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与伯德梗对称性狼疮甲营养不良相关的新基因座。

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie.

机构信息

Department of Animal Science, University of California, Davis, CA 95616, USA.

Brazilian National Council for Scientific and Technological Development (CNPq) fellow, Brasilia, DF 71605, Brazil.

出版信息

Genes (Basel). 2019 Aug 22;10(9):635. doi: 10.3390/genes10090635.

Abstract

Symmetrical lupoid onychodystrophy (SLO) is characterized by inflammation of the nail bed and nail sloughing that causes affected dogs considerable pain. Disease etiology remains unclear, although an autoimmune component is suspected. A genome-wide association study on Bearded Collies revealed regions of association on canine chromosomes (CFA) 12 and 17. The large region of association on CFA12 likely consists of two smaller linked regions, both of which are also linked to the dog leukocyte antigen (DLA) class II genes. Dogs homozygous for the alternate allele at the top CFA12 SNP also carried two DLA class II risk haplotypes for SLO, and this locus explained most of the increased risk for disease seen throughout the CFA12 region of association. A stronger peak was seen on CFA17 when analysis was done solely on dogs that carried DLA class II risk haplotypes for SLO. The majority of SLO dogs carried a homozygous alternate genotype on CFA12 and at least one CFA17 risk haplotype. Our findings offer progress toward uncovering the genetic basis of SLO. While the contribution of the CFA17 region remains unclear, both CFA12 and CFA17 regions are significantly associated with SLO disease expression in the Bearded Collie and contain potential candidate genes for this disease.

摘要

对称性狼疮样甲营养不良(SLO)的特征是甲床炎症和指甲脱落,这会给受影响的犬只带来相当大的疼痛。尽管怀疑存在自身免疫成分,但疾病的病因仍不清楚。对刚毛牧羊犬的全基因组关联研究揭示了犬染色体(CFA)12 和 17 上的关联区域。CFA12 上的大片关联区域可能由两个较小的连锁区域组成,这两个区域也与犬白细胞抗原(DLA)II 类基因相连。在 CFA12 上的顶级 SNP 处为交替等位基因纯合的犬只也携带 SLO 的两个 DLA II 类风险单倍型,该基因座解释了 CFA12 关联区域中所见疾病风险增加的大部分。当仅对携带 SLO 的 DLA II 类风险单倍型的犬进行分析时,在 CFA17 上观察到更强的峰。大多数 SLO 犬在 CFA12 上携带纯合的交替基因型,并且在 CFA17 上至少携带一个风险单倍型。我们的研究结果为揭示 SLO 的遗传基础提供了进展。虽然 CFA17 区域的贡献仍不清楚,但 CFA12 和 CFA17 区域都与刚毛牧羊犬的 SLO 疾病表达显著相关,并且包含该疾病的潜在候选基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5eb4/6770358/4b27384c838a/genes-10-00635-g001.jpg

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