FREE SHIPPING over $40
OVER 9000 FIVE-STAR REVIEWS
5% OFF ALL SUBSCRIPTIONS
100% HAPPINESS GUARANTEE
Analyze Diet
0
Home / Equine Research Bank / PLoS One / A chromosomal region on ECA13 is associated with maxillary p...
PloS one2014; 9(1); e86607; doi: 10.1371/journal.pone.0086607

A chromosomal region on ECA13 is associated with maxillary prognathism in horses.

Abstract: Hereditary variations in head morphology and head malformations are known in many species. The most common variation encountered in horses is maxillary prognathism. Prognathism and brachygnathism are syndromes of the upper and lower jaw, respectively. The resulting malocclusion can negatively affect teeth wear, and is considered a non-desirable trait in breeding programs. We performed a case-control analysis for maxillary prognathism in horses using 96 cases and 763 controls. All horses had been previously genotyped with a commercially available 50 k SNP array. We analyzed the data with a mixed-model considering the genomic relationships in order to account for population stratification. Two SNPs within a region on the distal end of chromosome ECA 13 reached the Bonferroni corrected genome-wide significance level. There is no known prognathism candidate gene located within this region. Therefore, our findings in the horse offer the possibility of identifying a novel gene involved in the complex genetics of prognathism that might also be relevant for humans and other livestock species.
Get Full Text
Publication Date: 2014-01-21 PubMed ID: 24466169PubMed Central: PMC3897735DOI: 10.1371/journal.pone.0086607Google Scholar: Lookup
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.
LinkedInCopy
  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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 examines the link between a specific chromosome region in horses (ECA13) and a common dental trait known as maxillary prognathism. By studying the genetics of 96 horses with the trait and comparing them to 763 others, two significant predictive gene markers were found on the ECA13 region. This could hint at a previously unidentified gene responsible for prognathism, which might have implications beyond horses to humans and other species.

Objective of the Research

  • The primary goal of this research was to understand the genetic basis of maxillary prognathism, a prevalent dental trait in horses that causes the upper jaw to extend beyond the lower one, leading to malocclusion, unfavorable teeth wear, and unattractiveness for breeding programs. The researchers aimed to identify potential genetic markers tied to this trait.

Study Design and Participants

  • The study made use of a case-control design, involving 96 instances of horses with maxillary prognathism (cases), and 763 horses without this trait (controls).
  • All participating horses had previously undergone genotyping using a commercially available 50k (50,000) Single Nucleotide Polymorphism (SNP) array. This array provides a snapshot detailing variations in horses’ DNA.

Data Analysis and Results

  • To take into account potential errors due to population stratification (differences in allele frequencies that can lead to spurious results), a mixed model considering genomic relationships was used to analyze the data.
  • Analysis led to the identification of two significant SNPs located at the distal end (far end from the center) of the ECA13 chromosome. These SNPs reached the required statistical significance level even after applying stringent Bonferroni correction (a method to compensate for multiple comparisons).

Implications and Future Work

  • Interestingly, there wasn’t any previously recognized gene associated with prognathism in this specific ECA13 region. This finding opens up the possibility that a yet unknown gene located here may be involved in the development of prognathism.
  • Expanded understanding of the genetic underpinnings of prognathism in horses could potentially be relevant to other livestock species, or even humans, thereby offering potential in the broader field of genetics, veterinary science, dentistry, and breeding practices.

Cite This Article

APA
Signer-Hasler H, Neuditschko M, Koch C, Froidevaux S, Flury C, Burger D, Leeb T, Rieder S. (2014). A chromosomal region on ECA13 is associated with maxillary prognathism in horses. PLoS One, 9(1), e86607. https://doi.org/10.1371/journal.pone.0086607

Publication

PloS one
ISSN: 1932-6203
NlmUniqueID: 101285081
Country: United States
Language: English
Volume: 9
Issue: 1
Pages: e86607
PII: e86607

