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Topic:Genotyping

Genotyping in horses involves analyzing the genetic makeup of individual horses to identify specific genetic markers. This process aids in understanding genetic variations that may influence traits such as coat color, disease susceptibility, and performance capabilities. Genotyping can be used in breeding programs to select for desirable traits and manage genetic diversity within populations. Common methods for genotyping include single nucleotide polymorphism (SNP) analysis and microsatellite markers. This page compiles peer-reviewed research studies and scholarly articles that explore the methodologies, applications, and implications of genotyping in equine genetics and breeding.
Evidence That GYPA (Glycophorin A) Encodes the K Blood Group System in Horses.
Animal genetics    March 16, 2026   Volume 57, Issue 2 e70083 doi: 10.1002/age.70083
Mackowski M, Kajdasz A, Laskowska K, Cieslak J.Although serological and genetic studies of equine blood group systems have been conducted for many years, the molecular basis of erythrocyte antigens' variability has remained largely unexplored. In this study, we aimed to elucidate the genetic basis of serological variation within equine blood group K. Using mRNA extracted from peripheral blood samples (n = 100) collected from horses with known serological blood types (Ka or K-), we performed a transcriptome-wide association study (TWAS), which revealed a significantly associated region on equine chromosome 2 (ECA2). A detailed analysis ...
Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse.
BMC genomics    March 11, 2026   doi: 10.1186/s12864-026-12728-5
No abstract available
Screening of Y-chromosomal STR loci and development of a multiplex PCR system for paternal lineage identification in horses.
Equine veterinary journal    March 10, 2026   doi: 10.1002/evj.70153
Li Y, Fu C, Yun X, Zhang H, Yang T, Feng M, Wang X, Qian S, Xing W, Yang R, Wu J, Liu Y, Zhao C.With growing demand for pedigree verification and breed management in horses (Equus caballus), reliable paternal lineage tools are essential. Y-chromosomal STRs (Y-STRs) have advantages over autosomal STRs due to paternal inheritance and lack of recombination. However, few validated loci and no standardised efficient genotyping systems limit their use. Current methods often require multiple reactions, increasing cost and labour. Thus, identifying informative Y-STR loci and developing a multiplex PCR system for cost-effective paternal lineage analysis is urgently needed. Objective: To identify ...
The first molecular detection of equine piroplasmosis in Vietnam and genetic characterization of three co-circulating genotypes of Theileria equi.
Parasitology research    February 5, 2026   Volume 125, Issue 1 14 doi: 10.1007/s00436-026-08630-4
Dao TTH, Szűts T, Duong NN, Troung DTQ, Solymosi N, Takács N, Hornok S, Farkas R.Equine piroplasmosis, caused by , and , significantly impacts on the veterinary and economic aspects of the global horse industry. However, many countries, including Vietnam, have not yet conducted epidemiological surveys to determine the prevalence of these haemoparasites. This study aimed to detect and/or infections in horses and to identify their genotypes. Blood samples were collected from 154 apparently healthy horses in eight districts of Hanoi, Thai Nguyen, and Son La provinces located in the northern part of the country. Twenty-four horses (15.58%, 95%CI: 10.70–22.14%) were found ...
Molecular Prevalence and Genotypic Diversity of Theileria equi in Xinjiang, China, Based on Three Genes.
Veterinary sciences    December 25, 2025   Volume 13, Issue 1 27 doi: 10.3390/vetsci13010027
Qin S, Kulabieke T, Mizhamuhan D, Zhang M, Jin M, Abula G, Pi M, Wang H, Zhang Y, Guo Q.Equine theileriosis, caused by the protozoan parasite , represents a significant economic threat to the equine industry. In Xinjiang, China, an endemic area for this disease, systematic research on the genetic diversity of has been notably lacking. The aim of this study was to obtain molecular epidemiological data pertaining to the parasite in selected regions of Xinjiang, China, and analyze the genetic characteristics (including rRNA, , and genes) and genotype distribution patterns of isolates from these regions, providing a scientific basis for developing targeted prevention and control s...
PCR-RFLP method applied for identification of Warmblood Fragile Foal Syndrome carriers in Polish warmblood horses.
