The effectiveness of genetic markers and the role of environmental factors in hip dysplasia and osteochondritis dissecans of the shoulder in German Shepherd, Labrador Retriever, and German Wirehaired Pointer (Deutsch Drahthaar) dogs

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-01-31 DOI:10.1016/j.genrep.2025.102153

Sena Ardicli , Pelin Yigitgor , Dogukan Ozen , Huseyn Babayev , Berkay Bozkurt , Nursen Senturk , Ezgi Irem Bektas , Ozge Ardicli , Stephen Skolnick , Mehmet Pilli , Hakan Salci , Deniz Seyrek Intas

{"title":"The effectiveness of genetic markers and the role of environmental factors in hip dysplasia and osteochondritis dissecans of the shoulder in German Shepherd, Labrador Retriever, and German Wirehaired Pointer (Deutsch Drahthaar) dogs","authors":"Sena Ardicli , Pelin Yigitgor , Dogukan Ozen , Huseyn Babayev , Berkay Bozkurt , Nursen Senturk , Ezgi Irem Bektas , Ozge Ardicli , Stephen Skolnick , Mehmet Pilli , Hakan Salci , Deniz Seyrek Intas","doi":"10.1016/j.genrep.2025.102153","DOIUrl":null,"url":null,"abstract":"<div><div>Canine Hip Dysplasia (CHD) is the most frequently diagnosed orthopedic condition in dogs. Similar to CHD, <em>osteochondritis dissecans</em> (OCD) of the shoulder is a developmental disorder in dogs that significantly impacts animal welfare. As polygenic genetic disorders, they exhibit a complex mode of inheritance. Although there are numerous clinical studies, there is insufficient information about the genetic basis of these disorders. Therefore, this study aimed to assess the relationship of the prognostic genetic test markers with CHD and OCD in German Shepherd, Labrador Retriever, and German Wirehaired Pointer dogs.</div><div>We evaluated the efficiency of five SNP markers from the prognostic genetic test for CHD (the Dysgen test) based on available GWAS data in German Shepherd, Labrador Retriever, and German Wirehaired Pointer dogs. Radiographs were captured and assessed according to the official FCI scale for hip dysplasia. In German Wirehaired Pointers, shoulder X-ray evaluations were also performed. We used custom FRET-based primer probes in Real-time PCR and Sanger sequencing for genotyping and tested the evaluation using multiple logistic regression procedures. German shepherds emerged as the most vulnerable to CHD (<em>P</em> < 0.001). In the final logistic model, females are expected to have a 3.54 times higher likelihood of experiencing CHD compared to males (<em>P</em> < 0.05). SNP BICF2G630558239 demonstrated a notable association with CHD, indicating that the GG genotype poses a risk. This SNP is situated in the intronic region of the <em>KIF26B</em> gene, a member of the kinesin superfamily implicated in evolutionarily conserved roles in embryogenesis. We did not observe any association between shoulder OCD-related arthrosis and the SNPs studied.</div><div>These results may contribute to understanding CHD by identifying genotypes associated with epidemiological risk, prompting the need to conduct more thorough investigations.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102153"},"PeriodicalIF":1.0000,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2452014425000263","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Canine Hip Dysplasia (CHD) is the most frequently diagnosed orthopedic condition in dogs. Similar to CHD, osteochondritis dissecans (OCD) of the shoulder is a developmental disorder in dogs that significantly impacts animal welfare. As polygenic genetic disorders, they exhibit a complex mode of inheritance. Although there are numerous clinical studies, there is insufficient information about the genetic basis of these disorders. Therefore, this study aimed to assess the relationship of the prognostic genetic test markers with CHD and OCD in German Shepherd, Labrador Retriever, and German Wirehaired Pointer dogs.

We evaluated the efficiency of five SNP markers from the prognostic genetic test for CHD (the Dysgen test) based on available GWAS data in German Shepherd, Labrador Retriever, and German Wirehaired Pointer dogs. Radiographs were captured and assessed according to the official FCI scale for hip dysplasia. In German Wirehaired Pointers, shoulder X-ray evaluations were also performed. We used custom FRET-based primer probes in Real-time PCR and Sanger sequencing for genotyping and tested the evaluation using multiple logistic regression procedures. German shepherds emerged as the most vulnerable to CHD (P < 0.001). In the final logistic model, females are expected to have a 3.54 times higher likelihood of experiencing CHD compared to males (P < 0.05). SNP BICF2G630558239 demonstrated a notable association with CHD, indicating that the GG genotype poses a risk. This SNP is situated in the intronic region of the KIF26B gene, a member of the kinesin superfamily implicated in evolutionarily conserved roles in embryogenesis. We did not observe any association between shoulder OCD-related arthrosis and the SNPs studied.

These results may contribute to understanding CHD by identifying genotypes associated with epidemiological risk, prompting the need to conduct more thorough investigations.

Abstract Image

查看原文本刊更多论文

遗传标记的有效性和环境因素在德国牧羊犬、拉布拉多猎犬和德国线导犬（Deutsch Drahthaar）髋关节发育不良和肩部夹层性骨软骨炎中的作用

犬髋关节发育不良（CHD）是犬类最常见的骨科疾病。与冠心病类似，肩剥性骨软骨炎（OCD）是狗的一种发育障碍，严重影响动物福利。作为多基因遗传病，它们表现出复杂的遗传模式。虽然有大量的临床研究，但关于这些疾病的遗传基础的信息不足。因此，本研究旨在评估德国牧羊犬、拉布拉多猎犬和德国线导犬的预后基因检测标记与冠心病和强迫症的关系。基于德国牧羊犬、拉布拉多猎犬和德国线导犬的GWAS数据，我们评估了来自冠心病预后基因测试（Dysgen测试）的五个SNP标记的效率。根据髋关节发育不良的官方FCI量表采集x线片并进行评估。在德国有线指示犬中，也进行了肩部x线评估。我们使用定制的基于fret的引物探针进行实时PCR和Sanger测序进行基因分型，并使用多元逻辑回归程序测试评估。德国牧羊犬是最容易患冠心病的。0.001)。在最后的逻辑模型中，女性患冠心病的可能性是男性的3.54倍(P <；0.05)。SNP BICF2G630558239与冠心病显著相关，提示GG基因型存在风险。该SNP位于KIF26B基因的内含子区域，KIF26B基因是激酶超家族的成员，在胚胎发生中具有进化保守的作用。我们没有观察到与肩部强迫症相关的关节病与所研究的snp之间的任何关联。这些结果可能有助于通过确定与流行病学风险相关的基因型来了解冠心病，从而促使开展更彻底的调查。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.