OMIA 000862-9823 : Resistance to oedema disease (F18 receptor) in Sus scrofa

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2000

Species-specific name: Escherichia coli F18 receptor

Species-specific symbol: ECF18R

Species-specific description: Not to be confused with oedema (see MIA 000736), oedema disease is a fatal infectious disease of weaners and growers, characterised by incoordination, a hoarseness of voice, weakness, flaccid paralysis and blindness. Although oedema of the eyelids, face and ears is diagnostic, this trait is seldom visible during clinical examination. Also called gut oedema or bowel oedema. Caused by opportunistic colonisation by strains of Escherichia coli having F18 fimbriae on their surface (also called F18 surface antigens).

Inheritance: Bertschinger et al. (1993) provided substantial evidence from breeding experiments for single-locus autosomal recessive inheritance of resistance to experimental challenge with a causative strain of E. coli. The gene is called ECF18R (for E. coli receptor F18), with alleles B for susceptibility and b for resistance.

Mapping: Using "14 blood group systems, 11 biochemical polymorphisms and the polymorphism at nucleotide 1843 of the RYR1 locus", Vogeli et al. (1996) mapped ECF18R to the middle of the hal (RYR1) linkage group on chromosome SSC6. Noting that one of the genes in this linkage group is the S gene (for suppression of blood group system A), and that the likely human homologue of S is blood group system I-I (whose locus encodes the enzyme alpha-fucosyltransferase, FUT), Meijerink et al. (1997) isolated porcine homologues of FUT, and showed that they mapped to the same location as the S gene, i.e. the recombination fraction between FUT and S is zero.

Markers: By sequencing one of the FUT genes (FUT1) in resistant and susceptible pigs, Meijerink et al. (1997) then identified two base substitutions (at bp 307 and 857) that are in strong linkage disequilibrium with resistance/susceptibility. In the short term, these polymorphisms provide valuable markers for resistance. In the not-too-distant future, we will know whether FUT is actually the ECF18R gene.

Molecular basis: Meijerink et al. (2000) provided strong evidence that the previously-described base substitution at nucleotide 307 of the FUT1 gene (see Marker section above), which is a G to A missense mutation, resulting in 103 (Ala-->Thr), is the key mutation in enabling "adhesion of ECF18 bacteria to small intestinal mucosa".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) Sus scrofa 6 NC_010448.4 (54080475..54077431) FUT1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Resistance to oedema disease (F18 receptor) FUT1 missense c.307G>A p.A103T 2000 11132149