Polish journal of veterinary sciences    December 19, 2025   Volume 28, Issue 4 663-666 doi: 10.24425/pjvs.2025.157280
Kamiński S, Bejda J, Lewczuk D.The method for identifying the causative mutation for Warmblood Fragile Foal Syndrome (WFFS) involved PCR amplification of a 259-base pair fragment of the PLOD1 gene and its digestion with the restriction enzyme Aci I was developed, allowing for the clear detection of WFFS carriers. Eight WFFS carriers were detected among 308 warmblood horses kept in different farms across Poland, giving an overall frequency of 2.59%, which indicates a rather low frequency of the causative mutation for WFFS in Poland. Further research should be conducted on a larger number of horses, particularly those breeds ...
Advances in Equine Genomics: Decoding the Genetic Architecture of Morphology, Performance, Behavior, and Adaptation.
Molecular biotechnology    December 19, 2025   doi: 10.1007/s12033-025-01544-z
Sharma M, Singh A, Kumar V, Olla N, Arora R, Sharma R, Mohan NH, Ahlawat S.The genus Equus, encompassing horses, donkeys, and extinct relatives, has evolved over approximately 55 million years from small, multi-toed ancestors to the modern horse. Selective breeding has produced over 600 distinct horse breeds optimized for diverse traits such as size, conformation, performance, and adaptability. In the past two decades, rapid advances in equine genomics have significantly deepened our understanding of the molecular basis of these traits. The integration of high-throughput sequencing, genome-wide association studies (GWAS), and single-nucleotide polymorphism (SNP) geno...
Genetic Characterization of the Arabian Horse Population in Tunisia Using Microsatellites.
Life (Basel, Switzerland)    December 16, 2025   Volume 15, Issue 12 1925 doi: 10.3390/life15121925
Jlassi M, Dhifalli I, Ouled Ahmed H, Lasfar F, El Gtari M, Jemmali B.The genetic diversity and population structure of Tunisian Arabian horses were assessed using highly polymorphic microsatellite markers, which are critical for conservation and breeding programs. Despite the cultural and economic importance of Arabian horses in Tunisia, molecular data supporting their management remain limited. In this study, DNA from 130 horses was genotyped with 17 ISAG-FAO-recommended microsatellites to evaluate diversity within Eastern and Western Arabian lineages and their relationship to Thoroughbreds. Eastern Arabians showed an average of 5.176 alleles per locus, observ...
Comparison between SNP array and imputed data to estimate population structure and ROH hotspots in horse breeds.
BMC genomics    November 29, 2025   Volume 26, Issue 1 1086 doi: 10.1186/s12864-025-12256-8
Chessari G, Reich P, Criscione A, Falker-Gieske C, Mastrangelo S, Tumino S, Bordonaro S, Marletta D, Tetens J.Single nucleotide polymorphism (SNP) arrays are commonly used for studying the genomic structure and diversity of livestock breeds, but whole-genome sequencing (WGS) provides higher-resolution genomic data. Genotype imputation has become a standard practice for increasing the genomic resolution of association studies. This work aimed to extend imputation to biodiversity analyses, comparing SNP array data before and after imputation. A 40 k SNP dataset of 281 horses from 12 breeds (DS) was imputed to sequence-level using a reference panel of 327 sequenced individuals, generating approximately 9...
A SLC45A2 mutation is strongly associated with the cream dilution in Baroque donkeys.
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere    November 28, 2025   Volume 53, Issue 6 372-378 doi: 10.1055/a-2712-8607
Ludwig A, Biermann R, Frölich K, Jandowsky A, Langner C, Lieckfeldt D, Tschann K, Reissmann M.Domestic Baroque donkeys are popular animals in many European parks and zoos. Although their cream coat color is very charismatic, the underlying genetics is still undiscovered. Addressing this question, a candidate approach was used to search for the causative mutation.Considering the knowledge from domestic horses, the () was identified as the most promising candidate. Samples from 77 domesticated donkeys, 11 wild equids, 1 mule and 2 domestic horses were included in comparison. All exons and the flanking intron sequences of the were sequenced (2774bp).Sequence comparison revealed that a m...
