Evidence for major pleiotropic effects on bone size variation from a principal component analysis of 451 Caucasian families View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-06

AUTHORS

Li-jun Tan, Yao-zhong Liu, Peng Xiao, Fang Yang, Zi-hui Tang, Peng-yuan Liu, Robert R Recker, Hong-wen Deng

ABSTRACT

Aim:To identify pleiotropic quantitative trait loci (QTL) influencing bone size (BS) at different skeletal sites in Caucasians.Methods:In a sample containing 3899 Caucasians from 451 pedigrees, 410 microsatellite markers spaced ∼8.9 cM apart across the human genome were genotyped. Phenotypical and genetic correlations of BS at lumbar spine, hip (femoral neck, trochanter, and intertrochanter regions), and wrist (ultradistal, mid-distal, and one-third distal sites) were determined using bivariate quantitative genetic analysis. A principal component analysis (PCA) was performed to obtain principal component (PC) factors that were then subjected to variance components linkage analysis to identify regions linked to the PC.Results:Genetic correlations of BS at different skeletal sites ranged fr om 0.40 to 0.7 9 (P<0.001). The PCA yielded a PC named PCtotal, which explained up to 76% of the total (co)variation of all the BS at the 7 skeletal sites for the whole sample. We identified a QTL influencing the BS of multiple skeletal sites on chromosome 7 at 140 cM [logarithm of odds (LOD)=2.85] in the overall sample. Sex-specific evidence for linkage was observed on chromosome 11 at 53 cM (LOD =2.82) in the male-only data subset.Conclusion:Our study identified several genomic regions that may have pleiotropic effects on different skeletal sites. These regions may contain genes that play a critical role in overall bone development and osteoporosis at multiple skeletal sites, hence are biologically and clinically important. More... »

PAGES

745-751

Identifiers

URI

http://scigraph.springernature.com/pub.10.1111/j.1745-7254.2008.00806.x

DOI

http://dx.doi.org/10.1111/j.1745-7254.2008.00806.x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004911237

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18501122


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