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Single nucleotide polymorphisms in candidate genes and their relation with somatic cell scores in Argentinean dairy cattle

  • Animal Genetics • Original Paper
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Abstract

The prevention and control of bovine mastitis by enhancing natural defenses in animals is important to improve the quality of dairy products. Mastitis resistance is a complex trait which depends on genetic components, as well as environmental and physiological factors. The limitations of classical control measures have led to the search for alternative approaches to minimize the use of antibiotics by selecting naturally resistant animals. Polymorphisms in genes associated with the innate immune system are strong candidates to be evaluated as genetic markers. In this work, we evaluated a set of single nucleotide polymorphisms (SNPs) in candidate genes for health and production traits, and determined their association with the somatic cell score (SCS) as an indicator of mastitis in Argentinean dairy cattle. We evaluated 941 cows: Holstein (n = 677) and Holstein × Jersey (n = 264) crossbred, daughters from 22 bulls from 14 dairy farms located in the central dairy area of Argentina. Two of the 21 successfully genotyped markers were found to be significantly associated (p < 0.05) with the SCS: GHR_140 and OPN_8514C-T. The heterozygote genotype for GHR_140 showed a favorable effect in reducing the SCS. On the other hand, heterozygote genotypes for OPN8514C-T caused an increase in the SCS; moreover, combined genotypes for OPN SNPs showed an even larger effect. These findings can contribute to the design of effective marker-assisted selection programs.

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References

  • Akaike H (1973) Information theory and an extension of the maximum likelihood principle. In: Petrov BN, Csaki F (eds) Proceedings of the 2nd International Symposium on Information Theory, Akademiai Kiado, Budapest, Hungary, pp 267–281

  • Alain K, Karrow NA, Thibault C, St-Pierre J, Lessard M, Bissonnette N (2009) Osteopontin: an early innate immune marker of Escherichia coli mastitis harbors genetic polymorphisms with possible links with resistance to mastitis. BMC Genomics 10:444

    Article  PubMed Central  PubMed  Google Scholar 

  • Ashwell MS, Heyen DW, Sonstegard TS, Van Tassell CP, Da Y, VanRaden PM, Ron M, Weller JI, Lewin HA (2004) Detection of quantitative trait loci affecting milk production, health, and reproductive traits in Holstein cattle. J Dairy Sci 87:468–475

    Article  CAS  PubMed  Google Scholar 

  • Banos G, Woolliams JA, Woodward BW, Forbes AB, Coffey MP (2008) Impact of single nucleotide polymorphisms in leptin, leptin receptor, growth hormone receptor, and diacylglycerol acyltransferase (DGAT1) gene loci on milk production, feed, and body energy traits of UK dairy cows. J Dairy Sci 91:3190–3200

    Article  CAS  PubMed  Google Scholar 

  • Blott S, Kim JJ, Moisio S, Schmidt-Küntzel A, Cornet A, Berzi P, Cambisano N, Ford C, Grisart B, Johnson D, Karim L, Simon P, Snell R, Spelman R, Wong J, Vilkki J, Georges M, Farnir F, Coppieters W (2003) Molecular dissection of a quantitative trait locus: a phenylalanine-to-tyrosine substitution in the transmembrane domain of the bovine growth hormone receptor is associated with a major effect on milk yield and composition. Genetics 163:253–266

    PubMed Central  CAS  PubMed  Google Scholar 

  • Bramley AJ, Cullor JS, Erskine RJ, Fox LK, Harmon RJ, Hogan JS, Nickerson SC, Oliver SP, Smith KL, Sordillo LM (1996) Current concepts of bovine mastitis. 4th Edition. National Mastitis Council, Madison, WI

  • Capuco AV, Ellis SE, Hale SA, Long E, Erdman RA, Zhao X, Paape MJ (2003) Lactation persistency: insights from mammary cell proliferation studies. J Anim Sci 81:18–31, Review

    CAS  PubMed  Google Scholar 

  • Casas E, Snowder GD (2008) A putative quantitative trait locus on chromosome 20 associated with bovine pathogenic disease incidence. J Anim Sci 86:2455–2460

    Article  CAS  PubMed  Google Scholar 

  • Clark AG (2004) The role of haplotypes in candidate gene studies. Genet Epidemiol 27:321–333

    Article  PubMed  Google Scholar 

  • Cohen M, Seroussi E, Band MR, Lewin HA, Drackley JK, Larkin DM, Everts-van der Wind A, Heon-Lee J, Loor, JJ, Shani M (2004) SPP1 is a candidate gene for the QTL affecting milk protein concentration on BTA6 in Israeli Holstein. In: Proceedings of the 29th International Conference on Animal Genetics, ISAG, Tokyo, Japan, September 2004

