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Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture

BACKGROUND: High blood pressure is a well established risk factor for morbidity and mortality acting through heart disease, stroke and cardiovascular disease. Genome wide scans have linked regions of nearly every human chromosome to blood pressure related traits. We have capitalized on beneficial qu...

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Autores principales: McArdle, Patrick F, Dytch, Harvey, O'Connell, Jeffery R, Shuldiner, Alan R, Mitchell, Braxton D, Abney, Mark
Formato: Texto
Lenguaje:English
Publicado: BioMed Central|1 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2071912/
https://www.ncbi.nlm.nih.gov/pubmed/17908314
http://dx.doi.org/10.1186/1471-2156-8-66
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author McArdle, Patrick F
Dytch, Harvey
O'Connell, Jeffery R
Shuldiner, Alan R
Mitchell, Braxton D
Abney, Mark
author_facet McArdle, Patrick F
Dytch, Harvey
O'Connell, Jeffery R
Shuldiner, Alan R
Mitchell, Braxton D
Abney, Mark
author_sort McArdle, Patrick F
collection PubMed
description BACKGROUND: High blood pressure is a well established risk factor for morbidity and mortality acting through heart disease, stroke and cardiovascular disease. Genome wide scans have linked regions of nearly every human chromosome to blood pressure related traits. We have capitalized on beneficial qualities of the Old Order Amish of Lancaster, PA, a closed founder population with a relatively small number of founders, to perform a genome wide homozygosity by descent mapping scan. Each individual in the study has a non zero probability of consanguinity. Systolic and diastolic blood pressures are shown to have appreciable dominance variance components. RESULTS: Areas of two chromosomes were identified as suggestive of linkage to SBP and 5 areas to DBP in either the overall or sex specific analyses. The strongest evidence for linkage in the overall sample was to Chromosome 18q12 (LOD = 2.6 DBP). Sex specific analyses identified a linkage on Chromosome 4p12-14 (LOD in men only = 3.4 SBP). At Chromosome 2q32-33, an area where we previously reported significant evidence for linkage to DBP using a conventional identity by descent approach, the LOD was 1.4; however an appreciable sex effect was observed with men accounting for most of the linkage (LOD in men only = 2.6). CONCLUSION: These results add evidence to a sex specific genetic architecture to blood pressure related traits, particularly in regions of linkage on chromosome 2, 4 and 18.
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spelling pubmed-20719122007-11-09 Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture McArdle, Patrick F Dytch, Harvey O'Connell, Jeffery R Shuldiner, Alan R Mitchell, Braxton D Abney, Mark BMC Genet Research Article BACKGROUND: High blood pressure is a well established risk factor for morbidity and mortality acting through heart disease, stroke and cardiovascular disease. Genome wide scans have linked regions of nearly every human chromosome to blood pressure related traits. We have capitalized on beneficial qualities of the Old Order Amish of Lancaster, PA, a closed founder population with a relatively small number of founders, to perform a genome wide homozygosity by descent mapping scan. Each individual in the study has a non zero probability of consanguinity. Systolic and diastolic blood pressures are shown to have appreciable dominance variance components. RESULTS: Areas of two chromosomes were identified as suggestive of linkage to SBP and 5 areas to DBP in either the overall or sex specific analyses. The strongest evidence for linkage in the overall sample was to Chromosome 18q12 (LOD = 2.6 DBP). Sex specific analyses identified a linkage on Chromosome 4p12-14 (LOD in men only = 3.4 SBP). At Chromosome 2q32-33, an area where we previously reported significant evidence for linkage to DBP using a conventional identity by descent approach, the LOD was 1.4; however an appreciable sex effect was observed with men accounting for most of the linkage (LOD in men only = 2.6). CONCLUSION: These results add evidence to a sex specific genetic architecture to blood pressure related traits, particularly in regions of linkage on chromosome 2, 4 and 18. BioMed Central|1 2007-10-01 /pmc/articles/PMC2071912/ /pubmed/17908314 http://dx.doi.org/10.1186/1471-2156-8-66 Text en Copyright © 2007 McArdle et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
McArdle, Patrick F
Dytch, Harvey
O'Connell, Jeffery R
Shuldiner, Alan R
Mitchell, Braxton D
Abney, Mark
Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture
title Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture
title_full Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture
title_fullStr Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture
title_full_unstemmed Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture
title_short Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture
title_sort homozygosity by descent mapping of blood pressure in the old order amish: evidence for sex specific genetic architecture
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2071912/
https://www.ncbi.nlm.nih.gov/pubmed/17908314
http://dx.doi.org/10.1186/1471-2156-8-66
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