Genome scan for QTLs underlying bone size variation at 10 refined skeletal sites: Genetic heterogeneity and the significance of phenotype refinement

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

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

To identify quantitative trait loci (QTLs) underlying variation in bone size, we conducted a whole-genome linkage scan in 53 pedigrees with 630 subjects using 380 microsatellite markers. Lumbar area 1, 2, 3, and 4 at the spine, femoral neck, trochanter, intertrochanter areas at the hip, ultradistal, mid-distal, and one-third distal areas at the wrist were measured by dual-energy X-ray absorptiometry (DXA), and adjusted for age, height, weight, and sex. Two-point and multipoint linkage analyses were performed for skeletal bone size at each site and their composite measurements using the SOLAR package. Two chromosomal regions (1q22 and 10q21) were identified with significant evidence of linkage (LOD > 4.32) to one-third distal area, and three were identified with suggestive evidence of linkage (LOD > 2.93) to bone size in one skeletal site. Our results indicated that the low power of QTLs mapping for composite phenotypic measurements may result from genetic heterogeneity of complex traits.

Original languageEnglish
Pages (from-to)326-331
Number of pages6
JournalPhysiological Genomics
Volume17
DOIs
StatePublished - Jul 2004

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Genetic Heterogeneity
Quantitative Trait Loci
Genome
Phenotype
Bone and Bones
Femur Neck
Photon Absorptiometry
Pedigree
Wrist
Microsatellite Repeats
Femur
Hip
Spine
Weights and Measures

All Science Journal Classification (ASJC) codes

  • Physiology
  • Genetics

Cite this

Genome scan for QTLs underlying bone size variation at 10 refined skeletal sites : Genetic heterogeneity and the significance of phenotype refinement. / Huang, Qing Yang; Xu, Fu Hua; Shen, Hui; Deng, Hong Yi; Conway, Theresa; Liu, Yong Jun; Liu, Yao Zhong; Li, Jin Long; Li, Miao Xin; Davies, K. Michael; Recker, Robert R.; Deng, Hong Wen.

In: Physiological Genomics, Vol. 17, 07.2004, p. 326-331.

Research output: Contribution to journalArticle

Huang, Qing Yang ; Xu, Fu Hua ; Shen, Hui ; Deng, Hong Yi ; Conway, Theresa ; Liu, Yong Jun ; Liu, Yao Zhong ; Li, Jin Long ; Li, Miao Xin ; Davies, K. Michael ; Recker, Robert R. ; Deng, Hong Wen. / Genome scan for QTLs underlying bone size variation at 10 refined skeletal sites : Genetic heterogeneity and the significance of phenotype refinement. In: Physiological Genomics. 2004 ; Vol. 17. pp. 326-331.
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