Fine-scale assessment of ROH patterns and genomic inbreeding in diverse horse breeds using two SNP array densities.
BMC veterinary research    November 25, 2025   Volume 21, Issue 1 688 doi: 10.1186/s12917-025-05143-7
Moghbeli Damane M, Ayatollahi Mehrgardi A, Esmailizadeh A, Momen M.Inbreeding is caused by mating between related individuals and is associated with reduced fitness and performance. Generally, in the horse population, inbreeding is caused by geographically restricted areas and intensive natural or artificial selection. For this reason, assessing accurate inbreeding is essential for developing and implementing effective breeding strategies aimed at preserving genetic diversity and reducing the harmful consequences of inbreeding. One of the most accurate approaches for assessing genomic inbreeding and autozygosity is through the analysis of runs of homozygosity...
Molecular detection and genotyping of Theileria equi infection within the equine population in Giza, Egypt, using real-time PCR as compared with conventional detection methods.
Iranian journal of veterinary research    October 31, 2025   Volume 26, Issue 2 145-151 doi: 10.22099/ijvr.2025.51028.7553
Soliman AM, Elhawary NM, Helmy NM, El-Seify MA, Amer MM, Mohamed S, Memon FU, Rashid MHO, Gadelhaq SM.Equine piroplasmosis represents one of the main and serious health problems affecting the equines industry globally, caused by a tick-borne protozoa called and . This study aimed to identify and genotype within the equine population from Giza Governorate, Egypt, by comparing the obtained results using the available diagnostic methods. Unassigned: We collected 116 apparently healthy horses from the study area during the first half of 2019 to identify using real-time PCR (qPCR), targeting the gene. The results were compared with those from microscopic examination of Giemsa-stained blood sme...
Surveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies.
Journal of veterinary research    October 27, 2025   Volume 69, Issue 4 600-602 doi: 10.2478/jvetres-2025-0060
Stefaniuk-Szmukier M, Błaszczak A, Długosz B, Musiał A, Ropka-Molik K.The Silesian horse is a heavy warmblood breed developed in Polish Silesia through the covering of local mares by East Frisian and Oldenburg stallions. Because of its historical significance and genetic heritage, the breed is part of a conservation programme in Poland. One of the genetic disorders of concern in warmblood horses is fragile foal syndrome (FFS), an autosomal recessive disease caused by a mutation in the gene (c.2032G>A). Affected foals either perish in late pregnancy or are born with severe connective tissue abnormalities, leading to early death. As carriers do not exhibit sympto...
Genome-wide association study reveals candidate loci on ECA1 and ECA9 for withers height in Friesian horses.
Animal genetics    October 15, 2025   Volume 56, Issue 5 e70049 doi: 10.1111/age.70049
Steensma MJ, Doekes HP, Derks MFL, Ducro BJ.In Friesian horses, withers height is an important trait as a minimum has been set to be eligible to the studbook. Several loci for withers height have been identified in horses. However, withers height has not been studied in the Friesian horse. Therefore, our aim was to identify loci associated with withers height in the Friesian horse population. We performed a genome-wide association study using 70 K SNP data of 2192 Friesian horses. We found ECA1 and ECA9 to be significantly associated with withers height, explaining 19.6% and 3.5% of the phenotypic variance, respectively. In other hors...
Connections Between Gene Polymorphism and Fetlock and Hock Measurements in Polish Sport Horses.
International journal of molecular sciences    October 2, 2025   Volume 26, Issue 19 9645 doi: 10.3390/ijms26199645
Lewczuk D, Wypchło M, Hecold M, Buczkowska R, Korwin-Kossakowska A.Finding the causative mutations for musculoskeletal system development and health status is of a higher priority for all sport horse breeders' associations. Of the regulating proteins involved in animal ossification, 15 gene polymorphisms were chosen to be identified as connected with the nine fetlock and 14 hock bone structures measurements of 198 horses. All measurements were taken using X-rays of the limbs, which were available at the beginning and end of the horse training. The analysis of variance (GLM, SAS program) was performed taking into account identified training and horse-connected...
