Several genomic regions potentially containing QTLs for bone size variation were identified in a whole-genome linkage scan

Hong Wen Deng, Hui Shen, Fu Hua Xu, Hongyi Deng, Theresa Conway, Yong Jun Liu, Yao Zhong Liu, Jin Long Li, Qing Yang Huang, K. M. Davies, Robert R. Recker

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Bone size is an important determinant of osteoporotic fractures. For a sample of 53 pedigrees that contains more than 10,000 relative pairs informative for linkage analyses, we performed a whole-genome linkage scan using 380 microsatellite markers to identify genomic regions that may contain QTLs of bone size (two-dimensional measurement by dual energy X-ray absorptiometry). We conducted two- and multi-point linkage analyses. Several potentially important genomic regions were identified. For example, the genomic region 17q23 may contain a QTL for wrist (ultra distal) bone size variation; a LOD score of 3.98 is achieved at D17S787 in two-point analyses and a maximum LOD score (MLS) of 3.01 is achieved in multi-point analyses in 17q23. 19p13 may contain a QTL for hip bone size variation; a LOD score of 1.99 is achieved at D19S226 in two-point analyses and a MLS of 2.83 is achieved in 19p13 in multi-point analyses. The genomic region identified on chromosome 17 for wrist bone size seems to be consistent with that identified for femur head width variation in an earlier whole-genome scan study. The genomic regions identified in this study and an earlier investigation on one-dimensional bone size measurement by radiography are compared. The two studies may form a basis for further exploration with larger samples and/or denser markers for confirmation and fine mapping studies to eventually identify major functional genes and the associated causes for osteoporosis.

Original languageEnglish
Pages (from-to)121-131
Number of pages11
JournalAmerican Journal of Medical Genetics
Volume119 A
Issue number2
StatePublished - Jun 1 2003

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Genome
Bone and Bones
Wrist
Femur Head
Pelvic Bones
Chromosomes, Human, Pair 17
Osteoporotic Fractures
Photon Absorptiometry
Pedigree
Radiography
Microsatellite Repeats
Osteoporosis
Genes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Several genomic regions potentially containing QTLs for bone size variation were identified in a whole-genome linkage scan. / Deng, Hong Wen; Shen, Hui; Xu, Fu Hua; Deng, Hongyi; Conway, Theresa; Liu, Yong Jun; Liu, Yao Zhong; Li, Jin Long; Huang, Qing Yang; Davies, K. M.; Recker, Robert R.

In: American Journal of Medical Genetics, Vol. 119 A, No. 2, 01.06.2003, p. 121-131.

Research output: Contribution to journalArticle

Deng, HW, Shen, H, Xu, FH, Deng, H, Conway, T, Liu, YJ, Liu, YZ, Li, JL, Huang, QY, Davies, KM & Recker, RR 2003, 'Several genomic regions potentially containing QTLs for bone size variation were identified in a whole-genome linkage scan', American Journal of Medical Genetics, vol. 119 A, no. 2, pp. 121-131.
Deng, Hong Wen ; Shen, Hui ; Xu, Fu Hua ; Deng, Hongyi ; Conway, Theresa ; Liu, Yong Jun ; Liu, Yao Zhong ; Li, Jin Long ; Huang, Qing Yang ; Davies, K. M. ; Recker, Robert R. / Several genomic regions potentially containing QTLs for bone size variation were identified in a whole-genome linkage scan. In: American Journal of Medical Genetics. 2003 ; Vol. 119 A, No. 2. pp. 121-131.
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