- Bone mineral density
Background: Chromosome 11q has not only been found to contain mutations responsible for the several Mendelian disorders of the skeleton, but it has also been linked to bone mineral density (BMD) variation in several genome-wide linkage studies. Furthermore, quantitative trait loci (QTL) affecting BMD in inbred mice and baboons have been mapped to a region syntenic to human chromosome 11q. The aim of the present study is to determine whether there is a QTL for BMD variation on chromosome 11q in the Chinese population. Methods: Nineteen microsatellite markers were genotyped for a 75 cM region on 11q13-25 in 306 Chinese families with 1,459 subjects. BMD (g/cm2) was measured by DXA. Linkage analyses were performed using the variance component linkage analysis method implemented in Merlin software. Results: For women, a maximum LOD score of 1.62 was achieved at 90.8 cM on 11q21 near the marker D11S4175 for femoral neck BMD; LOD scores greater than 1.0 were observed on 11q13 for trochanter BMD. For men, a maximum LOD score of 1.57 was achieved at 135.8 cM on 11q24 near the marker D11S4126 for total hip BMD. Conclusion: We have not only replicated the previous linkage finding on chromosome 11q but also identified two sex-specific QTL that contribute to BMD variation in Chinese women and men.
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Annie W.C. Kung, MD
Department of Medicine
The University of Hong Kong
Hong Kong, SAR (China)
Tel. +852 2855 4769, Fax +852 2816 2187, E-Mail email@example.com
The authors have no conflicts of interest.
Received: March 17, 2006
Accepted after revision: June 7, 2006
Published online: August 21, 2006
Number of Print Pages : 7
Number of Figures : 1, Number of Tables : 1, Number of References : 38
Human Heredity (International Journal of Human and Medical Genetics)
Vol. 61, No. 4, Year 2006 (Cover Date: September 2006)
Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001–5652 (print), 1423–0062 (Online)
For additional information: http://www.karger.com/HHE
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