Comparing Genomic and Pedigree Inbreeding Coefficients in the Slovenian Lipizzan Horse as a Case Study for Small Closed Populations.
Animals : an open access journal from MDPI    September 23, 2025   Volume 15, Issue 19 2774 doi: 10.3390/ani15192774
Luštrek B, Šimon M, Turk K, Bogičević S, Potočnik K.In small, closed populations such as the Lipizzan horse, maintaining genetic diversity while limiting inbreeding is a key challenge in conservation breeding. The Lipizzan is an indigenous Slovenian breed with a small population and restricted gene flow from other subpopulations. Inbreeding is traditionally monitored with pedigree-based coefficients, but these often underestimate realised autozygosity, particularly when pedigree depth is limited. This study compared pedigree-based inbreeding (F_PED) with four genomic estimators (F_HOM, F_ROH, F_HBD, F_GRM) in 329 Slovenian Lipizzan horses genot...
Evaluation of the Effectiveness of Single-Nucleotide Polymorphisms Versus Microsatellites for Parentage Verification in Horse Breeds.
Veterinary sciences    September 15, 2025   Volume 12, Issue 9 890 doi: 10.3390/vetsci12090890
Kim D, Lee S, Oyungerel B, Cho G.This study aimed to generate information for parentage testing in horse breeds using microsatellites (STRs) and single-nucleotide polymorphisms (SNPs). Genotype data were obtained from 189 horse hair root samples, including 38 Thoroughbreds (TBs), 17 Jeju horses (JHs), 20 Quarter horses (QHs), 21 American Miniatures (AMs), and 93 Mongolian horses (MHs), using 15 STR markers and 71 SNP markers. Comparative analysis revealed that the mean expected heterozygosity ranged from 0.468 (AM) to 0.491 (JH) for SNPs and from 0.695 (TB) to 0.791 (MH) for STRs. The mean observed heterozygosity ranged from ...
Analysis of Genetic Diversity and Race Genetic Structure of Major Horse Breeds in Xinjiang, China.
Animals : an open access journal from MDPI    September 14, 2025   Volume 15, Issue 18 2690 doi: 10.3390/ani15182690
Hou L, Sulayman A, Zeng Y, Zhou L, Aimaier A, Kader A, Shi L.The study of horse genetic diversity is imperative for informing conservation strategies, safeguarding ancestral lineages, and enhancing breed adaptability to environmental and disease pressures. This study employed 13 microsatellite markers with fluorescent-labeled capillary electrophoresis to analyze the genetic diversity of the Kyrgyz horse ( = 30) and Barkol horse ( = 30) for the first time, comparing them with three other indigenous horse breeds ( = 30 per breed) from Xinjiang, China. A total of 208 alleles were detected. The Polymorphic Information Content (PIC) results from GenAlEx 6.51...
Uncovering Genetic Diversity and Adaptive Candidate Genes in the Mugalzhar Horse Breed Using Whole-Genome Sequencing Data.
Animals : an open access journal from MDPI    September 11, 2025   Volume 15, Issue 18 2667 doi: 10.3390/ani15182667
Kassymbekova SN, Bimenova ZZ, Iskhan KZ, Sobiech P, Jastrzebski JP, Brym P, Babis W, Kalykova AS, Otebayev ZM, Kabylbekova DI, Baneh H, Romanov MN.Mugalzhar horses are a relatively young native breed of Kazakhstan, prized for meat and milk production and adaptation. This study was conducted to investigate genetic diversity and pinpoint genomic regions associated with selection signatures in this breed using whole-genome sequence data. Variant calling yielded a total of 21,722,393 high-quality variants, including 19,495,163 SNPs and 2,227,230 indels. Most variants were located in introns and intergenic regions, while only 1.94% were exonic. Estimates of genetic diversity were moderate, with expected and observed heterozygosity and nucleot...
Insights into Genomic Patterns of Homozygosity in the Endangered Dülmen Wild Horse Population.
