Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk.
Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk.
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DOI：
10.1371/journal.pone.0074372
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Mizuki N
中科院分区：
文献类型：
--
作者：
Kanemaki N;Tchedre KT;Imayasu M;Kawarai S;Sakaguchi M;Yoshino A;Itoh N;Meguro A;Mizuki N
青光眼是一种与眼内压升高相关的退行性视神经病变。原发性开角型青光眼是犬中最常见的青光眼类型，其在犬品种中的发病率最高，其次是Shih-Tzus。这些品种是已知有一个异常的虹膜角膜角和发育不良prectinate韧带。然而，这些狗的遗传和遗传背景尚未明确。在这项研究中，我们调查了青光眼候选基因，SRBD 1，ADAMTS 10，和ADAMTS 15的多态性之间的关联，在柴犬和西施犬青光眼。我们使用直接DNA测序分析了这三个基因的11个多态性。3个SRBD 1单核苷酸多态性rs 8655283、rs 22018514和rs 22018513与Shiba-Inus的青光眼显著相关，而rs 22018513（外显子4的同义单核苷酸多态性）显示出最强的相关性（P = 0.00039，OR = 3.03）。 条件分析显示，rs 22018513可以解释这些SNPs与Shiba-Inus青光眼的大部分关联。在西施犬中，只有SRBD 1内含子1中的rs 9172407与青光眼显著相关（P = 0.0014，OR = 5.25）。 在柴犬和西施犬中，ADAMTS 10和ADAMTS 5基因多态性与青光眼之间没有显著相关性。结果表明，SRBD 1基因多态性在柴犬和西施犬的青光眼病理中起重要作用。SRBD 1多态性也与人类正常和高血压脑胶质瘤有关。因此，SRBD 1可能是人和狗青光眼的共同易感基因。我们预计，这项研究的核苷酸测序数据可用于基因检测，以首次高精度地确定犬青光眼的遗传状态和易感性。此外，由SRBD 1多态性导致的犬青光眼可能是研究人类青光眼的有用动物模型。
Glaucoma is a degenerative optic neuropathy that is associated with elevated intraocular pressure. Primary open angle glaucoma is the most common type of glaucoma in canines, and its highest incidence among dog breeds has been reported in Shiba-Inus, followed by Shih-Tzus. These breeds are known to have an abnormal iridocorneal angle and dysplastic prectinate ligament. However, the hereditary and genetic backgrounds of these dogs have not yet been clarified. In this study, we investigated the association between polymorphisms of the glaucoma candidate genes, SRBD1, ELOVL5, and ADAMTS10, and glaucoma in Shiba-Inus and Shih-Tzus. We analyzed 11 polymorphisms in these three genes using direct DNA sequencing. Three SRBD1 SNPs, rs8655283, rs22018514 and rs22018513 were significantly associated with glaucoma in Shiba-Inus, while rs22018513, a synonymous SNP in exon 4, showed the strongest association (P = 0.00039, OR = 3.03). Conditional analysis revealed that rs22018513 could account for most of the association of these SNPs with glaucoma in Shiba-Inus. In Shih-Tzus, only rs9172407 in the SRBD1 intron 1 was significantly associated with glaucoma (P = 0.0014, OR = 5.25). There were no significant associations between the ELOVL5 or ADAMTS10 polymorphisms and glaucoma in Shiba-Inus and Shih-Tzus. The results showed that SRBD1 polymorphisms play an important role in glaucoma pathology in both Shiba-Inus and Shih-Tzus. SRBD1 polymorphisms have also been associated with normal- and high-tension glaucomas in humans. Therefore, SRBD1 may be a common susceptibility gene for glaucoma in humans and dogs. We anticipate that the nucleotide sequencing data from this study can be used in genetic testing to determine for the first time, the genetic status and susceptibility of glaucoma in dogs, with high precision. Moreover, canine glaucoma resulting from SRBD1 polymorphisms could be a useful animal model to study human glaucoma.
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影响因子：
13.7
作者：
Meguro, Akira;Inoko, Hidetoshi;Inoko, Hidetoshi
通讯作者：
Inoko, Hidetoshi
DOI：
10.1016/s0091-0279(78)50033-6
发表时间：
1978-01-01
期刊：
VETERINARY CLINICS OF NORTH AMERICA
影响因子：
--
作者：
MARTIN, CL;WYMAN, M
通讯作者：
WYMAN, M
影响因子：
4.5
作者：
Kuchtey J;Olson LM;Rinkoski T;Mackay EO;Iverson TM;Gelatt KN;Haines JL;Kuchtey RW
通讯作者：
Kuchtey RW
影响因子：
6.5
作者：
Moon, Young-Ah;Hammer, Robert E.;Horton, Jay D.
通讯作者：
Horton, Jay D.
影响因子：
4.4
作者：
Kuchtey, John;Kunkel, Jessica;Kuchtey, Rachel W.
通讯作者：
Kuchtey, Rachel W.