Confirmation of linkage to chromosome 1q for spine bone mineral density in southern Chinese

Chromosome 1q has previously been linked to bone mineral density (BMD) variation in the general population in several genome-wide linkage studies in both humans and mouse model. The aim of present study is to replicate and fine map the QTL influencing BMD in chromosome 1q in southern Chinese. Twelve...

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Bibliographic Details
Published in:Human genetics 2006-10, Vol.120 (3), p.354-359
Main Authors: CHEUNG, Ching-Lung, HUANG, Qing-Yang, NG, Mandy Y. M, CHAN, Vivian, SHAM, Pak C, KUNG, Annie W. C
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Bone Density
China
Chromosomes
Chromosomes, Human, Pair 1
Classical genetics, quantitative genetics, hybrids
Female
Fractures
Fundamental and applied biological sciences. Psychology
Genes
Genetics of eukaryotes. Biological and molecular evolution
Genomes
Human
Humans
Lod Score
Lumbosacral Region - anatomy & histology
Male
Males
Methods, theories and miscellaneous
Middle Aged
Osteoporosis
Spine - anatomy & histology
Spine - physiology
White people
Womens health
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Summary:Chromosome 1q has previously been linked to bone mineral density (BMD) variation in the general population in several genome-wide linkage studies in both humans and mouse model. The aim of present study is to replicate and fine map the QTL influencing BMD in chromosome 1q in southern Chinese. Twelve microsatellite markers were genotyped for a 57 cMu region in the chromosome 1q in 306 southern Chinese families with 1,459 subjects. Each of these families was ascertained through a proband with BMD Z-scores less than -1.3 at the hip or spine. BMD (g/cm2) at the L1-4 lumbar spine, femoral neck (FN), trochanter and total hip was measured by dual-energy X-ray absortiometry. Linkage analyses were performed using the variance component linkage analysis method implemented in Merlin software. Four markers (D1S2878, D1S196, D1S452, and D1S218) achieved a LOD score greater than 1.0 with spine BMD, with the maximum multipoint LOD score of 2.36 at the marker D1S196. We did not detect a LOD score greater than 1.0 for BMD at the FN, trochanter, or total hip in multipoint linkage analyses. Our results present the first evidence for the presence of an osteoporosis susceptibility gene on chromosome 1q in non-Caucasian subjects. Further analyses of candidate genes are warranted to identify QTL genes and variants underlying the variations of BMD in this region.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-006-0220-3