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2016 Nguyen, U.V., Coddens, A., Melkebeek, V., Devriendt, B., Goetstouwers, T., Poucke, M.V., Peelman, L., Cox, E. :
High susceptibility prevalence for F4(+) and F18(+)Escherichia coli in Flemish pigs. Vet Microbiol :, 2016. Pubmed reference: 26822901. DOI: 10.1016/j.vetmic.2016.01.014.
2014 Syrovnev, G.I. :
[The genetic polymorphism of FUT1 and MUC4 loci in local population of Ukrainian meat breed pigs]. Tsitol Genet 48:54-9, 2014. Pubmed reference: 25318177.
2013 Liu, L., Wang, J., Zhao, Q., Zi, C., Wu, Z., Su, X., Huo, Y., Zhu, G., Wu, S., Bao, W. :
Genetic variation in exon 10 of the BPI gene is associated with Escherichia coli F18 susceptibility in Sutai piglets. Gene 523:70-5, 2013. Pubmed reference: 23562783. DOI: 10.1016/j.gene.2013.02.051.
2012 Bao, W.B., Ye, L., Pan, Z.Y., Zhu, J., Du, Z.D., Zhu, G.Q., Huang, X.G., Wu, S.L. :
The effect of mutation at M307 in FUT1 gene on susceptibility of Escherichia coli F18 and gene expression in Sutai piglets. Mol Biol Rep 39:3131-6, 2012. Pubmed reference: 21691705. DOI: 10.1007/s11033-011-1078-6.
Bao, W.B., Ye, L., Pan, Z.Y., Zhu, J., Du, Z.D., Zhu, G.Q., Huang, X.G., Wu, S.L. :
Microarray analysis of differential gene expression in sensitive and resistant pig to Escherichia coli F18. Anim Genet 43:525-34, 2012. Pubmed reference: 22497274. DOI: 10.1111/j.1365-2052.2011.02287.x.
Bao, W.B., Ye, L., Zi, C., Liu, L., Zhu, J., Pan, Z.Y., Zhu, G.Q., Huang, X.G., Wu, S.L. :
Relationship between the expression level of SLA-DQA and Escherichia coli F18 infection in piglets. Gene 494:140-4, 2012. Pubmed reference: 22192910. DOI: 10.1016/j.gene.2011.11.030.
Bao, W.B., Ye, L., Zi, C., Su, X.M., Pan, Z.Y., Zhu, J., Zhu, G.Q., Huang, X.G., Wu, S.L. :
Study on the age-dependent tissue expression of FUT1 gene in porcine and its relationship to E. coli F18 receptor. Gene 497:336-9, 2012. Pubmed reference: 22305985. DOI: 10.1016/j.gene.2012.01.035.
Pastoret, S., Ameels, H., Bossiroy, F., Decreux, A., De Longueville, F., Thomas, A., Desmecht, D. :
Detection of disease resistance and susceptibility alleles in pigs using oligonucleotide microarray hybridization. J Vet Diagn Invest 24:479-88, 2012. Pubmed reference: 22529114. DOI: 10.1177/1040638712442878.
Ye, L., Su, X., Wu, Z., Zheng, X., Wang, J., Zi, C., Zhu, G., Wu, S., Bao, W. :
Analysis of Differential miRNA Expression in the Duodenum of Escherichia coli F18-Sensitive and -Resistant Weaned Piglets. PLoS One 7:e43741, 2012. Pubmed reference: 22937089. DOI: 10.1371/journal.pone.0043741.
Ye, L., Zi, C., Pan, Z.Y., Zhu, J., Du, Z.D., Zhu, G.Q., Huang, X.G., Bao, W.B., Wu, S.L. :
Investigation of the relationship between SLA-1 and SLA-3 gene expression and susceptibility to Escherichia coli F18 in post-weaning pigs. Comp Immunol Microbiol Infect Dis 35:23-30, 2012. Pubmed reference: 22019298. DOI: 10.1016/j.cimid.2011.09.006.
2011 Bao, W.B., Ye, L., Pan, Z.Y., Zhu, J., DU, Z.D., Cai, J.J., Huang, X.G., Zhu, G.Q., Wu, S.L. :
[cDNA microarray on differently expressed genes in duodenum in porcine sensitive or resistant to Escherichia coli F18]. Yi Chuan 33:60-6, 2011. Pubmed reference: 21377960.
Bao, W.B., Ye, L., Pan, Z.Y., Zhu, J., Zhu, G.Q., Huang, X.G., Wu, S.L. :
Beneficial genotype of swine FUT1 gene governing resistance to E. coli F18 is associated with important economic traits. J Genet 90:315-8, 2011. Pubmed reference: 21869481.
Barth, S., Schwanitz, A., Bauerfeind, R. :
