Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

N Orr; W Back; J Gu; P Leegwater; P Govindarajan; J Conroy; B Ducro; J A M Van Arendonk; D E MacHugh; S Ennis; E W Hill; P A J Brama

doi:10.1111/j.1365-2052.2010.02091.x

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

N Orr
, W Back
, J Gu
, P Leegwater
, P Govindarajan
, J Conroy
, B Ducro
, J A M Van Arendonk
, D E MacHugh
, S Ennis
, E W Hill
, P A J Brama

Research output: Contribution to journal › Article › peer-review

35 Citations (Scopus)

Abstract

The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34,429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P(2df)=4.54 × 10(-5), P(rec)=7.74 × 10(-6)), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.

Original language	English
Pages (from-to)	2-7
Number of pages	6
Journal	Animal Genetics
Volume	41 Suppl 2
DOIs	https://doi.org/10.1111/j.1365-2052.2010.02091.x
Publication status	Published - Dec 2010
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Animals
Dwarfism
Genome-Wide Association Study
Horse Diseases
Horses
Polymorphism, Single Nucleotide
Journal Article
Research Support, Non-U.S. Gov't

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10.1111/j.1365-2052.2010.02091.x

Cite this

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title = "Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses",

abstract = "The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34,429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P(2df)=4.54 × 10(-5), P(rec)=7.74 × 10(-6)), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.",

keywords = "Animals, Dwarfism, Genome-Wide Association Study, Horse Diseases, Horses, Polymorphism, Single Nucleotide, Journal Article, Research Support, Non-U.S. Gov't",

author = "N Orr and W Back and J Gu and P Leegwater and P Govindarajan and J Conroy and B Ducro and \{Van Arendonk\}, \{J A M\} and MacHugh, \{D E\} and S Ennis and Hill, \{E W\} and Brama, \{P A J\}",

note = "{\textcopyright} 2010 The Authors, Journal compilation {\textcopyright} 2010 Stichting International Foundation for Animal Genetics.",

year = "2010",

month = dec,

doi = "10.1111/j.1365-2052.2010.02091.x",

language = "English",

volume = "41 Suppl 2",

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journal = "Animal Genetics",

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publisher = "Wiley-Blackwell",

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TY - JOUR

T1 - Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

AU - Orr, N

AU - Back, W

AU - Gu, J

AU - Leegwater, P

AU - Govindarajan, P

AU - Conroy, J

AU - Ducro, B

AU - Van Arendonk, J A M

AU - MacHugh, D E

AU - Ennis, S

AU - Hill, E W

AU - Brama, P A J

PY - 2010/12

Y1 - 2010/12

N2 - The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34,429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P(2df)=4.54 × 10(-5), P(rec)=7.74 × 10(-6)), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.

AB - The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34,429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P(2df)=4.54 × 10(-5), P(rec)=7.74 × 10(-6)), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.

KW - Animals

KW - Dwarfism

KW - Genome-Wide Association Study

KW - Horse Diseases

KW - Horses

KW - Polymorphism, Single Nucleotide

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1111/j.1365-2052.2010.02091.x

DO - 10.1111/j.1365-2052.2010.02091.x

M3 - Article

C2 - 21070269

SN - 0268-9146

VL - 41 Suppl 2

SP - 2

EP - 7

JO - Animal Genetics

JF - Animal Genetics

ER -

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

Abstract

UN SDGs

Keywords

Access to Document

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