Genes    September 8, 2025   Volume 16, Issue 9 1054 doi: 10.3390/genes16091054
Duderstadt S, Distl O.Dülmen wild horses are kept in a fenced wooden and marsh area around Dülmen in Westphalia, Germany, since 1856. Previous analyses supported early genetic divergence from other domesticated horse populations and the Przewalski horse. Therefore, the objective of this study was to evaluate genetic diversity using high-density genomic data. Methods: We collected 337 one-year-old male Dülmen wild horses, captured at 12 annual auctions, for genotyping on the Illumina GGP Equine Plus Beadchip. All analyses were performed for 63,123 autosomal SNPs. Results: On average, each horse had 27.96 ROH with...
High-quality, haplotype-resolved reference genomes of the Dutch warmblood horse and Friesian horse using trio binning.
BMC genomics    September 1, 2025   Volume 26, Issue 1 790 doi: 10.1186/s12864-025-11985-0
Steensma MJ, Ducro BJ, Dibbits B, Doekes HP, van Schipstal JGC, Kalblfleisch T, Groenen MAM, Derks MFL.In horses, genetic diversity is predominantly observed between breeds, with little variation within breeds. The studbooks of the two largest horse populations in the Netherlands, the Dutch Warmblood horse and Friesian horse population, have ongoing conservation projects including collecting large-scale genotype and sequence data. The current reference genome, derived from a Thoroughbred horse can lead to bias in genetic analyses of other horse breeds. Therefore, the aim of this study was to create high-quality breed-specific reference genomes of Dutch Warmblood and Friesian horses. We performe...
The rise of rideable horses.
Science (New York, N.Y.)    August 28, 2025   Volume 389, Issue 6763 874-875 doi: 10.1126/science.aea6151
Frantz L.Early horse riders selected a rare mutation in a single gene to enhance rideability.
Selection at the GSDMC locus in horses and its implications for human mobility.
Science (New York, N.Y.)    August 28, 2025   Volume 389, Issue 6763 925-930 doi: 10.1126/science.adp4581
Liu X, Jia Y, Pan J, Zhang Y, Gong Y, Wang X, Ma Y, Alvarez N, Jiang L, Orlando L.Horsepower revolutionized human history through enhanced mobility, transport, and warfare. However, the suite of biological traits that reshaped horses during domestication remains unclear. We scanned an extensive horse genome time series for selection signatures at 266 markers associated with key traits. We detected a signature of positive selection at -known to be a modulator of behavior in mice-occurring ~5000 years ago (ya), suggesting that taming was one of the earliest steps toward domestication of horses. Intensive selection at began ~4750 ya with the domestication bottleneck, leading ...
Population Structure and Genetic Diversity Among Shagya Arabian Horse Genealogical Lineages in Bulgaria Based on Microsatellite Genotyping.
Veterinary sciences    August 19, 2025   Volume 12, Issue 8 776 doi: 10.3390/vetsci12080776
The Shagya Arabian horse breed was created to address the need of Imperial Hussars (Hungarian light horsemen) for a horse with the intelligence, essential characteristics, and endurance of the Arabian breed, but also of a bigger size and having a better weight-carrying capacity and jumping ability. The present study aimed to explore the genetic variability and population structure of the uninvestigated Shagya Arabian horse population in Bulgaria based on genotyping at 15 equine microsatellite markers. A total of 140 horses belonging to six genealogical lines (Dahoman, Gazal, Ibrahim, Kuhailan ...
Genotype concordance and trait mapping efficacy comparing data from the Equine 670 K SNP array with whole genome sequence in 21 horses.
Animal genetics    August 16, 2025   Volume 56, Issue 4 e70037 doi: 10.1111/age.70037
Van Buren SL, Petersen JL, Brown CT, Finno CJ.With advancing genomic technologies, single-nucleotide polymorphism (SNP) arrays and whole genome sequencing (WGS) have become essential tools in equine genetic research. In this study, we assessed the concordance in SNP calls and trait-mapping efficacy by comparing data of 21 horses both genotyped on the Equine 670 K SNP array and sequenced at either ~12× or ~30× depth. Our analysis revealed that higher sequencing depths were significantly associated with fewer discordant calls between platforms. Additionally, we investigated the most frequent no-call and discordant positions and identifi...