Polymerase chain reaction-based method for the typing of F18 fimbriae and distribution of F18 fimbrial subtypes among porcine Shiga toxin-encoding Escherichia coli in Germany. J Vet Diagn Invest 23:454-64, 2011. Pubmed reference: 21908273. DOI: 10.1177/1040638711403417.
Ye, L., Zi, C., Liu, L., Zhu, J., Xie, K.Z., Zhu, G.Q., Huang, X.G., Bao, W.B., Wu, S.L., Wang, J.Y. :
[Study on the relationship between the expression of BPI gene and Escherichia coli F18 infection in piglets]. Yi Chuan 33:1225-30, 2011. Pubmed reference: 22120078.
2008 Bao, WB., Wu, SL., Musa, HH., Zhu, GQ., Chen, GH. :
Genetic variation at the alpha-1-fucosyltransferase (FUT1) gene in Asian wild boar and Chinese and Western commercial pig breeds. J Anim Breed Genet 125:427-30, 2008. Pubmed reference: 19134079. DOI: 10.1111/j.1439-0388.2008.00722.x.
Coddens, A., Verdonck, F., Mulinge, M., Goyvaerts, E., Miry, C., Goddeeris, B., Duchateau, L., Cox, E. :
The possibility of positive selection for both F18(+)Escherichia coli and stress resistant pigs opens new perspectives for pig breeding. Vet Microbiol 126:210-5, 2008. Pubmed reference: 17683883. DOI: 10.1016/j.vetmic.2007.06.021.
Mellencamp, MA., Galina-Pantoja, L., Gladney, CD., Torremorell, M. :
Improving pig health through genomics: a view from the industry. Dev Biol (Basel) 132:35-41, 2008. Pubmed reference: 18817284.
2007 Coddens, A., Verdonck, F., Tiels, P., Rasschaert, K., Goddeeris, BM., Cox, E. :
The age-dependent expression of the F18+ E. coli receptor on porcine gut epithelial cells is positively correlated with the presence of histo-blood group antigens. Vet Microbiol 122:332-41, 2007. Pubmed reference: 17353102. DOI: 10.1016/j.vetmic.2007.02.007.
2005 Horák, P., Urban, T., Dvorák, J. :
The FUT1 and ESR genes--their variability and associations with reproduction in Prestice Black-Pied sows. J Anim Breed Genet 122:210-3, 2005. Pubmed reference: 16130473.
2003 Frydendahl, K., Kare, Jensen, T., Strodl, Andersen, J., Fredholm, M., Evans, G. :
Association between the porcine Escherichia coli F18 receptor genotype and phenotype and susceptibility to colonisation and postweaning diarrhoea caused by E. coli O138:F18 Veterinary Microbiology 93:39-51, 2003. Pubmed reference: 12591205.
Shi, Q.S., Huang, S.Q., Liu, X.C., He, C.Q., Jiang, J. :
Polymorphism of E. coli F18 receptor gene in different pig breeds. Yi Chuan Xue Bao 30:221-4, 2003. Pubmed reference: 12812087.
Yan, XM., Ren, J., Guo, YM., Ding, NS., Chen, KF., Gao, J., Ai, HS., Chen, CY., Ma, JW., Huang, LS. :
Research on the genetic variations of a1-fucosytransferase (FUT1) gene in 26 pig breeds. Yi Chuan Xue Bao 30:830-4, 2003. Pubmed reference: 14577374.
2002 Lee, S.H., Cho, K.K., Kang, S.K., Kim, C.W., Park, H.C., Choy, Y.H., Choi, Y.J. :
Detection of pigs resistant to post-weaning diarrhoea, oedema disease and porcine stress syndrome by allele-specific polymerase chain reaction Animal Genetics 33:237-239, 2002. Pubmed reference: 12030936.
2001 da Silva, A.S., Valadares, G.F., Penatti, M.P.A., Brito, B.G., Leite, D.D. :
Escherichia coli strains from edema disease: O serogroups, and genes for Shiga toxin, enterotoxins, and F18 fimbriae Veterinary Microbiology 80:227-233, 2001. Pubmed reference: 11337138.
2000 Anon. :
Natural resistance to edema disease is on the way Large Animal Practice 21:35, 2000.
Meijerink, E., Neuenschwander, S., Fries, R., Dinter, A., Bertschinger, H.U., Stranzinger, G., Vogeli, P. :
