Abstract: The back plays a vital role in horse locomotion, where the spine functions as a spring during the stride cycle. A complex interaction between the spine and the muscles of the back contribute to locomotion soundness, gait ability, and performance of riding and racehorses. Conformation is commonly used to select horses for breeding and performance in multiple horse breeds, where the back and croup conformation plays a significant role. The conformation of back and croup plays an important role on riding ability in Icelandic horses. However, the genes behind this trait are still unknown. Therefore, the aim of this study was to identify genomic regions associated with conformation of back and croup in Icelandic horses and to investigate their effects on riding ability. One hundred seventy-seven assessed Icelandic horses were included in the study. A genome-wide association analysis was performed using the 670 K+ Axiom Equine Genotyping Array, and the effects of different haplotypes in the top associated region were estimated for riding ability and additional conformation traits assessed during breeding field tests. Results: A suggestive quantitative trait loci (QTL) for the score of back and croup was detected on Equus caballus (ECA) 22 (p-value = 2.67 × 10- 7). Haplotype analysis revealed two opposite haplotypes, which resulted in higher and lower scores of the back and croup, respectively (p-value < 0.001). Horses with the favorable haplotype were more inclined to have a well-balanced backline with an uphill conformation and had, on average, higher scores for the lateral gaits tölt (p-value = 0.02) and pace (p-value = 0.004). This genomic region harbors three genes: C20orf85, ANKRD60 and LOC100056167. ANKRD60 is associated with body height in humans. C20orf85 and ANKRD60 are potentially linked to adolescent idiopathic scoliosis in humans. Conclusions: Our results show that the detected QTL for conformation of back and croup is of importance for quality of lateral gaits in Icelandic horses. These findings could result in a genetic test to aid in the selection of breeding horses, thus they are of major interest for horse breeders. The results may also offer a gateway to comparative functional genomics by potentially linking both motor laterality and back inclination in horses with scoliosis in humans.
The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.
The research study identifies a gene region influencing the back and croup conformation in Icelandic horses, which in turn affects their gait quality. Further study into this gene region can potentially provide an avenue for genetic testing for horse breeding, apart from possibly contributing to an understanding of scoliosis in humans.
Objective of the Study
The research aimed at identifying the specific genomic regions associated with the conformation of the back and croup – the back and hindquarters of a horse – in Icelandic horses.
The purpose was to explore the potential impact of these identified genes on the horses’ riding ability.
Methodology
The study included 177 assessed Icelandic horses.
Genome-wide association analysis was undertaken using a genome mapping tool referred to as the Axiom Equine Genotyping Array.
Different haplotypes – groupings of specific genes inherited together – in regions associated with the back and croup conformation were further analyzed for their effects on riding ability and other traits.
Results
The research identified a suggestive quantitative trait loci (QTL) – a section of DNA which correlates with variation in a trait – influencing back and croup score.
Two contrasting haplotypes were discovered which affected the score of back and croup. Horses with the favorable haplotype had a good balance and had a higher score for the lateral gaits – tölt and pace.
The genomic region where the QTL was found houses three genes: C20orf85, ANKRD60 and LOC100056167. Interestingly, the ANKRD60 gene is associated with body height in humans while C20orf85 and ANKRD60 have been linked to adolescent idiopathic scoliosis (an abnormal curvature of the spine) in humans.
Conclusions and Implications
The study demonstrates that the identified QTL for conformation of back and croup has significant influence on the quality of lateral gaits in Icelandic horses.
These findings could potentially lay the groundwork for a genetic test which can assist in the selection of breeding horses, making them of substantial relevance for horse breeders.
The results also indicate a possibility for comparative functional genomics studies in relation to scoliosis in humans.
Cite This Article
APA
Rosengren MK, Sigurðardóttir H, Eriksson S, Naboulsi R, Jouni A, Novoa-Bravo M, Albertsdóttir E, Kristjánsson Þ, Rhodin M, Viklund Å, Velie BD, Negro JJ, Solé M, Lindgren G.
(2021).
A QTL for conformation of back and croup influences lateral gait quality in Icelandic horses.