Identification of a Novel Haplotype Associated with Roan Coat Color in American Quarter Horses.
Animals : an open access journal from MDPI    August 14, 2025   Volume 15, Issue 16 2386 doi: 10.3390/ani15162386
Everts RE, Caron R, Foster G, McLoone K, Simiele L, Martin K, Brooks SA, Lafayette C.Roan coat color is described as the dispersion of white hairs within an otherwise solid background-color coat. This phenotype is primarily expressed on the body of the horse, with the head and legs exhibiting few or no white hairs. Previous studies mapped the locus for roan to the region and observed linked variants in a small number of breeds. Recently, we reported evidence for two independent haplotypes, and , in the region, which account for approximately 38% and 36% of roan horses, respectively. In the current report, using whole genome sequencing for unknown roan samples. We present a ...
Whole-Genome Resequencing Analysis of Athletic Traits in Grassland-Thoroughbred.
Animals : an open access journal from MDPI    August 7, 2025   Volume 15, Issue 15 2323 doi: 10.3390/ani15152323
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.Speed is not only the primary objective of racehorse breeding but also a crucial indicator for evaluating racehorse performance. This study investigates a newly developed racehorse breed in China. Through whole-genome resequencing, we selected 60 offspring obtained from the crossbreeding of Thoroughbred horses and Xilingol horses for this study. This breed is tentatively named "Grassland-Thoroughbred", and the samples were divided into two groups based on racing ability: 30 racehorses and 30 non-racehorses. Based on whole-genome sequencing data, the study achieved an average sequencing depth o...
The genomic history of Iberian horses since the last Ice Age.
Nature communications    August 2, 2025   Volume 16, Issue 1 7098 doi: 10.1038/s41467-025-62266-z
Horses have inhabited Iberia (present-day Spain and Portugal) since the Middle Pleistocene, shaping a complex history in the region. Iberia has been proposed as a potential domestication centre and is renowned for producing world-class bloodlines. Here, we generate genome-wide sequence data from 87 ancient horse specimens (median coverage = 0.97X) from Iberia and the broader Mediterranean to reconstruct their genetic history over the last ~26,000 years. Here, we report that wild horses of the divergent IBE lineage inhabited Iberia from the Late Pleistocene, while domesticated DOM2 horses, nati...
Population structure and signature of selection for body size in some Iranian and exotic horse breeds.
Journal of equine veterinary science    July 29, 2025   Volume 152 105658 doi: 10.1016/j.jevs.2025.105658
Bazvand B, Rashidi A, Zandi MB, Moradi MH, Rostamzadeh J, Mahmoudi P.Iran is home to genetically distinct horse breeds shaped by geography and history. Breeds like the Kurdish, Caspian pony, and Turkmen reflect deep-rooted diversity and unique adaptive traits. Objective: This study aimed to identify genomic regions exhibiting signatures of selection and to detect candidate genes and biological pathways related to body size that may influence performance in various Iranian and exotic horse breeds. Methods: Samples were collected from three Iranian native breeds (Caspian pony, Turkmen, and Kurdish) and three exotic breeds (Fell pony, Arabian, and Akhal-Teke) orig...
Analysis of ROH Characteristics Across Generations in Grassland-Thoroughbred Horses and Identification of Loci Associated with Athletic Traits.
Animals : an open access journal from MDPI    July 13, 2025   Volume 15, Issue 14 2068 doi: 10.3390/ani15142068
Ding W, Gong W, Bou T, Shi L, Lin Y, Shi X, Li Z, Wu H, Dugarjaviin M, Bai D.The core objective of racehorse breeding is to enhance the speed and endurance of the horses. The Grassland-Thoroughbred is an emerging horse breed developed in northern China in recent years, characterized by excellent speed performance, enduring stamina, and strong environmental adaptability. However, research on the genetic characteristics within this breed and the genes associated with athletic performance remains relatively limited. We conducted whole-genome resequencing of Grassland-Thoroughbred F1, F2, F3, and the crossbred population (CY) and obtained a total of 4056.23 Gb of high-qual...
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