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PubMed2006

A genomewide scan for quantitative trait loci underlying areal bone size variation in 451 Caucasian families.

BACKGROUND: Bone size is an important determinant of bone strength and is under strong genetic control. OBJECTIVE: To identify quantitative trait loci (QTL) for areal bone size variation, a large-scale genomewide linkage scan was carried out in 451 Caucasian families. PARTICIPANTS AND METHODS: Of 4124 people with phenotypes, 3899 were genotyped with 410 microsatellite markers. Multipoint linkage analyses were carried out in the entire sample, as well as in men and women separately. Potential epistatic interactions between identified genomic regions were also assessed. RESULTS: Several potentially important genomic regions were identified, such as 8q24 for hip bone size (logarithm of the ratio of the odds that two loci are linked (LOD) 3.27) and 2p24 (LOD 2.04) for spine bone size. 8q24 may also interact with 19p13 to affect hip bone size. Several sex-specific QTL were also detected, such as 14q21 (LOD 2.94) for wrist bone size in women and 16q12 (LOD 2.19) for hip bone size in men. CONCLUSIONS: Together with previous findings, this study has further delineated the genetic basis of bone size and laid a foundation for future studies to eventually elucidate the mechanisms of bone size regulation and associated fracture risks.

Adult↗

PubMed2006

JADE: a distributed Java application for deleterious genomic mutation (DGM) estimation.

SUMMARY: The characterization of deleterious genomic mutation (DGM) is of central significance for evolutionary biology and genetic studies. Fitness moment method has been developed to efficiently characterize DGM from natural population directly. In order to enable researchers to employ this method for theoretical and empirical research on characterizing DGM, we here present a distributed Java Application for DGM Estimation (JADE). AVAILABILITY: http://orclinux.creighton.edu/DGM/index.htm.

Biological Evolution↗

PubMed2006

Relationship of total body fatness and five anthropometric indices in Chinese aged 20-40 years: different effects of age and gender.

OBJECTIVES: We aim to evaluate the ethnic-specific relationship of total fat mass and anthropometric indices in Chinese. DESIGN: Cross-section study. SETTING: This study was performed at the College of Life Sciences, Hunan Normal University, P.R. China. SUBJECTS AND METHOD: To increase our understanding of the relationship of total fat mass and anthropometric indices in Chinese, 793 females and 1091 males aged 20-40 years were randomly recruited from Changsha city of P. R. China. Hip circumference (HC) and waist circumference (WC) were measured using standardized equipments, and other three anthropometric indices of body mass index (BMI), waist-to-hip ratio (WHR), and conicity index (CI) were calculated using weight, height, HC and WC. Total body fatness (TBF) in kg was measured using a Hologic QDR 4500 W dual-energy X-ray absorptiometry (DEXA) scanner. RESULTS: There was an increasing trend of TBF, %TBF (percent total body fatness) and the five anthropometric indices in successively older age groups. Compared with females, males generally had high average BMI, WC, HC, WHR and CI, but had low average TBF and %TBF. Except for some correlations in 25-29 years age groups, TBF and %TBF were significantly correlated with five anthropometric indices with the Pearson's correlation coefficients ranging from 0.07 to 0.87. Principal component analysis (PCA) was performed to form four principal components (PCs) that interpreted over 99% of the total variation of the five related anthropometric indices in all age groups, with over 53% of the total variation accounted for by the PC1. Multiple regression analyses showed that four PCs combined explained a greater variance (R (2)=55.2-80.8%) in TBF than did BMI alone (R (2)=40-74.9%). CONCLUSION: Our results suggest that there is an increasing trend of total fat mass and five anthropometric indices with aging; that age and sex have the important effects on influencing the correlations of TBF and the studied anthropometric indices; and that the accuracy of predicting the TBF using five anthropometric indices is higher than using BMI alone.

Absorptiometry, Photon↗