BMC Genomics, 22(1), 267.
https://doi.org/10.1186/s12864-021-07454-z
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden. maria.rosengren@slu.se.
Sigurðardóttir, Heiðrún
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
The Agricultural University of Iceland, Borgarnes, Iceland.
Eriksson, Susanne
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Naboulsi, Rakan
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Jouni, Ahmad
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Novoa-Bravo, Miguel
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Genética Animal de Colombia Ltda, Bogotá, Colombia.
Albertsdóttir, Elsa
The Icelandic Agricultural Advisory Centre, Reykjavík, Iceland.
Kristjánsson, Þorvaldur
The Agricultural University of Iceland, Borgarnes, Iceland.
Rhodin, Marie
Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Viklund, Åsa
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Velie, Brandon D
School of Life & Environmental Sciences, University of Sydney, Sydney, Australia.
Negro, Juan J
Department of Evolutionary Ecology, Doñana Biological Station, CSIC, Seville, Spain.
Solé, Marina
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Lindgren, Gabriella
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Livestock Genetics, Department of Biosystems, KU Leuven, Leuven, Belgium.
MeSH Terms
Animals
Gait / genetics
Genome-Wide Association Study
Horses / genetics
Phenotype
Quantitative Trait Loci
Conflict of Interest Statement
The authors declare competing interest concerning commercial applications of the current study. GL is a co-inventor on a patent application concerning commercial testing of the DMRT3 mutation. The stated patents does not restrict research applications of the method.
References
This article includes 76 references
Albertsdóttir E, Eriksson S, Näsholm A, Strandberg E, Árnason T. Genetic correlations between competition traits and traits scored at breeding field-tests in Icelandic horses.. Livest Sci 2008;114(2–3):181–187.
Solé M, Gómez MD, Galisteo AM, Santos R, Valera M. Kinematic characterization of the Menorca horse at the walk and the trot: influence of hind limb pastern angle.. J Equine Vet Sci 2013;33(9):726–732.
Kristjansson T, Bjornsdottir S, Albertsdóttir E, Sigurdsson A, Pourcelot P, Crevier-Denoix N. Association of conformation and riding ability in Icelandic horses.. Livest Sci 2016;189:91–101.
Holmström M, Back W. Equine Locomotion. 2.. London: WB Saunders; 2013. The effects of conformation; pp. 229–243.
Janczarek I, Wilk I, Strzelec K. Correlations between body dimensions of young trotters and motion parameters and racing performance.. Pferdeheilkunde 2017;33(2):139–145.
Sánchez-Guerrero MJ, Molina A, Gómez MD, Peña F, Valera M. Relationship between morphology and performance: signature of mass-selection in Pura Raza Español horse.. Livest Sci 2016;185:148–155.
Jönsson L, Näsholm A, Roepstorff L, Egenvall A, Dalin G, Philipsson J. Conformation traits and their genetic and phenotypic associations with health status in young Swedish warmblood riding horses.. Livest Sci 2014;163(1):12–25.
Koenen EPC, Van Veldhuizenb AE, Brascamp EW. Genetic parameters of linear scored conformation traits and their relation to dressage and show-jumping performance in the Dutch Warmblood Riding Horse population.. Livest Sci 1995;43:85–94.
. FEIF General Rules and Regulations.. Available from: https://www.feiffengur.com/documents/FEIF_Rules_Regulations2020_complete.pdf [cited 2020 Aug 6].
Albertsdóttir E, Eriksson S, Sigurdsson Á, Árnason T. Genetic analysis of “breeding field test status” in Icelandic horses.. J Anim Breed Genet 2011;128(2):124–132.
Weedon MN, Lango H, Lindgren CM, Wallace C, David M, Mangino M. Genome-wide association analysis identifies 20 loci that influence adult height.. Nat Genet 2008;40(5):575–83.
Bouwman AC, Daetwyler HD, Chamberlain AJ, Ponce CH, Sargolzaei M, Schenkel FS. Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals.. Nat Genet 2018;50(3):362–367.
Mostafavi A, Asadi Fozi M, Esmailizadeh Koshkooieh A, Mohammadabadi M, Ivanivna Babenko O, Ihorivna Klopenko N. Effect of LCORL gene polymorphism on body size traits in horse populations.. Acta Sci Anim Sci 2020;42.
