A second-stage genome scan for QTLs influencing BMD variation

Q. Y. Huang, F. H. Xu, H. Shen, L. J. Zhao, H. Y. Deng, Y. J. Liu, V. Dvomyk, T. Conway, K. M. Davies, J. L. Li, Y. Z. Liu, Robert R. Recker, H. W. Deng

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Abstract

Low bone mineral density (BMD) is a major risk factor for osteoporotic fracture. To identify genomic regions harboring quantitative trait loci (QTLs) contributing to BMD variation, we performed a two-stage genome screen. The first stage involved genotyping of a sample of 53 pedigrees with 630 individuals using 400 microsatellite markers spaced at approximately 10-cM intervals throughout the genome. Ten genomic regions with multi- and/or two-point LOD scores greater than 1.5 were observed. In the present second-stage study, 60 microsatellite markers, with a mean spacing of about 5 cM, were genotyped in these regions in an expanded sample of 79 pedigrees that contained 1816 subjects. Each pedigree was ascertained through a proband with extreme BMD at the hip or spine. BMD at the spine (L1-4), hip (the femoral neck, trochanter, and intertrochanteric region), and wrist (the ultradistal region) was measured by dual-energy X-ray absorptiometry (DXA) and was adjusted for age, sex, height, and weight. Two-point and multipoint linkage analyses were performed for each BMD site using statistical genetic methods that are implemented in the computer package SOLAR. Several regions (7q11, 10q26, 12q13, and 12q24) achieved LOD scores in excess of 1 in the second-stage followup study. The current results replicate some of our previous linkage findings and also highlight some of the difficulties facing microsatellite linkage mapping for complex human diseases.

Original languageEnglish
Pages (from-to)138-143
Number of pages6
JournalCalcified Tissue International
Volume75
Issue number2
DOIs
StatePublished - Aug 2004

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Quantitative Trait Loci
Bone Density
Genome
Pedigree
Microsatellite Repeats
Hip
Spine
Osteoporotic Fractures
Chromosome Mapping
Femur Neck
Photon Absorptiometry
Wrist
Femur
Weights and Measures

All Science Journal Classification (ASJC) codes

  • Endocrinology

Cite this

Huang, Q. Y., Xu, F. H., Shen, H., Zhao, L. J., Deng, H. Y., Liu, Y. J., ... Deng, H. W. (2004). A second-stage genome scan for QTLs influencing BMD variation. Calcified Tissue International, 75(2), 138-143. https://doi.org/10.1007/s00223-004-0088-y

A second-stage genome scan for QTLs influencing BMD variation. / Huang, Q. Y.; Xu, F. H.; Shen, H.; Zhao, L. J.; Deng, H. Y.; Liu, Y. J.; Dvomyk, V.; Conway, T.; Davies, K. M.; Li, J. L.; Liu, Y. Z.; Recker, Robert R.; Deng, H. W.

In: Calcified Tissue International, Vol. 75, No. 2, 08.2004, p. 138-143.

Research output: Contribution to journalArticle

Huang, QY, Xu, FH, Shen, H, Zhao, LJ, Deng, HY, Liu, YJ, Dvomyk, V, Conway, T, Davies, KM, Li, JL, Liu, YZ, Recker, RR & Deng, HW 2004, 'A second-stage genome scan for QTLs influencing BMD variation', Calcified Tissue International, vol. 75, no. 2, pp. 138-143. https://doi.org/10.1007/s00223-004-0088-y
Huang, Q. Y. ; Xu, F. H. ; Shen, H. ; Zhao, L. J. ; Deng, H. Y. ; Liu, Y. J. ; Dvomyk, V. ; Conway, T. ; Davies, K. M. ; Li, J. L. ; Liu, Y. Z. ; Recker, Robert R. ; Deng, H. W. / A second-stage genome scan for QTLs influencing BMD variation. In: Calcified Tissue International. 2004 ; Vol. 75, No. 2. pp. 138-143.
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