Genome-wide association studies for multiple diseases of the German Shepherd Dog.
Genome-wide association studies for multiple diseases of the German Shepherd Dog.
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DOI：
10.1007/s00335-011-9376-9
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发表时间：
2012-02
期刊：
影响因子：
2.5
通讯作者：
Clark, Leigh Anne
中科院分区：
文献类型：
--
作者：
Tsai, Kate L.;Noorai, Rooksana E.;Starr-Moss, Alison N.;Quignon, Pascale;Rinz, Caitlin J.;Ostrander, Elaine A.;Steiner, Joerg M.;Murphy, Keith E.;Clark, Leigh Anne
德国牧羊犬（GSD）是一种受欢迎的工作和伴侣犬种，已记录了50多种遗传性疾病。在此，使用Affyanv2犬SNP阵列生成197个GSD的SNP谱，用于全基因组关联研究，以鉴定与四种疾病相关的基因座：垂体性侏儒症、退行性脊髓病（DM）、先天性巨食道症（ME）和胰腺腺泡萎缩（PAA）。Chr 9上的一个位点与垂体性侏儒症密切相关，并且与一个可能的候选基因LHX 3接近。DM的结果证实了一个包含SOD1的主要基因座，其中先前确定了相关的点突变，但不建议修饰基因座。Chr 12上的几个SNP与ME相关，并且在受影响的犬中存在4.7 Mb单倍型块。对单倍型内SNP的额外ME病例的分析为这种关联提供了进一步的支持。PAA的结果表明更复杂的遗传基础。多条染色体上的几个区域达到全基因组意义。然而，没有主要的基因座是明显的，只有两个相关的单倍型块，在Chrs 7和12观察。这些数据表明，PAA可能是由多个基因座与小的影响，或者它可能是一个异质性疾病。
The German Shepherd Dog (GSD) is a popular working and companion breed for which over 50 hereditary diseases have been documented. Herein, SNP profiles for 197 GSDs were generated using the Affymetrix v2 canine SNP array for a genome-wide association study to identify loci associated with four diseases: pituitary dwarfism, degenerative myelopathy (DM), congenital megaesophagus (ME), and pancreatic acinar atrophy (PAA). A locus on Chr 9 is strongly associated with pituitary dwarfism and is proximal to a plausible candidate gene, LHX3. Results for DM confirm a major locus encompassing SOD1, in which an associated point mutation was previously identified, but do not suggest modifier loci. Several SNPs on Chr 12 are associated with ME and a 4.7 Mb haplotype block is present in affected dogs. Analysis of additional ME cases for a SNP within the haplotype provides further support for this association. Results for PAA indicate more complex genetic underpinnings. Several regions on multiple chromosomes reach genome-wide significance. However, no major locus is apparent and only two associated haplotype blocks, on Chrs 7 and 12 are observed. These data suggest that PAA may be governed by multiple loci with small effects, or it may be a heterogeneous disorder.
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影响因子：
6.1
作者：
Gill, Jennifer L.;Tsai, Kate L.;Krey, Christa;Noorai, Rooksana E.;Vanbellinghen, Jean-Francois;Garosi, Laurent S.;Shelton, G. Diane;Clark, Leigh Anne;Harvey, Robert J.
通讯作者：
Harvey, Robert J.
DOI：
10.1073/pnas.92.7.2720
发表时间：
1995-03-28
影响因子：
11.1
作者：
BACH, I;RHODES, SJ;ROSENFELD, MG
通讯作者：
ROSENFELD, MG
影响因子：
4.5
作者：
Drögemüller C;Becker D;Brunner A;Haase B;Kircher P;Seeliger F;Fehr M;Baumann U;Lindblad-Toh K;Leeb T
通讯作者：
Leeb T
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y
影响因子：
2.6
作者：
Coates, Joan R.;March, Philip A.;Williams, David A.
通讯作者：
Williams, David A.