Researcher Affiliations

Signer-Hasler, Heidi
  • School of Agricultural, Forest and Food Sciences, Bern University of Applied Sciences, Zollikofen, Switzerland.
Neuditschko, Markus
  • Swiss National Stud Farm, Agroscope, Avenches, Switzerland.
Koch, Christoph
  • Swiss Institute of Equine Medicine ISME, Vetsuisse Faculty University of Bern and Agroscope, Bern, Switzerland.
Froidevaux, Sylvie
  • Swiss Institute of Equine Medicine ISME, Vetsuisse Faculty University of Bern and Agroscope, Bern, Switzerland.
Flury, Christine
  • School of Agricultural, Forest and Food Sciences, Bern University of Applied Sciences, Zollikofen, Switzerland.
Burger, Dominik
  • Swiss Institute of Equine Medicine ISME, Vetsuisse Faculty University of Bern and Agroscope, Bern, Switzerland.
Leeb, Tosso
  • Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Rieder, Stefan
  • Swiss National Stud Farm, Agroscope, Avenches, Switzerland.

MeSH Terms

  • Animals
  • Breeding
  • Case-Control Studies
  • Chromosomes / genetics
  • Genome-Wide Association Study
  • Genotype
  • Horse Diseases / genetics
  • Horses
  • Maxillary Diseases / genetics
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics
  • Prognathism / genetics

Conflict of Interest Statement

The authors have declared that no competing interests exist.