  • Denis M, Wedlock DN, Lacy-Hulbert SJ, Hillerton JE, Buddle BM (2009) Vaccines against bovine mastitis in the New Zealand context: what is the best way forward? N Z Vet J 57:132–140

    Article  CAS  PubMed  Google Scholar 

  • Evans R, Berry D (2005) Genetics of Udder Health in Ireland. Report by the Irish Cattle Breeding Federation

  • Fontanesi L, Scotti E, Tazzoli M, Beretti F, Dall’Olio S, Davoli R, Russo V (2009) Investigation of allele frequencies of the growth hormone receptor (GHR) F279Y mutation in dairy and dual purpose cattle breeds. Ital J Anim Sci 6:415–420

    Article  Google Scholar 

  • Frank SJ, Gilliland G, Kraft AS, Arnold CS (1994) Interaction of the growth hormone receptor cytoplasmic domain with the JAK2 tyrosine kinase. Endocrinology 135:2228–2239

    CAS  PubMed  Google Scholar 

  • Hayes B, Goddard M (2010) Genome-wide association and genomic selection in animal breeding. Genome 53:876–883

    Article  CAS  PubMed  Google Scholar 

  • Heringstad B, Klemetsdal G, Ruane J (2000) Selection for mastitis resistance in dairy cattle: a review with focus on the situation in the Nordic countries. Livest Prod Sci 64:95–106

    Article  Google Scholar 

  • Khatib H, Zaitoun I, Wiebelhaus-Finger J, Chang YM, Rosa GJ (2007) The association of bovine PPARGC1A and OPN genes with milk composition in two independent Holstein cattle populations. J Dairy Sci 90:2966–2970

    Article  CAS  PubMed  Google Scholar 

  • Lambert JC, Grenier-Boley B, Harold D, Zelenika D, Chouraki V, Kamatani Y, Sleegers K, Ikram MA, Hiltunen M, Reitz C, Mateo I, Feulner T, Bullido M, Galimberti D, Concari L, Alvarez V, Sims R, Gerrish A, Chapman J, Deniz-Naranjo C, Solfrizzi V, Sorbi S, Arosio B, Spalletta G, Siciliano G, Epelbaum J, Hannequin D, Dartigues JF, Tzourio C, Berr C, Schrijvers EM, Rogers R, Tosto G, Pasquier F, Bettens K, Van Cauwenberghe C, Fratiglioni L, Graff C, Delepine M, Ferri R, Reynolds CA, Lannfelt L, Ingelsson M, Prince JA, Chillotti C, Pilotto A, Seripa D, Boland A, Mancuso M, Bossù P, Annoni G, Nacmias B, Bosco P, Panza F, Sanchez-Garcia F, Del Zompo M, Coto E, Owen M, O’Donovan M, Valdivieso F, Caffarra P, Scarpini E, Combarros O, Buée L, Campion D, Soininen H, Breteler M, Riemenschneider M, Van Broeckhoven C, Alpérovitch A, Lathrop M, Trégouët DA, Williams J, Amouyel P (2013) Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer’s disease. Mol Psychiatry 18:461–470

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Leonard S, Khatib H, Schutzkus V, Chang YM, Maltecca C (2005) Effects of the osteopontin gene variants on milk production traits in dairy cattle. J Dairy Sci 88:4083–4086

    Article  CAS  PubMed  Google Scholar 

  • Lucy MC, Jiang H, Kobayashi Y (2001) Changes in the somatotrophic axis associated with the initiation of lactation. J Dairy Sci 84:E113–E119

    Article  CAS  Google Scholar 

  • Lund MS, Jensen J, Petersen PH (1999) Estimation of genetic and phenotypic parameters for clinical mastitis, somatic cell production deviance, and protein yield in dairy cattle using Gibbs sampling. J Dairy Sci 82:1045–1051

    Article  CAS  PubMed  Google Scholar 

  • Lutzow YC, Donaldson L, Gray CP, Vuocolo T, Pearson RD, Reverter A, Byrne KA, Sheehy PA, Windon R, Tellam RL (2008) Identification of immune genes and proteins involved in the response of bovine mammary tissue to Staphylococcus aureus infection. BMC Vet Res 4:18

    Article  PubMed Central  PubMed  Google Scholar 

  • Meyer, K (2007) WOMBAT – a tool for mixed model analyses in quantitative genetics by REML, J. Zhejiang Uni. Science B 8:815–821