A DNA polymorphism influencing alpha(1,2)fucosyltransferase activity of the pig FUT1 enzyme determines susceptibility of small intestinal epithelium to Escherichia coli F18 adhesion Immunogenetics 52:129-136, 2000. Pubmed reference: 11132149.
1999 Klukowska, J., Urbaniak, B., Switonski, M. :
High frequency of M307(A) mutation at FUT1 locus, causing resistance to oedema disease, in an autochtonous Polish pig breed, the Zlotnicka Spotted Journal of Animal Breeding & Genetics-Zeitschrift fur Tierzuchtung und Zuchtungsbiologie 116:519-524, 1999.
Vogeli, P., Meijerink, E., Stranzinger, G., Bertschinger, H.U. :
Porcine Escherichia coli diarrhoea and oedema disease: pathogenesis and identification of genetic resistant breeding stack Archiv fur Tierzucht-Archives of Animal Breeding 42:28-35, 1999.
1998 Alexa, P., Salajka, E., Hamrik, J., Zizlavsky, M. :
Oedema disease of swine - formation of antibodies neutralizing shiga-like toxin IIV in piglets immunized with the toxoid SLTII Veterinarni Medicina 43:11-16, 1998.
1997 Meijerink, E., Fries, R., Vogeli, P., Masabanda, J., Wigger, G., Stricker, C., Neuenschwander, S., Bertschinger, H.U., Stranzinger, G. :
Two ALPHA(1,2) fucosyltransferase genes on porcine chromosome 6Q11 are closely linked to the blood group inhibitor (s) and escherichia coli F18 receptor (ECF18R) loci Mammalian Genome 8:736-741, 1997. Pubmed reference: 9321466.
Vogeli, P., Meijerink, E., Fries, R., Neuenschwander, S., Vorlander, N., Stranzinger, G., Bertschinger, H.U. :
A molecular test for the identification of E-coli F18 receptors - a break-through in the battle against porcine oedema disease and post-weaning diarrhoea [German] Schweizer Archiv fur Tierheilkunde 139:479-484, 1997. Pubmed reference: 9480539.
1996 Vogeli, P., Bertschinger, H.U., Stamm, M., Stricker, C., Hagger, C., Fries, R., Rapacz, J., Stranzinger, G. :
Genes specifying receptors for F18 fimbriated escherichia coli, causing oedema disease and postweaning diarrhoea in pigs, map to chromosome 6 Animal Genetics 27:321-328, 1996. Pubmed reference: 8930072.
1995 Rippinger, P., Bertschinger, H.U., Imberechts, H., Nagy, B., Sorg, I., Stamm, M., Wild, P. :
Designations F18AB and F18AC for the related fimbrial types F107, 2134P and 8813 of escherichia coli isolated from porcine postweaning diarrhoea and from oedema disease Veterinary Microbiology 45:281-295, 1995. Pubmed reference: 7483242.
Wittig, W., Klie, H., Gallien, P., Lehmann, S., Timm, M., Tschäpe, H. :
Prevalence of the fimbrial antigens F18 and K88 and of enterotoxins and verotoxins among Escherichia coli isolated from weaned pigs. Zentralbl Bakteriol 283:95-104, 1995. Pubmed reference: 9810650.
1994 Imberechts, H., Bertschinger, H.U., Stamm, M., Sydler, T., Pohl, P., Degreve, H., Hernalsteens, J.P., Vanmontagu, M., Lintermans, P. :
Prevalence of F107 fimbriae on Escherichia coli isolated from pigs with oedema disease or postweaning diarrhoea Veterinary Microbiology 40:219-230, 1994. Pubmed reference: 7941287.
1993 Bertschinger, H.U., Stamm, M., Vogeli, P. :
Inheritance of Resistance to Oedema Disease in the Pig - Experiments with an Escherichia coli Strain Expressing Fimbriae-107 Veterinary Microbiology 35:79-89, 1993. Pubmed reference: 8395746.
1992 Imberechts, H., Degreve, H., Lintermans, P. :
The Pathogenesis of Edema Disease in Pigs - A Review Veterinary Microbiology 31:221-233, 1992. Pubmed reference: 1626371.

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  • Created by Frank Nicholas on 01 Dec 2009
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Sep 2012