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 language | English |
|---|---|
| Pages (from-to) | 326-331 |
| Number of pages | 6 |
| Journal | Physiological Genomics |
| Volume | 17 |
| DOIs | |
| State | Published - Jul 2004 |
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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 journal › Article
}
TY - JOUR
T1 - Genome scan for QTLs underlying bone size variation at 10 refined skeletal sites
T2 - Genetic heterogeneity and the significance of phenotype refinement
AU - Huang, Qing Yang
AU - Xu, Fu Hua
AU - Shen, Hui
AU - Deng, Hong Yi
AU - Conway, Theresa
AU - Liu, Yong Jun
AU - Liu, Yao Zhong
AU - Li, Jin Long
AU - Li, Miao Xin
AU - Davies, K. Michael
AU - Recker, Robert R.
AU - Deng, Hong Wen
PY - 2004/7
Y1 - 2004/7
N2 - 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.
AB - 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.
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U2 - 10.1152/physiolgenomics.00161.2002
DO - 10.1152/physiolgenomics.00161.2002
M3 - Article
VL - 17
SP - 326
EP - 331
JO - Physiological Genomics
JF - Physiological Genomics
SN - 1094-8341
ER -