Examining genotype-phenotype associations of GRAM domain proteins using GWAS, PheWAS and literature review in cattle, human, pig, mouse and chicken

Kunej, Tanja (avtor), Šimon, Martin (avtor), Luštrek, Barbara (avtor), Horvat, Simon (avtor), Potočnik, Klemen (avtor)

The GRAMD genes are involved in maintaining cholesterol homeostasis, apoptosis, cancer and production traits in livestock. A lipid-binding GRAM domain is implicated in lipid transport and metabolism. The functions of GRAMD proteins remain incompletely understood. The aim of the present study was therefore to investigate the associations between six GRAMD genes in cattle using data from the international genomic evaluation of the Interbull InterGenomics Centre and to evaluate genotype-phenotype associations in human, cattle, pig, mouse and, chicken. Genotyping of 55,013 bulls was performed using DNA microarrays and 11 SNPs were mapped to the five GRAMD genes. A phenome-wide association study (PheWAS) tested associations between the 11 SNPs and 36 traits. The integrated analysis of SNP effects, rankings, and clustering patterns revealed their potential for improving cattle productivity, health, and robustness, and established a baseline for the targeted improvement of cattle traits. This study lays the groundwork for functional experiments aimed at uncovering the mechanism of action of GRAMD genes and to evaluate the potential of using GRAMD sequence variants for selection programs in dairy cattle. The study presents an example of how the combination of GWAS and the PheWAS offers a promising toolbox for the systematic functional annotation of vertebrate genomes.

• Jezik: Angleški jezik
• Ključne besede: cattle, GRAM domain, GWAS, PheWAS, single nucleotide polymorphism (SNP), mouse
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: BF - Biotehniška fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2024
• Št. strani: 17 str.
• Številčenje: Vol. 14, art. 28889
• PID: 20.500.12556/RUL-165404
• UDK: 575
• ISSN pri članku: 2045-2322
• DOI: 10.1038/s41598-024-80117-7
• COBISS.SI-ID: 216061955
• Datum objave v RUL: 05.12.2024

KUNEJ, Tanja, ŠIMON, Martin, LUŠTREK, Barbara, HORVAT, Simon in POTOČNIK, Klemen, 2024, Examining genotype-phenotype associations of GRAM domain proteins using GWAS, PheWAS and literature review in cattle, human, pig, mouse and chicken. Scientific reports [na spletu]. 2024. Vol. 14, no. 28889. [Dostopano 26 april 2025]. DOI 10.1038/s41598-024-80117-7. Pridobljeno s: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=slv&id=165404

Gradivo je del revije

• Naslov: Scientific reports
• Skrajšan naslov: Sci. rep.
• Založnik: Springer Nature
• ISSN: 2045-2322
• COBISS.SI-ID: 18727432

Licence

• Licenca: CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
• Opis: Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: genetika, geni, GRAMD, genotip, fenotip

Projekti

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: P4-0092
• Naslov: Zdravje živali, okolje in varna hrana

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: P4-0220
• Naslov: Primerjalna genomika in genomska biodiverziteta