# Genome-Wide Association Study Identifies Potential Regulatory Loci and Pathways Related to Buffalo Reproductive Traits

**Authors:** Wangchang Li, Qiyang Xie, Haiying Zheng, Anqin Duan, Liqing Huang, Chao Feng, Jianghua Shang, Chunyan Yang

PMC · DOI: 10.3390/genes16040422 · 2025-03-31

## TL;DR

This study identifies genes and pathways linked to reproductive traits in water buffalo, offering insights for improving breeding efficiency.

## Contribution

The study reports 52 regulatory loci and 58 candidate genes associated with buffalo reproductive traits, including novel gene-pathway associations.

## Key findings

- Identified 52 suggestive regulatory loci linked to reproductive traits in water buffalo.
- Candidate genes like AGBL4, GRM1, NCKAP5, and NRXN1 are enriched in pathways regulating reproduction.
- Findings provide a foundation for breeding programs to enhance buffalo productivity.

## Abstract

Background: The reproductive performance of water buffalo significantly impacts the economic aspects of production. Traditional breeding methods are constrained by low heritability and numerous influencing factors, making it difficult to effectively improve reproductive efficiency. Genome-wide association studies (GWAS) offer new possibilities for exploring reproductive traits in water buffalo, opening up new avenues for efficient breeding. Methods: Using whole-genome resequencing, we identified quantitative trait loci (QTLs) associated with four suggestive reproductive traits: calving interval (CI), calf birth weight (CBW), dam birth weight (BW), and age at first calving (FCA). The study focused on identifying genetic variants that influence these reproductive traits. Results: Our research identified 52 suggestive regulatory loci associated with reproductive traits in water buffalo. Based on a 50 kb interval, we annotated these loci to 58 candidate genes. These loci involve genes such as AGBL4, GRM1, NCKAP5, and NRXN1, which are primarily enriched in pathways including the FOXO signaling pathway, calcium ion pathways, estrogen signaling pathway, and phospholipase D signaling pathway. These pathways directly or indirectly regulate the reproductive efficiency of water buffalo. Conclusions: This study has revealed suggestive regulatory genes (AGBL4, GRM1, NCKAP5, NRXN1) associated with reproductive traits in water buffalo. This not only enhances our understanding of the molecular mechanisms underlying complex traits but also points towards strategies for improving the reproductive capacity of water buffalo. These findings provide a solid foundation for future breeding programs aimed at enhancing water buffalo productivity.

## Linked entities

- **Genes:** AGBL4 (AGBL carboxypeptidase 4) [NCBI Gene 84871], GRM1 (glutamate metabotropic receptor 1) [NCBI Gene 2911], NCKAP5 (NCK associated protein 5) [NCBI Gene 344148], NRXN1 (neurexin 1) [NCBI Gene 9378]
- **Species:** Bubalus bubalis (taxon 89462)

## Full-text entities

- **Genes:** NCKAP5 [NCBI Gene 102403327], AGBL4 [NCBI Gene 102392503], NRXN1 [NCBI Gene 102389440]
- **Chemicals:** calcium (MESH:D002118)
- **Species:** Bubalus bubalis (domestic water buffalo, species) [taxon 89462]

## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12026540/full.md

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Source: https://tomesphere.com/paper/PMC12026540