References

This article includes 33 references
  1. Wade CM, Giulotto E, Sigurdsson S, Zoli M, Gnerre S, Imsland F, Lear TL, Adelson DL, Bailey E, Bellone RR, Blöcker H, Distl O, Edgar RC, Garber M, Leeb T, Mauceli E, MacLeod JN, Penedo MC, Raison JM, Sharpe T, Vogel J, Andersson L, Antczak DF, Biagi T, Binns MM, Chowdhary BP, Coleman SJ, Della Valle G, Fryc S, Guérin G, Hasegawa T, Hill EW, Jurka J, Kiialainen A, Lindgren G, Liu J, Magnani E, Mickelson JR, Murray J, Nergadze SG, Onofrio R, Pedroni S, Piras MF, Raudsepp T, Rocchi M, Røed KH, Ryder OA, Searle S, Skow L, Swinburne JE, Syvänen AC, Tozaki T, Valberg SJ, Vaudin M, White JR, Zody MC, Lander ES, Lindblad-Toh K. Genome sequence, comparative analysis, and population genetics of the domestic horse.. Science 2009 Nov 6;326(5954):865-7.
    pmc: PMC3785132pubmed: 19892987doi: 10.1126/science.1178158google scholar: lookup
  2. McCue ME, Bannasch DL, Petersen JL, Gurr J, Bailey E, Binns MM, Distl O, Guérin G, Hasegawa T, Hill EW, Leeb T, Lindgren G, Penedo MC, Røed KH, Ryder OA, Swinburne JE, Tozaki T, Valberg SJ, Vaudin M, Lindblad-Toh K, Wade CM, Mickelson JR. A high density SNP array for the domestic horse and extant Perissodactyla: utility for association mapping, genetic diversity, and phylogeny studies.. PLoS Genet 2012 Jan;8(1):e1002451.
    pmc: PMC3257288pubmed: 22253606doi: 10.1371/journal.pgen.1002451google scholar: lookup
  3. Petersen JL, Mickelson JR, Rendahl AK, Valberg SJ, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A, Capomaccio S, Cappelli K, Cothran EG, Distl O, Fox-Clipsham L, Graves KT, Guérin G, Haase B, Hasegawa T, Hemmann K, Hill EW, Leeb T, Lindgren G, Lohi H, Lopes MS, McGivney BA, Mikko S, Orr N, Penedo MC, Piercy RJ, Raekallio M, Rieder S, Røed KH, Swinburne J, Tozaki T, Vaudin M, Wade CM, McCue ME. Genome-wide analysis reveals selection for important traits in domestic horse breeds.. PLoS Genet 2013;9(1):e1003211.
    pmc: PMC3547851pubmed: 23349635doi: 10.1371/journal.pgen.1003211google scholar: lookup
  4. Rieder S. Molecular tests for coat colours in horses.. J Anim Breed Genet 2009 Dec;126(6):415-24.
    pubmed: 19912415doi: 10.1111/j.1439-0388.2009.00832.xgoogle scholar: lookup
  5. Bellone RR. Pleiotropic effects of pigmentation genes in horses.. Anim Genet 2010 Dec;41 Suppl 2:100-10.
    pubmed: 21070283doi: 10.1111/j.1365-2052.2010.02116.xgoogle scholar: lookup
  6. Andersson LS, Larhammar M, Memic F, Wootz H, Schwochow D, Rubin CJ, Patra K, Arnason T, Wellbring L, Hjälm G, Imsland F, Petersen JL, McCue ME, Mickelson JR, Cothran G, Ahituv N, Roepstorff L, Mikko S, Vallstedt A, Lindgren G, Andersson L, Kullander K. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.. Nature 2012 Aug 30;488(7413):642-6.
    pmc: PMC3523687pubmed: 22932389doi: 10.1038/nature11399google scholar: lookup
  7. Binns MM, Boehler DA, Lambert DH. Identification of the myostatin locus (MSTN) as having a major effect on optimum racing distance in the Thoroughbred horse in the USA.. Anim Genet 2010 Dec;41 Suppl 2:154-8.
    pubmed: 21070290doi: 10.1111/j.1365-2052.2010.02126.xgoogle scholar: lookup
  8. Hill EW, McGivney BA, Gu J, Whiston R, Machugh DE. A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses.. BMC Genomics 2010 Oct 11;11:552.
    pmc: PMC3091701pubmed: 20932346doi: 10.1186/1471-2164-11-552google scholar: lookup
  9. Tozaki T, Hill EW, Hirota K, Kakoi H, Gawahara H, Miyake T, Sugita S, Hasegawa T, Ishida N, Nakano Y, Kurosawa M. A cohort study of racing performance in Japanese Thoroughbred racehorses using genome information on ECA18.. Anim Genet 2012 Feb;43(1):42-52.
    pubmed: 22221024doi: 10.1111/j.1365-2052.2011.02201.xgoogle scholar: lookup
  10. Signer-Hasler H, Flury C, Haase B, Burger D, Simianer H, Leeb T, Rieder S. A genome-wide association study reveals loci influencing height and other conformation traits in horses.. PLoS One 2012;7(5):e37282.
    pmc: PMC3353922pubmed: 22615965doi: 10.1371/journal.pone.0037282google scholar: lookup
  11. Makvandi-Nejad S, Hoffman GE, Allen JJ, Chu E, Gu E, Chandler AM, Loredo AI, Bellone RR, Mezey JG, Brooks SA, Sutter NB. Four loci explain 83% of size variation in the horse.. PLoS One 2012;7(7):e39929.
    pmc: PMC3394777pubmed: 22808074doi: 10.1371/journal.pone.0039929google scholar: lookup
  12. Tetens J, Widmann P, Kühn C, Thaller G. A genome-wide association study indicates LCORL/NCAPG as a candidate locus for withers height in German Warmblood horses.. Anim Genet 2013 Aug;44(4):467-71.
    pubmed: 23418885doi: 10.1111/age.12031google scholar: lookup
  13. Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer.. Equine Vet J 2010 Oct;42(7):658-70.
    pmc: PMC3297474pubmed: 20840582doi: 10.1111/j.2042-3306.2010.00166.xgoogle scholar: lookup
  14. Bettley CD, Cardwell JM, Collins LM, Asher L. A review of scientific literature on inherited disorders in domestic horse breeds.. Anim Welfare 21: 59–64.
