Polymorphic Microsatellite Markers for Genetic Analysis of Collagen Genes in Suspected Collagenopathies in Dogs

Temwichitr, J.; Hazewinkel, H. A. W.; Hagen, Marjan A. van; Leegwater, P.A.J.

doi:10.1111/j.1439-0442.2007.00980.x

Cited by 10 publications

(4 citation statements)

References 15 publications

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“…The different incidence of CCL rupture in certain breeds could indicate that the condition may have a genetic basis. Heritability of CCL rupture has been studied in Newfoundlands, Boxers and Labrador Retrievers (Wilke et al 2006, Temwichitr et al 2007, Clements et al 2010, Comerford et al 2011. However, the genetics of CCL disease in small breed dogs have not yet been investigated to our knowledge.…”

Section: Breedmentioning

confidence: 99%

Cranial cruciate ligament rupture in small dogs (<15 kg): a narrative literature review

Brioschi

Arthurs

2021

J of Small Animal Practice

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Small breed dogs (<15 kg) affected by cranial cruciate ligament rupture secondary to cranial cruciate ligament disease are usually middle-aged (mean age at presentation: 5.4 to 9.8 years); terrier breeds, miniature and toy poodles are over-represented. Small breed dogs have a different morphology of the proximal tibia compared to medium and large breed dogs with a steep tibial plateau angle (mean tibial plateau angle 28.8° to 36.3°), absent base of the flare of the tibial tuberosity and a caudally bowed fibula. There is a lack of evidence regarding the optimal management of cranial cruciate ligament rupture in small dogs. The treatment options consist of conservative management, extracapsular stabilisation, cranial closing wedge ostectomy, tibial plateau levelling osteotomy and tibial tuberosity advancement. The limited evidence available shows that conservative management is likely to result in prolonged recovery time (average time to recovery approximately 4 months). There is paucity of reports focussing on extracapsular stabilisation in small breed dogs, and questions have been raised regarding the early failure of the extracapsular suture subject to higher loads due to the steep tibial plateau angle of small breed dogs. Cranial closing wedge ostectomy and tibial plateau levelling osteotomy have been reported to have low major complication rates and good subjective outcomes. It is controversial whether tibial tuberosity advancement is a suitable technique in dogs with steep tibial plateau angle, which includes most small breed dogs. *These studies included dogs with bodyweight <18 kg † These studies defined minor complications as those complications that resolved without any intervention and major complications as those complications that resolved with surgical or medical management ‡ This study included a small proportion of medium breed dogs, median bodyweight was 12.5 kg (range 4.5 to 31.9 kg) * This study included a small proportion of medium breed dogs, median bodyweight was 12.5 kg (range 4.5 to 31.9 kg) † These studies included dogs with bodyweight <18 kg * This study included a small proportion of medium breed dogs, median bodyweight was 12.5 kg (range 4.5 to 31.9 kg)

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Section: Breedmentioning

confidence: 99%

Cranial cruciate ligament rupture in small dogs (<15 kg): a narrative literature review

Brioschi

Arthurs

2021

J of Small Animal Practice

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“…The exclusion analysis method was used to identify the mutation that causes oculocutaneous albinism in Doberman Pinscher dogs . Several other research groups have also used a similar approach to exclude candidate genes as being causative for other phenotypes . It is important to note that inability to exclude a gene is not direct evidence, it is causative of the phenotype (there is a probability that a MS allele could be fixed within a breed), but it does suggest that a closer examination of that gene is warranted.…”

Section: Discussionmentioning

confidence: 99%

A tool set to allow rapid screening of dog families with PRA for association with candidate genes

Winkler

Davis

Petersen‐Jones

et al. 2016

Veterinary Ophthalmology

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“…No significant association was found with COL9A3 and ACL rupture in the population of 90 Newfoundland dogs. Another candidate gene study found no association with COL9A3 and ACL rupture in 12 Boxers [92]. Despite the Newfoundland and Boxer representing high-risk ACL rupture breeds, the candidate gene approach is most successful at identifying large effect mutations associated with monogenic traits and is limited at complex disease small-effect variant discovery [93].…”

Section: Plos Onementioning

confidence: 99%

Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture

et al. 2020

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Anterior cruciate ligament (ACL) rupture is an important condition of the human knee. Second ruptures are common and societal costs are substantial. Canine cranial cruciate ligament (CCL) rupture closely models the human disease. CCL rupture is common in the Labrador Retriever (5.79% prevalence), ~100-fold more prevalent than in humans. Labrador Retriever CCL rupture is a polygenic complex disease, based on genome-wide association study (GWAS) of single nucleotide polymorphism (SNP) markers. Dissection of genetic variation in complex traits can be enhanced by studying structural variation, including copy number variants (CNVs). Dogs are an ideal model for CNV research because of reduced genetic variability within breeds and extensive phenotypic diversity across breeds. We studied the genetic etiology of CCL rupture by association analysis of CNV regions (CNVRs) using 110 case and 164 control Labrador Retrievers. CNVs were called from SNPs using three different programs (PennCNV, CNVPartition, and QuantiSNP). After quality control, CNV calls were combined to create CNVRs using ParseCNV and an association analysis was performed. We found no strong effect CNVRs but found 46 small effect (max(T) permutation P<0.05) CCL rupture associated CNVRs in 22 autosomes; 25 were deletions and 21 were duplications. Of the 46 CCL rupture associated CNVRs, we identified 39 unique regions. Thirty four were identified by a single calling algorithm, 3 were identified by two calling algorithms, and 2 were identified by all three algorithms. For 42 of the associated CNVRs, frequency in the population was <10% while 4 occurred at a frequency in the population ranging from 10–25%. Average CNVR length was 198,872bp and CNVRs covered 0.11 to 0.15% of the genome. All CNVRs were associated with case status. CNVRs did not overlap previous canine CCL rupture risk loci identified by GWAS. Associated CNVRs contained 152 annotated genes; 12 CNVRs did not have genes mapped to CanFam3.1. Using pathway analysis, a cluster of 19 homeobox domain transcript regulator genes was associated with CCL rupture (P = 6.6E-13). This gene cluster influences cranial-caudal body pattern formation during embryonic limb development. Clustered genes were found in 3 CNVRs on chromosome 14 (HoxA), 28 (NKX6-2), and 36 (HoxD). When analysis was limited to deletion CNVRs, the association was strengthened (P = 8.7E-16). This study suggests a component of the polygenic risk of CCL rupture in Labrador Retrievers is associated with small effect CNVs and may include aspects of stifle morphology regulated by homeobox domain transcript regulator genes.

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Polymorphic Microsatellite Markers for Genetic Analysis of Collagen Genes in Suspected Collagenopathies in Dogs

Cited by 10 publications

References 15 publications

Cranial cruciate ligament rupture in small dogs (<15 kg): a narrative literature review

Cranial cruciate ligament rupture in small dogs (<15 kg): a narrative literature review

A tool set to allow rapid screening of dog families with PRA for association with candidate genes

Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture

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