Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds

Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral sym...
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Autor*in:	Sabin A. Marquardt [verfasserIn] Callie V. Wilcox [verfasserIn] Erin N. Burns [verfasserIn] Janel A. Peterson [verfasserIn] Carrie J. Finno [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	equine neuroaxonal dystrophy horse vitamin E

Übergeordnetes Werk:	In: Genes - MDPI AG, 2010, 10(2019), 9, p 681
Übergeordnetes Werk:	volume:10 ; year:2019 ; number:9, p 681

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/genes10090681

Katalog-ID:	DOAJ029300126

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520			\|a Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (<i<ADGRL3</i<) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD/EDM confirmed cases and genotype at any of the four identified SNPs (<i<P</i< > 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic <i<P</i< = 0.85). These findings suggest that the four SNPs, including the missense variant in the <i<ADGRL3</i< region, are not associated with risk for eNAD/EDM across multiple breeds of horses.
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allfieldsSound	10.3390/genes10090681 doi (DE-627)DOAJ029300126 (DE-599)DOAJ7590c786d4d54e199477430357e81382 DE-627 ger DE-627 rakwb eng QH426-470 Sabin A. Marquardt verfasserin aut Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (<i<ADGRL3</i<) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD/EDM confirmed cases and genotype at any of the four identified SNPs (<i<P</i< > 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic <i<P</i< = 0.85). These findings suggest that the four SNPs, including the missense variant in the <i<ADGRL3</i< region, are not associated with risk for eNAD/EDM across multiple breeds of horses. equine neuroaxonal dystrophy horse vitamin E Genetics Callie V. Wilcox verfasserin aut Erin N. Burns verfasserin aut Janel A. Peterson verfasserin aut Carrie J. Finno verfasserin aut In Genes MDPI AG, 2010 10(2019), 9, p 681 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:10 year:2019 number:9, p 681 https://doi.org/10.3390/genes10090681 kostenfrei https://doaj.org/article/7590c786d4d54e199477430357e81382 kostenfrei https://www.mdpi.com/2073-4425/10/9/681 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 9, p 681
language	English
source	In Genes 10(2019), 9, p 681 volume:10 year:2019 number:9, p 681
sourceStr	In Genes 10(2019), 9, p 681 volume:10 year:2019 number:9, p 681
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	equine neuroaxonal dystrophy horse vitamin E Genetics
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container_title	Genes
authorswithroles_txt_mv	Sabin A. Marquardt @@aut@@ Callie V. Wilcox @@aut@@ Erin N. Burns @@aut@@ Janel A. Peterson @@aut@@ Carrie J. Finno @@aut@@
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callnumber-first	Q - Science
author	Sabin A. Marquardt
spellingShingle	Sabin A. Marquardt misc QH426-470 misc equine neuroaxonal dystrophy misc horse misc vitamin E misc Genetics Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds
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topic_title	QH426-470 Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds equine neuroaxonal dystrophy horse vitamin E
topic	misc QH426-470 misc equine neuroaxonal dystrophy misc horse misc vitamin E misc Genetics
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title	Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds
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title_full	Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds
author_sort	Sabin A. Marquardt
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author_browse	Sabin A. Marquardt Callie V. Wilcox Erin N. Burns Janel A. Peterson Carrie J. Finno
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title_sort	previously identified genetic variants in <i<adgrl3</i< are not associated with risk for equine degenerative myeloencephalopathy across breeds
callnumber	QH426-470
title_auth	Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds
abstract	Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (<i<ADGRL3</i<) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD/EDM confirmed cases and genotype at any of the four identified SNPs (<i<P</i< > 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic <i<P</i< = 0.85). These findings suggest that the four SNPs, including the missense variant in the <i<ADGRL3</i< region, are not associated with risk for eNAD/EDM across multiple breeds of horses.
abstractGer	Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (<i<ADGRL3</i<) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD/EDM confirmed cases and genotype at any of the four identified SNPs (<i<P</i< > 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic <i<P</i< = 0.85). These findings suggest that the four SNPs, including the missense variant in the <i<ADGRL3</i< region, are not associated with risk for eNAD/EDM across multiple breeds of horses.
abstract_unstemmed	Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (<i<ADGRL3</i<) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD/EDM confirmed cases and genotype at any of the four identified SNPs (<i<P</i< > 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic <i<P</i< = 0.85). These findings suggest that the four SNPs, including the missense variant in the <i<ADGRL3</i< region, are not associated with risk for eNAD/EDM across multiple breeds of horses.
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title_short	Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds
url	https://doi.org/10.3390/genes10090681 https://doaj.org/article/7590c786d4d54e199477430357e81382 https://www.mdpi.com/2073-4425/10/9/681 https://doaj.org/toc/2073-4425
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Previously Identified Genetic Variants in <i<ADGRL3</i< Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds

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