  15. Petersen JL, Mickelson JR, Cothran EG, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A, Distl O, Felicetti M, Fox-Clipsham L, Graves KT, Guérin G, Haase B, Hasegawa T, Hemmann K, Hill EW, Leeb T, Lindgren G, Lohi H, Lopes MS, McGivney BA, Mikko S, Orr N, Penedo MC, Piercy RJ, Raekallio M, Rieder S, Røed KH, Silvestrelli M, Swinburne J, Tozaki T, Vaudin M, M Wade C, McCue ME. Genetic diversity in the modern horse illustrated from genome-wide SNP data.. PLoS One 2013;8(1):e54997.
    pmc: PMC3559798pubmed: 23383025doi: 10.1371/journal.pone.0054997google scholar: lookup
  16. Habier D. More than a third of the WCGALP presentations on genomic selection.. J Anim Breed Genet 2010 Oct;127(5):336-7.
    pubmed: 20831555doi: 10.1111/j.1439-0388.2010.00897.xgoogle scholar: lookup
  17. Hayes BJ, Bowman PJ, Chamberlain AJ, Goddard ME. Invited review: Genomic selection in dairy cattle: progress and challenges.. J Dairy Sci 2009 Feb;92(2):433-43.
    pubmed: 19164653doi: 10.3168/jds.2008-1646google scholar: lookup
  18. Hayes BJ, Pryce J, Chamberlain AJ, Bowman PJ, Goddard ME. Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits.. PLoS Genet 2010 Sep 23;6(9):e1001139.
    pmc: PMC2944788pubmed: 20927186doi: 10.1371/journal.pgen.1001139google scholar: lookup
  19. Dixon PM, Gerard MP. Oral Cavity and Salvary Glands.. In: Auer JA, Stick JA, editors. Equine Surgery. 4th edition. St. Louis Missouri: Elsevier Saunders. pp.339–366.
  20. Mele M, Gerber V, Straub R, Gaillard C, Jallon L, Burger D. [Prevalence of hereditary diseases in three-year-old horses of the Freiberger breed].. Schweiz Arch Tierheilkd 2007 Apr;149(4):151-9.
    pubmed: 17461390doi: 10.1024/0036-7281.149.4.151google scholar: lookup
  21. Studer S, Gerber V, Straub R, Brehm W, Gaillard C, Lüth A, Burger D. [Prevalence of hereditary diseases in three-year-old Swiss Warmblood horses].. Schweiz Arch Tierheilkd 2007 Apr;149(4):161-71.
    pubmed: 17461391doi: 10.1024/0036-7281.149.4.161google scholar: lookup
  22. Easley J, Schumacher J. Basic equine orthodontics and maxillofacial surgery.. In: Easley J, Dixon PM, Schumacher J, editors. Equine Dentistry. 3rd edition. Elsevier Saunders. p.293.
  23. Jang JY, Park EK, Ryoo HM, Shin HI, Kim TH, Jang JS, Park HS, Choi JY, Kwon TG. Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans.. J Dent Res 2010 Nov;89(11):1203-7.
    pubmed: 20739701doi: 10.1177/0022034510375962google scholar: lookup
  24. Rodrigues JB, Araújo S, Guedes-Pinto H, San Roman F, Viegas C, Bastos E. Analysis of new Matrilin-1 gene variants in a case-control study related to dental malocclusions in Equus asinus.. Gene 2013 Jun 10;522(1):70-4.
    pubmed: 23558247doi: 10.1016/j.gene.2013.03.084google scholar: lookup
  25. Hasler H, Flury C, Menet S, Haase B, Leeb T, Simianer H, Poncet PA, Rieder S. Genetic diversity in an indigenous horse breed: implications for mating strategies and the control of future inbreeding.. J Anim Breed Genet 2011 Oct;128(5):394-406.
    pubmed: 21906185doi: 10.1111/j.1439-0388.2011.00932.xgoogle scholar: lookup
  26. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses.. Am J Hum Genet 2007 Sep;81(3):559-75.
    pmc: PMC1950838pubmed: 17701901doi: 10.1086/519795google scholar: lookup
  27. Li Q, Zhang F, Li X, Chen F. Genome scan for locus involved in mandibular prognathism in pedigrees from China.. PLoS One 2010 Sep 10;5(9).
    pmc: PMC2937026pubmed: 20844756doi: 10.1371/journal.pone.0012678google scholar: lookup
  28. Cruz RM, Krieger H, Ferreira R, Mah J, Hartsfield J Jr, Oliveira S. Major gene and multifactorial inheritance of mandibular prognathism.. Am J Med Genet A 2008 Jan 1;146A(1):71-7.
    pubmed: 18074368doi: 10.1002/ajmg.a.32062google scholar: lookup
  29. Li Q, Li X, Zhang F, Chen F. The identification of a novel locus for mandibular prognathism in the Han Chinese population.. J Dent Res 2011 Jan;90(1):53-7.
    pubmed: 21041550doi: 10.1177/0022034510382546google scholar: lookup
  30. Sargolzaei M, Iwaisaki H, Colleau JJ. CFC: a tool for monitoring genetic diversity.. Proc. 8th World Congr. Genet. Appl. Livest. Prod., CD-ROM Communication no 27–28 Belo Horizonte, Brazil, Aug. 13–18, 2006.
  31. Aulchenko YS, Ripke S, Isaacs A, van Duijn CM. GenABEL: an R library for genome-wide association analysis.. Bioinformatics 2007 May 15;23(10):1294-6.
    pubmed: 17384015doi: 10.1093/bioinformatics/btm108google scholar: lookup
  32. Storey JD. A direct approach to false discovery rates.. J R Stat Soc Series B 64: 479–498.
  33. Kang HM, Sul JH, Service SK, Zaitlen NA, Kong SY, Freimer NB, Sabatti C, Eskin E. Variance component model to account for sample structure in genome-wide association studies.. Nat Genet 2010 Apr;42(4):348-54.
    pmc: PMC3092069pubmed: 20208533doi: 10.1038/ng.548google scholar: lookup

