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A genome-wide scan for loci linked to forearm bone mineral density

Academic Article
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Overview

authors

  • Niu, T. H.
  • Chen, C. Z.
  • Cordell, H.
  • Yang, J. H.
  • Wang, B. Y.
  • Wang, Z. X.
  • Fang, Z.
  • Schork, Nicholas
  • Rosen, C. J.
  • Xu, X. P.

publication date

  • March 1999

journal

  • Human Genetics  Journal

abstract

  • Osteoporosis is a chronic disorder characterized by low bone mass and fragility fractures. It affects more than 25 million men and women in the United States alone. Although several candidate genes, such as the vitamin-D-receptor gene or the estrogen-receptor gene, have been suggested in the pathogenesis of osteoporosis, the genetic dissection of this disorder remains a daunting task. To search systematically for chromosomal regions containing genes that regulate bone mineral density (BMD), we scanned the entire autosomal genome by using 367 polymorphic markers among 218 individuals (153 sibpairs) from 96 nuclear families collected from three townships of Anqing, China. In these 96 families, DNA samples from both parents were available for 82 (85.4%) families. By using age- and gender-adjusted forearm BMD measurements, a peak on chromosome 2 near D2S2141, D2S1400, and D2S405, a region previously linked to spinal BMD, showed evidence of linkage to both proximal and distal forearm BMD (multipoint LOD=2.15 and 2.14 for proximal and distal forearm BMD, respectively). One region on chromosome 13 (multipoint LOD=1.67) in the proximity of D13S788 and D13S800 showed evidence of linkage to distal forearm BMD only. Possible candidate genes included CALM2 (calmodulin 2) at 2p21.3-p21.1, a putative STK (serine/threonine kinase) at 2p23-24, POMC (pro-opiomelanocortin) at 2p23.3, and COL4A1 and COL4A2 (collagen IV alpha-1 and alpha-2 subunits) at 13q34. Because of the limited sample size, the suggestive evidence of linkage of this study should be considered as tentative and needs to be replicated in other larger populations.

subject areas

  • Adolescent
  • Adult
  • Blood Pressure
  • Bone Density
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 2
  • Female
  • Forearm
  • Genetic Linkage
  • Genetic Markers
  • Genome, Human
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Osteoporosis
  • Systole
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Identity

International Standard Serial Number (ISSN)

  • 0340-6717

Digital Object Identifier (DOI)

  • 10.1007/s004390050940

PubMed ID

  • 10323246
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Additional Document Info

start page

  • 226

end page

  • 233

volume

  • 104

issue

  • 3

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