  • Mrode RA, Swanson GJT (1996) Genetic and statistical properties of somatic cell count and its suitability as an indirect means of reducing the incidence of mastitis in dairy cattle. Animal Breed Abstr 64:847–857

    Google Scholar 

  • Oltenacu PA, Broom DM (2010) The impact of genetic selection for increased milk yield on the welfare of dairy cows. Anim Welf 19:39–49

    CAS  Google Scholar 

  • Patarca R, Freeman GJ, Singh RP, Wei FY, Durfee T, Blattner F, Regnier DC, Kozak CA, Mock BA, Morse HC 3rd (1989) Structural and functional studies of the early T lymphocyte activation 1 (Eta-1) gene. Definition of a novel T cell-dependent response associated with genetic resistance to bacterial infection. J Exp Med 170:145–161

    Article  CAS  PubMed  Google Scholar 

  • Rahmatalla SA, Müller U, Strucken EM, Reissmann M, Brockmann GA (2011) The F279Y polymorphism of the GHR gene and its relation to milk production and somatic cell score in German Holstein dairy cattle. J Appl Genet 52:459–465

    Article  CAS  PubMed  Google Scholar 

  • Rodriguez-Zas SL, Southey BR, Heyen DW, Lewin HA (2002) Interval and composite interval mapping of somatic cell score, yield, and components of milk in dairy cattle. J Dairy Sci 85:3081–3091

    Article  CAS  PubMed  Google Scholar 

  • Ron M, Feldmesser E, Golik M, Tager-Cohen I, Kliger D, Reiss V, Domochovsky R, Alus O, Seroussi E, Ezra E, Weller JI (2004) A complete genome scan of the Israeli Holstein population for quantitative trait loci by a daughter design. J Dairy Sci 87:476–490

    Article  CAS  PubMed  Google Scholar 

  • Rupp R, Boichard D (1999) Genetic parameters for clinical mastitis, somatic cell score, production, udder type traits, and milking ease in first lactation Holsteins. J Dairy Sci 82:2198–2204

    Article  CAS  PubMed  Google Scholar 

  • Rupp R, Boichard D (2003) Genetics of resistance to mastitis in dairy cattle. Vet Res 34:671–688

    Article  PubMed  Google Scholar 

  • Rupp R, Hernandez A, Mallard BA (2007) Association of bovine leukocyte antigen (BoLA) DRB3.2 with immune response, mastitis, and production and type traits in Canadian Holsteins. J Dairy Sci 90:1029–1038

    Article  CAS  PubMed  Google Scholar 

  • Schnabel RD, Kim JJ, Ashwell MS, Sonstegard TS, Van Tassell CP, Connor EE, Taylor JF (2005) Fine-mapping milk production quantitative trait loci on BTA6: Analysis of the bovine osteopontin gene. Proc Natl Acad Sci U S A 102:6896–6901

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Schwenger B, Schöber S, Simon D (1993) DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene. Genomics 16:241–244

    Article  CAS  PubMed  Google Scholar 

  • Seegers H, Fourichon C, Beaudeau F (2003) Production effects related to mastitis and mastitis economics in dairy cattle herds. Vet Res 34:475–491

    Article  PubMed  Google Scholar 

  • Sharif S, Mallard BA, Wilkie BN, Sargeant JM, Scott HM, Dekkers JC, Leslie KE (1998) Associations of the bovine major histocompatibility complex DRB3 (BoLA-DRB3) alleles with occurrence of disease and milk somatic cell score in Canadian dairy cattle. Anim Genet 29:185–193

    Article  CAS  PubMed  Google Scholar 

  • Sharma N, Singh NK, Bhadwal MS (2011) Relationship of somatic cell count and mastitis: an overview. Asian-Aust J Anim Sci 24:429–438

    Article  Google Scholar 

  • Shook GE, Schutz MM (1994) Selection on somatic cell score to improve resistance to mastitis in the United States. J Dairy Sci 77:648–658

    Article  CAS  PubMed  Google Scholar 

  • Shuster DE, Kehrli ME Jr, Ackermann MR, Gilbert RO (1992) Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proc Natl Acad Sci U S A 89:9225–9229

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Storey JD, Tibshirani R (2003) Statistical significance for genomewide studies. Proc Natl Acad Sci U S A 100:9440–9445

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Swanson KM, Stelwagen K, Dobson J, Henderson HV, Davis SR, Farr VC, Singh K (2009) Transcriptome profiling of Streptococcus uberis-induced mastitis reveals fundamental differences between immune gene expression in the mammary gland and in a primary cell culture model. J Dairy Sci 92:117–129

