Journal article
First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q (Reprinted from European Journal of Human Genetics, Vol 6, pgs 151-157, 1998)
European journal of human genetics : EJHG, v 25, pp S28-S32
01 May 2017
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Abstract
Osteoporosis is characterized by low bone density, and osteopenia is responsible for 1.5 million fractures in the United States annually.(1) In order to identify regions of the genome which are likely to contain genes predisposing to osteopenia, we genotyped 149 members of seven large pedigrees having recurrence of low bone mineral density (BMD) with 330 DNA markers spread throughout the autosomal genome. Linkage analysis for this quantitative trait was carried out using spine and hip BMD values by the classical lod-score method using a genetic model with parameters estimated from the seven families. In addition, non parametric analysis was performed using the traditional Haseman-Elston approach in 74 independent sib pairs from the same pedigrees. The maximum lod score obtained by parametric analysis in all families combined was +2.08 (theta = 0.05) for the marker CD3D on chromosome 11q. All other combined lod scores from the parametric analysis were less than +1.90, the threshold for suggestive linkage. Non-parametric analysis suggested linkage of low BMD to chromosomes 1p36 (Z(max) = +3.51 for D1S450) and 2p23-24 (Z(max) = +2.07 for D2S149). Maximum multi-point lod scores for these regions were +2.29 and +2.25, respectively. A third region with associated lod scores above the threshold of suggestive linkage in both single-point and multi point non-parametric analysis was on chromosome 4qter (Z(max) = +2.95 for D4S1539 and Z(max) = +2.48 for D4S1554). Our data suggest the existence of multiple genes involved in controlling spine and hip BMD, and indicate several candidate regions for further screening in this and other independent samples.
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- Title
- First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q (Reprinted from European Journal of Human Genetics, Vol 6, pgs 151-157, 1998)
- Creators
- M. Devoto - Rockefeller Univ, Lab Stat Genet, 1230 York Ave, New York, NY 10021 USAK. Shimoya - Thomas Jefferson Univ, Dept Biochem & Mol Biol, Philadelphia, PA 19107 USAJ. Caminis - McGill Bone Ctr, Montreal, PQ, CanadaJ. Ott - Rockefeller UniversityA. Tenenhouse - McGill Bone Ctr, Montreal, PQ, CanadaM. P. Whyte - Washington Univ, Shriners Hosp Children, Sch Med, Metabol Res Unit, St Louis, MO USAL. Sereda - Thomas Jefferson Univ, Dept Biochem & Mol Biol, Philadelphia, PA 19107 USAS. Hall - Thomas Jefferson UniversityE. Considine - Thomas Jefferson Univ, Dept Biochem & Mol Biol, Philadelphia, PA 19107 USAC. J. Williams - Thomas Jefferson UniversityG. Tromp - Thomas Jefferson Univ, Dept Biochem & Mol Biol, Philadelphia, PA 19107 USAH. Kuivaniemi - Thomas Jefferson Univ, Dept Biochem & Mol Biol, Philadelphia, PA 19107 USAL. Ala-Kokko - Allegheny Univ, Med Sch, Ctr Gene Therapy, Philadelphia, PA USAD. J. Prockop - Allegheny Univ, Med Sch, Ctr Gene Therapy, Philadelphia, PA USAL. D. Spotila - Thomas Jefferson Univ, Dept Biochem & Mol Biol, Philadelphia, PA 19107 USA
- Publication Details
- European journal of human genetics : EJHG, v 25, pp S28-S32
- Publisher
- Springer Nature
- Number of pages
- 5
- Grant note
- 15958 / Shriners Hospital for Children K01HG000008 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) AR38188 / National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA Lucille P. Markey Charitable Trust March of Dimes/Birth Defects Foundation; March of Dimes HG00008 / National Human Genome Research Institute; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Steinbright Career Development Center
- Web of Science ID
- WOS:000427342100004
- Other Identifier
- 991019169697104721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Biochemistry & Molecular Biology
- Genetics & Heredity