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This study was partially financed by an INIA-CITA agreement, FITE funds (LACTOCYNARA), European Union Regional Development funds, and the Research Group Funds of the Aragon Government (Ref. A06_20R and A14_20R). Yasemin Oner was supported by TUBITAK from Turkiye grant, n degrees: BIDEB-2219-1059B19170062266).

Analysis of institutional authors

Iguacel, LpAuthorEstrada, OAuthorJuan, TrAuthorCalvo, JhCorresponding Author

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July 12, 2021
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Genome-Wide Association Studies of Somatic Cell Count in the Assaf Breed

Publicated to:Animals. 11 (6): 1531- - 2021-06-01 11(6), DOI: 10.3390/ani11061531

Authors: Oner, Yasemin; Serrano, Malena; Sarto, Pilar; Iguacel, Laura Pilar; Piquer-Sabanza, Maria; Estrada, Olaia; Juan, Teresa; Calvo, Jorge Hugo

Affiliations

ARAID, Zaragoza 50018, Spain - Author
BCCInnovation, Basque Culinary Ctr, Technol Ctr Gastron, Donostia San Sebastian 20009, Spain - Author
INIA, Dept Mejora Genet Anim, Madrid 28040, Spain - Author
Uludag Univ, Dept Anim Sci, TR-16059 Bursa, Turkey - Author
Zaragoza Univ, Ctr Invest & Tecnol Agroalimentaria Aragon, Inst Agroalimentario Aragon IA2, Unidad Prod & Sanidad Anim,CITA, Zaragoza 50059, Spain - Author
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Abstract

Simple Summary Mastitis causes economic loss due to discarded milk and reduced milk production and quality, increased medical care costs and somatic cell count (SCC) penalties. The use of genetic markers associated with the variability of this trait through marker-assisted selection (MAS) could help traditional methods. Our objectives were to identify new single nucleotide polymorphisms (SNPs) and genes associated with mastitis resistance in Assaf sheep by using the Illumina Ovine Infinium (R) HD SNP BeadChip (680K). Firstly, corrected phenotype estimates for somatic cell score (SCS) were calculated using 6173 records from 1894 multiparous Assaf ewes, and were used to select 192 extreme animals (low SCS group: n = 96; and high SCS group: n = 96) for the genome-wide association study (GWAS). Four SNPs (rs419096188, rs415580501, rs410336647, and rs424642424), three of them totally linked, were found to be significant at the chromosome level (FDR 10%) in two different regions of OAR19 close to genes related to the immune system response. Validation studies of two SNPs (rs419096188 and rs424642424) by Kompetitive Allele-Specific PCR (KASP) genotyping in the total population (n = 1894) confirmed previous GWAS association results for the SCS trait. Finally, the SNP rs419096188 was also associated with lactose content trait. A genome-wide association study (GWAS) was performed to identify new single nucleotide polymorphisms (SNPs) and genes associated with mastitis resistance in Assaf sheep by using the Illumina Ovine Infinium HD SNP BeadChip (680K). In total, 6173 records from 1894 multiparous Assaf ewes with at least three test day records and aged between 2 and 7 years old were used to estimate a corrected phenotype for somatic cell score (SCS). Then, 192 ewes were selected from the top (n = 96) and bottom (n = 96) tails of the corrected SCS phenotype distribution to be used in a GWAS. Although no significant SNPs were found at the genome level, four SNPs (rs419096188, rs415580501, rs410336647, and rs424642424) were significant at the chromosome level (FDR 10%) in two different regions of OAR19. The SNP rs419096188 was located in intron 1 of the NUP210 and close to the HDAC11 genes (61 kb apart), while the other three SNPs were totally linked and located 171 kb apart from the ARPP21 gene. These three genes were related to the immune system response. These results were validated in two SNPs (rs419096188 and rs424642424) in the total population (n = 1894) by Kompetitive Allele-Specific PCR (KASP) genotyping. Furthermore, rs419096188 was also associated with lactose content.

Keywords

dairygwasmastitissheepDairyDeacetylasesGenesGwasHaplotypesMastitisMastitis resistancePredictionRevealsScoreSheepSomatic cell countTool

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Animals due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2021, it was in position 16/145, thus managing to position itself as a Q1 (Primer Cuartil), in the category Veterinary Sciences.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 1.56, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Sep 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-09-16, the following number of citations:

  • WoS: 6
  • Scopus: 7
  • Europe PMC: 6
  • Google Scholar: 6

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-09-16:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 12.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 12 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.
  • The number of mentions on the social network X (formerly Twitter): 2 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Turkey.

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Calvo Lacosta, Jorge Hugo).

the author responsible for correspondence tasks has been Calvo Lacosta, Jorge Hugo.