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Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36

Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on... Osteoporosis is a common condition characterized by reduced skeletal strength and increased susceptibility to fracture. Eight million Americans over the age of 50 have osteoporosis of the femoral neck. The most important risk factor for osteoporosis is low bone mineral density (BMD), and several epidemiological studies have shown the importance of genetic factors in determining variability of BMD. An initial genome screen in seven large pedigrees suggested that a candidate region conferring susceptibility to low BMD of the femoral neck was located on chromosome 1p36. We have now confirmed and extended this finding by analyzing nine microsatellite markers spanning a 40 cM interval across the candidate region in an expanded sample of 42 families. Heritability of femoral neck BMD was estimated as 0.51 ± 0.13 in these families, after accounting for the effects of age, sex, body mass index, height and weight. Variance component linkage analysis yielded a maximum multipoint LOD score of 3.53 for linkage of femoral neck BMD to a quantitative trait locus (QTL) located near marker D1S214. The associated empirical P -value by simulation analysis was equal to 0.0001. The results strongly support the hypothesis that a major QTL controlling femoral neck BMD is located on chromosome 1p36.2–p36.3, and further analysis of candidate genes in this region is warranted. Received June 29, 2001; Revised and Accepted August 13, 2001. « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (2001) 10 (21): 2447-2452. doi: 10.1093/hmg/10.21.2447 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Report Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Devoto, M. Articles by Spotila, L. D. Search for related content PubMed PubMed citation Articles by Devoto, M. Articles by Specchia, C. Articles by Li, H. H. Articles by Caminis, J. Articles by Tenenhouse, A. Articles by Rodriguez, H. Articles by Spotila, L. D. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? 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Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36

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References (38)

Publisher
Oxford University Press
Copyright
Copyright © 2015 Oxford University Press
ISSN
0964-6906
eISSN
1460-2083
DOI
10.1093/hmg/10.21.2447
Publisher site
See Article on Publisher Site

Abstract

Osteoporosis is a common condition characterized by reduced skeletal strength and increased susceptibility to fracture. Eight million Americans over the age of 50 have osteoporosis of the femoral neck. The most important risk factor for osteoporosis is low bone mineral density (BMD), and several epidemiological studies have shown the importance of genetic factors in determining variability of BMD. An initial genome screen in seven large pedigrees suggested that a candidate region conferring susceptibility to low BMD of the femoral neck was located on chromosome 1p36. We have now confirmed and extended this finding by analyzing nine microsatellite markers spanning a 40 cM interval across the candidate region in an expanded sample of 42 families. Heritability of femoral neck BMD was estimated as 0.51 ± 0.13 in these families, after accounting for the effects of age, sex, body mass index, height and weight. Variance component linkage analysis yielded a maximum multipoint LOD score of 3.53 for linkage of femoral neck BMD to a quantitative trait locus (QTL) located near marker D1S214. The associated empirical P -value by simulation analysis was equal to 0.0001. The results strongly support the hypothesis that a major QTL controlling femoral neck BMD is located on chromosome 1p36.2–p36.3, and further analysis of candidate genes in this region is warranted. Received June 29, 2001; Revised and Accepted August 13, 2001. « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (2001) 10 (21): 2447-2452. doi: 10.1093/hmg/10.21.2447 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Report Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Devoto, M. Articles by Spotila, L. D. Search for related content PubMed PubMed citation Articles by Devoto, M. Articles by Specchia, C. Articles by Li, H. H. Articles by Caminis, J. Articles by Tenenhouse, A. Articles by Rodriguez, H. Articles by Spotila, L. D. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue November 15, 2015 24 (22) Alert me to new issues The Journal About this journal Rights & Permissions Dispatch date of the next issue This journal is a member of the Committee on Publication Ethics (COPE) We are mobile – find out more Journals Career Network Impact factor: 6.393 5-Yr impact factor: 6.850 Executive Editors Professor Kay Davies Professor Anthony Wynshaw-Boris Professor Joel Hirschhorn Dr Jeffrey Barrett View full editorial board For Authors Instructions to authors Online submission Submit Now! Self-archiving policy Open access options for authors - visit Oxford Open This journal enables compliance with the NIH Public Access Policy Alerting Services Email table of contents Email Advance Access CiteTrack XML RSS feed Corporate Services Advertising sales Reprints Supplements var taxonomies = ("SCI01140"); Most Most Read Genetics of obesity and the prediction of risk for health Non-coding RNA Telomerase and cancer Ion channel diseases Down syndrome--recent progress and future prospects » View all Most Read articles Most Cited The DNA methyltransferases of mammals Nonsense-Mediated mRNA Decay in Health and Disease Mutation of human short tandem repeats Prediction of deleterious human alleles Isolation of a Candidate Human Telomerase Catalytic Subunit Gene, Which Reveals Complex Splicing Patterns in Different Cell Types » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. Online ISSN 1460-2083 - Print ISSN 0964-6906 Copyright © 2015 Oxford University Press Oxford Journals Oxford University Press Site Map Privacy Policy Cookie Policy Legal Notices Frequently Asked Questions Other Oxford University Press sites: Oxford University Press Oxford Journals China Oxford Journals Japan Academic & Professional books Children's & Schools Books Dictionaries & Reference Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks International Education Unit Law Medicine Music Online Products & Publishing Oxford Bibliographies Online Oxford Dictionaries Online Oxford English Dictionary Oxford Language Dictionaries Online Oxford Scholarship Online Reference Rights and Permissions Resources for Retailers & Wholesalers Resources for the Healthcare Industry Very Short Introductions World's Classics function fnc_onDomLoaded() { var query_context = getQueryContext(); PF_initOIUnderbar(query_context,":QS:default","","JRN"); PF_insertOIUnderbar(0); }; if (window.addEventListener) { window.addEventListener('load', fnc_onDomLoaded, false); } else if (window.attachEvent) { window.attachEvent('onload', fnc_onDomLoaded); } var gaJsHost = (("https:" == document.location.protocol) ? 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Journal

Human Molecular GeneticsOxford University Press

Published: Oct 2, 2001

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