    Article  CAS  PubMed  Google Scholar 

  • Taub DD, Murphy WJ, Longo DL (2010) Rejuvenation of the aging thymus: growth hormone-mediated and ghrelin-mediated signaling pathways. Curr Opin Pharmacol 10:408–424

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Thomsen B, Horn P, Panitz F, Bendixen E, Petersen AH, Holm LE, Nielsen VH, Agerholm JS, Arnbjerg J, Bendixen C (2006) A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res 16:97–105

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, Lambert SM, Wu PP, Wang Y, Spoonde AY, Koehler RT, Peyret N, Chen C, Broomer AJ, Ridzon DA, Zhou H, Hoo BS, Hayashibara KC, Leong LN, Ma CN, Rosenblum BB, Day JP, Ziegle JS, De La Vega FM, Rhodes MD, Hennessy KM, Wenz HM (2005) The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. J Biomol Tech 16:398–406

    PubMed Central  PubMed  Google Scholar 

  • Todhunter DA, Smith KL, Hogan JS, Schoenberger PS (1991) Gram-negative bacterial infections of the mammary gland in cows. Am J Vet Res 52:184–188

    CAS  PubMed  Google Scholar 

  • Viitala S, Szyda J, Blott S, Schulman N, Lidauer M, Mäki-Tanila A, Georges M, Vilkki J (2006) The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein production in Finnish Ayrshire dairy cattle. Genetics 173:2151–2164

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Waters SM, McCabe MS, Howard DJ, Giblin L, Magee DA, MacHugh DE, Berry DP (2011) Associations between newly discovered polymorphisms in the Bos taurus growth hormone receptor gene and performance traits in Holstein–Friesian dairy cattle. Anim Genet 42:39–49

    Article  CAS  PubMed  Google Scholar 

  • Weber GF, Zawaideh S, Hikita S, Kumar VA, Cantor H, Ashkar S (2002) Phosphorylation-dependent interaction of osteopontin with its receptors regulates macrophage migration and activation. J Leukoc Biol 72:752–761

    CAS  PubMed  Google Scholar 

  • Weller JI, Saran A, Zeliger Y (1992) Genetic and environmental relationships among somatic cell count, bacterial infection, and clinical mastitis. J Dairy Sci 75:2532–2540

    Article  CAS  PubMed  Google Scholar 

  • Wojdak-Maksymiec K, Kmieć M, Zukiewicz A (2006) Associations between defensin polymorphism and somatic cell count in milk and milk utility traits in Jersey dairy cows. J Vet Med A Physiol Pathol Clin Med 53:495–500

    Article  CAS  PubMed  Google Scholar 

  • Youngerman SM, Saxton AM, Oliver SP, Pighetti GM (2004) Association of CXCR2 polymorphisms with subclinical and clinical mastitis in dairy cattle. J Dairy Sci 87:2442–2448

    Article  CAS  PubMed  Google Scholar 

  • Zecconi A, Calvinho L, Fox L (2006) Staphylococcus aureus intramammary infections. Bulletin of the International Dairy Federation, no. 408, 39 pp

  • Zhao H, Pfeiffer R, Gail MH (2003) Haplotype analysis in population genetics and association studies. Pharmacogenomics 4:171–178

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

This work was supported by Agencia Nacional de Promoción Científica y Tecnológica (PAE 37143, PICT 01523), INTA PNLEC-071051, and INTA AEBIO-245711.

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Authors and Affiliations

  1. E.E.A. Rafaela, Instituto Nacional de Tecnología Agropecuaria, Rafaela, Santa Fe, Argentina

    Juan P. Nani, Luis F. Calvinho & Ariel F. Amadio

  2. Instituto de Genética “Ewald A. Favret”, CICVyA, Instituto Nacional de Tecnología Agropecuaria, Castelar, Buenos Aires, Argentina

    Maria A. Raschia, Hugo Carignano & Mario A. Poli

  3. Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina

    Ariel F. Amadio

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  1. Juan P. Nani
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  2. Maria A. Raschia
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Correspondence to Ariel F. Amadio.

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Communicated by: Maciej Szydlowski

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Nani, J.P., Raschia, M.A., Carignano, H. et al. Single nucleotide polymorphisms in candidate genes and their relation with somatic cell scores in Argentinean dairy cattle. J Appl Genetics 56, 505–513 (2015). https://doi.org/10.1007/s13353-015-0278-5

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  • DOI: https://doi.org/10.1007/s13353-015-0278-5

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