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1.
BMC Genomics ; 15: 259, 2014 Apr 03.
Article in English | MEDLINE | ID: mdl-24707981

ABSTRACT

BACKGROUND: Equine recurrent laryngeal neuropathy (RLN) is a bilateral mononeuropathy with an unknown pathogenesis that significantly affects performance in Thoroughbreds. A genetic contribution to the pathogenesis of RLN is suggested by the higher prevalence of the condition in offspring of RLN-affected than unaffected stallions. To better understand RLN pathogenesis and its genetic basis, we performed a genome-wide association (GWAS) of 282 RLN-affected and 268 control Thoroughbreds. RESULTS: We found a significant association of RLN with the LCORL/NCAPG locus on ECA3 previously shown to affect body size in horses. Using height at the withers of 505 of these horses, we confirmed the strong association of this locus with body size, and demonstrated a significant phenotypic and genetic correlation between height and RLN grade in this cohort. Secondary genetic associations for RLN on ECA18 and X did not correlate with withers height in our cohort, but did contain candidate genes likely influencing muscle physiology and growth: myostatin (MSTN) and integral membrane protein 2A (ITM2A). CONCLUSIONS: This linkage between body size and RLN suggests that selective breeding to reduce RLN prevalence would likely reduce adult size in this population. However, our results do not preclude the possibility of modifier loci that attenuate RLN risk without reducing size or performance, or that the RLN risk allele is distinct but tightly linked to the body size locus on ECA3. This study is both the largest body size GWAS and the largest RLN GWAS within Thoroughbred horses to date, and suggests that improved understanding of the relationship between genetics, equine growth rate, and RLN prevalence may significantly advance our understanding and management of this disease.


Subject(s)
Genome-Wide Association Study , Horse Diseases/genetics , Quantitative Trait, Heritable , Alleles , Animals , Body Size/genetics , Case-Control Studies , Chromosome Mapping , Female , Gene Frequency , Genetic Markers , Genotype , Haplotypes , Horses , Linkage Disequilibrium , Male , Phenotype , Quantitative Trait Loci
2.
Am J Trop Med Hyg ; 99(4): 1049-1052, 2018 10.
Article in English | MEDLINE | ID: mdl-30084341

ABSTRACT

Yemen is a country that has been treating severe cases of oncho-dermatitis since 1992 and is now moving to a program aimed at the elimination of the transmission of Onchocerca volvulus. It is important to ensure that the currently acceptable tools used in epidemiological assessment of onchocerciasis in Africa and Latin America also apply to Yemen. Five hundred and ten blood samples from three known O. volvulus-endemic areas, locations that have never been under a mass treatment program, were tested for the presence of antibodies against a panel of O. volvulus-specific antigens using enzyme-linked immunosorbent assay (Ov16) and luciferase immunoprecipitation system (Ov-FAR-1 and Ov-MSA-1) assays. Overall, 31.4% of the samples tested were positive, with positivity increasing with age. Positivity was seen in 76.5% of those presenting with clinical onchocerciasis but importantly also in more than 28.5% of those defined as free of oncho-dermatitis; these latter individuals are likely to be serving as a source for persistent reinfection. This study supports the use of the current O. volvulus-specific serologic methodology in Yemen.


Subject(s)
Antibodies, Helminth/blood , Antigens, Helminth/blood , Onchocerca volvulus/immunology , Onchocerciasis/epidemiology , Adolescent , Adult , Animals , Child , Enzyme-Linked Immunosorbent Assay , Epidemiological Monitoring , Female , Humans , Immunoprecipitation , Male , Middle Aged , Onchocerca volvulus/isolation & purification , Onchocerciasis/blood , Onchocerciasis/immunology , Onchocerciasis/parasitology , Prevalence , Surveys and Questionnaires , Yemen/epidemiology
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