [NCBI Gene 1906] {aka ARCND3, ET1, HDLCQ7, PPET1, QME}, BDKRB2 (bradykinin receptor B2) [NCBI Gene 624] {aka B2R, BK-2, BK2, BKR2, BRB2}
- **Diseases:** degenerative diseases (MESH:D019636), diabetes (MESH:D003920), hypertension (MESH:D006973), obesity (MESH:D009765)
- **Mutations:** rs5370, rs1805086, rs8192673, rs1815739, rs1805085, rs1042714, rs1042713, rs699, rs1423560, rs1799722

## Full text

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## References

38 references — full list in the complete paper: https://tomesphere.com/paper/PMC12225391/full.md

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Source: https://tomesphere.com/paper/PMC12225391