A whole-genome linkage scan suggests several genomic regions potentially containing quantitative trait Loci for osteoporosis.
Osteoporosis is an important health problem, particularly in the elderly women. Bone mineral density (BMD) is a major determinant of osteoporosis. For a sample of 53 pedigrees that contain 1249 sibling pairs, 1098 grandparent-grandchildren pairs, and 2589 first cousin pairs, we performed a whole- genome linkage scan using 380 microsatellite markers to identify genomic regions that may contain quantitative trait loci (QTL) of BMD. Each pedigree was ascertained through a proband with BMD values belonging to the bottom 10% of the population. We conducted two-point and multipoint linkage analyses. Several potentially important genomic regions were suggested. For example, the genomic region near the marker D10S1651 may contain a QTL for hip BMD variation (with two-point analysis LOD score of 1.97 and multipoint analysis LOD score of 2.29). The genomic regions near the markers D4S413 and D12S1723 may contain QTLs for spine BMD variation (with two-point analysis LOD score of 2.12 and 2.17 and multipoint analysis LOD score of 3.08 and 2.96, respectively). The genomic regions identified in this and some earlier reports are compared for exploration in extension studies with larger samples and/or denser markers for confirmation and fine mapping to eventually identify major functional genes involved in osteoporosis.
Deng
Hong-Wen
HW
Osteoporosis Research Center, Department of Biomedical Sciences, Creighton University, 601 North 30th Street, Omaha, Nebraska 68131, USA. deng@creighton.edu
Xu
Fu-Hua
FH
Huang
Qing-Yang
QY
Shen
Hui
H
Deng
Hongyi
H
Conway
Theresa
T
Liu
Yong-Jun
YJ
Liu
Yao-Zhong
YZ
Li
Jin-Long
JL
Zhang
Hai-Tao
HT
Davies
K M
KM
Recker
Robert R
RR
D015519:Bone Density / Q000235:genetics; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005269:Femur; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010024:Osteoporosis / Q000235:genetics*; D010375:Pedigree; D040641:Quantitative Trait Loci; D013131:Spine