Posbergh CJ, Huson HJ. All sheeps and sizes: a genetic investigation of mature body size across sheep breeds reveals a polygenic nature.. Anim Genet 2020;52:99–107.
Promerová M, Andersson LS, Juras R, Penedo MCT, Reissmann M, Tozaki T. Worldwide frequency distribution of the ‘ Gait keeper ’ mutation in the DMRT3 gene.. Anim Genet 2014;45(2):274–282.
. Horse QTL Database.. Available from: https://www.animalgenome.org/cgi-bin/QTLdb/EC/index. [cited 2020 Aug 6].
Jönsson L. Orthopaedic health, conformation and longevity in riding horses.. Doctoral thesis. SLU. 2013.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.. Hum Genet 2018;137(6–7):553–567.
Martínez-Llorens J, Ramírez M, Colomina MJ, Bagó J, Molina A, Cáceres E. Muscle dysfunction and exercise limitation in adolescent idiopathic scoliosis.. Eur Respir J 2010;36:393–400.
Grivas T, Mihas K, Vasiliadis E, Maziotou C, Karathanou S, Polyzois V. Handedness and laterality of trunk Rotation in children screened for scoliosis.. Proceedings of the International Research Society of Spinal Deformities conference 2004 June 10-12; Biennial Meeting. 2004:64–7.
de Yang Z, Li M. There may be a same mechanism of the left-right handedness and left-right convex curve pattern of adolescent idiopathic scoliosis.. Med Hypotheses 2011;76(2):274–276.
Catanzariti JF, Guyot MA, Agnani O, Demaille S, Kolanowski E, Donze C. Eye-hand laterality and right thoracic idiopathic scoliosis.. Eur Spine J 2014;23(6):1232–1236.
Al Abri MA, Posbergh C, Palermo K, Sutter NB, Eberth J, Hoffman GE. Genome-Wide Scans Reveal a Quantitative Trait Locus for Withers Height in Horses Near the ANKRD1 Gene.. J Equine Vet Sci 2018;60:67–73.
. Basic Local Alignment Search Tool.. Available from: https://blast.ncbi.nlm.nih.gov/Blast.cgi. [cited 2020 Aug 7].
Gaudet P, Livstone MS, Lewis SE, Thomas PD. Phylogenetic-based propagation of functional annotations within the gene ontology consortium.. Brief Bioinform 2011;12(5):449–462.
Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K. Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits.. Am J Hum Genet 2017;100(6):865–884.
Sparrow LM, Pellatt E, Yu SS, Raichlen DA, Pontzer H, Rolian C. Gait changes in a line of mice artificially selected for longer limbs.. PeerJ 2017;2017(2):e3008.
. General Information on Breeding Field Tests – Measurements (body measures).. Available from: https://www.rml.is/static/files/Hrossaraekt_RML/skrokkmal.pdf. [cited 2020 Aug 6].
Aulchenko YS, Ripke S, Isaacs A, van Duijn CM. GenABEL: an R library for genome-wide association analysis.. Bioinformatics 2007;23(10):1294–1296.
Duggal P, Gillanders EM, Holmes TN, Bailey-Wilson JE. Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies.. BMC Genomics 2008;9:1–8.
Kierczak M, Jabłońska J, Forsberg SKG, Bianchi M, Tengvall K. cgmisc: enhanced genome-wide association analyses and visualization.. Bioinformatics 2015;31:3830–1.
. National Center for Biotechnology Information.. Available from: https://www.ncbi.nlm.nih.gov/. [cited 2020 Aug 6].
Stelzer G, Rosen R, Plaschkes I, Zimmerman S, Twik M, Fishilevich S. The GeneCards suite: from gene data mining to disease genome sequence analyses.. Current Protocols in Bioinformatics 2016;54:1.30.1–1.30.33.
Tu Y, Xu S, Liu Y, Zhang M, Ma J, Ju X, Shan Y, Ji G, Shu J. Identification of molecular markers associated with comb traits through genome-wide association study on a specialized strain of yellow feathered broilers. Poult Sci 2026 Jan;105(1):106125.