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1 December 2007 Genetic Determination of Osteoporosis: Lessons Learned from a Large Genome-Wide Linkage Study
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Osteoporosis is a common disease with strong genetic control. We performed an autosomal linkage scan in a large pedigree-based sample of 4,498 subjects for a composite osteoporosis phenotype that combines osteoporotic fracture (OF) and low bone mineral density (BMD). All of the subjects were U.S. Caucasians recruited in the Omaha area of Nebraska. Sex-specific linkage analyses and autosomal imprinting analyses were also conducted. For conventional linkage analyses in the total sample, we identified suggestive linkage on chromosomes 14q32 (LOD = 2.61), 7p14 (LOD = 2.42), and 11q25 (LOD = 2.09). In female subjects a significant linkage signal was detected on chromosome 14q22 (LOD = 3.53) and another two peaks were detected on chromosomes 7p14 (LOD = 3.07) and 9p21 (LOD = 2.29). Suggestive evidence of imprinted loci was found with paternally derived alleles on chromosomes 1q42 (LOD = 2.12) and 9q34 (LOD = 1.88). Some evidence of linkage to maternally derived alleles was found on chromosome 7q22 (LOD= 1.67). Our study provides new clues to osteoporosis genetic research and for the first time suggests that genomic imprinting effects may play a role in the etiology of osteoporosis.

Dong-Hai Xiong, Jin-Tang Wang, Wei Wang, Yan-Fang Guo, Peng Xiao, Hui Shen, Hui Jiang, Yuan Chen, Hongyi Deng, Betty Drees, Robert R. Recker, and Hong-Wen Deng "Genetic Determination of Osteoporosis: Lessons Learned from a Large Genome-Wide Linkage Study," Human Biology 79(6), 593-608, (1 December 2007).
Received: 1 December 2006; Accepted: 1 June 2007; Published: 1 December 2007

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