Citations

This article has been cited 7 times.
  1. Domanska-Kruppa N, Venner M, Bienert-Zeit A. Cephalometric Study of the Overjet Development in Warmblood Foals. Front Vet Sci 2019;6:431.
    doi: 10.3389/fvets.2019.00431pubmed: 31850386google scholar: lookup
  2. Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. Anim Genet 2019 Dec;50(6):569-597.
    doi: 10.1111/age.12857pubmed: 31568563google scholar: lookup
  3. Vieira AR. Orthodontics and Genetics. Dental Press J Orthod 2019 May 20;24(2):92-97.
    doi: 10.1590/2177-6709.24.2.092-097.sarpubmed: 31116292google scholar: lookup
  4. Spoormakers TJP, Wiemer P. Treatment of class 2 malocclusion by corrective osteotomy using two short locking compression plates. Equine Vet J 2019 May;51(3):316-322.
    doi: 10.1111/evj.13027pubmed: 30267592google scholar: lookup
  5. Babbucci M, Ferraresso S, Pauletto M, Franch R, Papetti C, Patarnello T, Carnier P, Bargelloni L. An integrated genomic approach for the study of mandibular prognathism in the European seabass (Dicentrarchus labrax). Sci Rep 2016 Dec 8;6:38673.
    doi: 10.1038/srep38673pubmed: 27929136google scholar: lookup
  6. Frischknecht M, Neuditschko M, Jagannathan V, Drögemüller C, Tetens J, Thaller G, Leeb T, Rieder S. Imputation of sequence level genotypes in the Franches-Montagnes horse breed. Genet Sel Evol 2014 Oct 1;46(1):63.
    doi: 10.1186/s12711-014-0063-7pubmed: 25927638google scholar: lookup
  7. Folgmann MS, Stock KF, Feige K, Delling U. Clinical findings of candidate stallions presented for licensing at all German Warmblood horse-breeding associations in 2018-2020. Equine Vet J 2025 Nov;57(6):1584-1591.
    doi: 10.1111/evj.14474pubmed: 39838856google scholar: lookup
Subscribe to our newsletter
Join 99,357 horse owners like you who receive our email updates on horse health and nutrition.