Avaliação das variantes nos genes ENTPD1 (A290G, A291T e G338A) e ENTPD2 (G464A) em equinos atletas com hemorragia pulmonar induzida por exercício
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Data
2022-12-01
Autores
Leite, Raíssa Oliveira
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Universidade Estadual Paulista (Unesp)
Resumo
A hemorragia pulmonar induzida por exercício (HPIE) é caracterizada pela presença de sangue dos pulmões na árvore traqueobrônquica após exercício intenso que acomete cavalos atletas. Apesar da alta prevalência de HPIE em equinos, a etiologia primária permanece desconhecida. Estudos sugerem uma possível causa genética, porém o papel de mutações em genes relacionados a funções hemostáticas que podem estar envolvidos nesta doença é desconhecido. O objetivo deste estudo foi investigar a associação entre EIPH e mutações nos genes ENTPD1 (RefSeq: XM_001500628.6) e ENTPD2 (RefSeq: XM_023629424.1), que codificam as enzimas CD39 e CD39L1, respectivamente. Para tanto, foram genotipados cavalos puro-sangue (n=66) diagnosticados com HPIE por traqueobroncoendoscopia e um grupo controle composto por 56 puro-sangue sem sinais clínicos de HPIE por traqueobroncoendoscopia. Em relação às mutações presentes no gene ENTPD1, a porcentagem de genótipos para a mutação g.290A>G no grupo controle foi de 66,1% (37/56) homozigotos e 28,6% (16/56) heterozigotos. Considerando que, 56,6% (43/76) dos cavalos no grupo HPIE eram homozigotos, 39,5% (31/76) heterozigotos. 100% (56/56) dos cavalos no grupo de controle eram do tipo selvagem para a mutação g.291A>T. Da mesma forma, 96,1% (74/76) dos cavalos EIPH eram do tipo selvagem para esta mutação. Enquanto isso, para a mutação g.464G>A no gene ENTPD2, os resultados mostraram que 15,6% (7/45) eram heterozigotos, e nenhum animal homozigoto foi encontrado neste grupo. No grupo HPIE, havia 1,5% (1/68) de homozigotos e 23,5% (16/58) de heterozigotos. Não houve diferença estatística entre os grupos. Os resultados deste estudo indicam que não há associação entre essas mutações e HPIE na raça estudada.
Exercise-induced pulmonary hemorrhage (EIPH) is characterized by the presence of blood from the lungs in the tracheobronchial tree after intense exercise that affects athletic horses. Despite the high prevalence of EIPH in horses, the primary etiology remains unknown. Studies suggest a possible genetic cause, however the role of mutations in genes related to hemostatic functions that may be involved in this disease is unknown. The aim of this study was to investigate the association between EIPH and mutations in the genes ENTPD1 (RefSeq: XM_001500628.6) and ENTPD2 (RefSeq: XM_023629424.1), encoding CD39 and CD39L1 enzymes, respectivaly. For this purpose, Thoroughbred horses (n=66) diagnosed with EIPH by tracheobronchoendoscopy were genotyped and a control group composed by 56 Thoroughtbreds without clinical signs of EIPH by tracheobronchoendoscopy were genotyped. Regarding mutations present in the ENTPD1 gene, the percentage of genotypes for the g.290A>G mutation at control group was 66.1% (37/56) homozygotes and 28.6% (16/56) heterozygotes. Whereas, 56.6% (43/76) of horses in EIPH group were homozygotes, 39.5% (31/76) heterozygotes. 100% (56/56) of horses in control group were wild type for g.291A>T mutation. Similarly, 96.1% (74/76) of EIPH horses were wild type for this mutation. Meanwhile, for the g.464G>A mutation at ENTPD2 gene, the results showed that 15.6% (7/45) were heterozygous, and no homozygous animals were found in this group. In theHPIE group, there was 1.5% (1/68) of homozygotes and 23.5% (16/58) of heterozygotes. There was no statistical difference between groups for any of the mutations. The results of this study lead to a lack of association between these mutations and EIPH in the studied breed.
Exercise-induced pulmonary hemorrhage (EIPH) is characterized by the presence of blood from the lungs in the tracheobronchial tree after intense exercise that affects athletic horses. Despite the high prevalence of EIPH in horses, the primary etiology remains unknown. Studies suggest a possible genetic cause, however the role of mutations in genes related to hemostatic functions that may be involved in this disease is unknown. The aim of this study was to investigate the association between EIPH and mutations in the genes ENTPD1 (RefSeq: XM_001500628.6) and ENTPD2 (RefSeq: XM_023629424.1), encoding CD39 and CD39L1 enzymes, respectivaly. For this purpose, Thoroughbred horses (n=66) diagnosed with EIPH by tracheobronchoendoscopy were genotyped and a control group composed by 56 Thoroughtbreds without clinical signs of EIPH by tracheobronchoendoscopy were genotyped. Regarding mutations present in the ENTPD1 gene, the percentage of genotypes for the g.290A>G mutation at control group was 66.1% (37/56) homozygotes and 28.6% (16/56) heterozygotes. Whereas, 56.6% (43/76) of horses in EIPH group were homozygotes, 39.5% (31/76) heterozygotes. 100% (56/56) of horses in control group were wild type for g.291A>T mutation. Similarly, 96.1% (74/76) of EIPH horses were wild type for this mutation. Meanwhile, for the g.464G>A mutation at ENTPD2 gene, the results showed that 15.6% (7/45) were heterozygous, and no homozygous animals were found in this group. In theHPIE group, there was 1.5% (1/68) of homozygotes and 23.5% (16/58) of heterozygotes. There was no statistical difference between groups for any of the mutations. The results of this study lead to a lack of association between these mutations and EIPH in the studied breed.
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Palavras-chave
Doença genética, Epistaxe, HPIE, Hemostasia, Equino, Manifestações pulmonares de doenças, Hemorragia