Molecular Genetic Studies of Gene Identification for Osteoporosis: A 2004 Update

Liu, Yong Jun; Shen, Hui; Xiao, Peng; Xiong, Dong Hai; Li, Li Hua; Recker, Robert R.; Deng, Hong−Wen

doi:10.1359/jbmr.051002

Cited by 103 publications

(82 citation statements)

References 381 publications

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“…Many whole genome linkage scans have also been performed, with QTLs reported at a number of chromosomal regions, though specific QTLs have rarely been replicated across studies [5][6][7]28,[31][32][33][34][35][36], probably due, in part, to genetic heterogeneity among the populations studied. Analyses of BMD data from these previous studies, however, cannot adequately distinguish between loci affecting loss of BMD with age and those affecting the acquisition of peak bone mass occurring in young adulthood.…”

Section: Discussionmentioning

confidence: 99%

Genetic influences on bone loss in the San Antonio Family Osteoporosis study

et al. 2008

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Section: Discussionmentioning

confidence: 99%

Genetic influences on bone loss in the San Antonio Family Osteoporosis study

et al. 2008

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“…Linkage studies have identified several loci associated with OP across every human chromosome. More than 200 candidate genes influencing the disease have already been reported (2,3), but the exact genetic background and the interactions among suspected genes as well as genes and environmental or lifestyle factors (4) are still poorly understood (5). Previous studies have also shown that genetic influences can differ among distinct populations and between genders (6)(7)(8).…”

Section: Introductionmentioning

confidence: 99%

Single nucleotide polymorphisms in new candidate genes are associated with bone mineral density and fracture risk

Lazáry

Kósa

Tobiás

et al. 2008

European Journal of Endocrinology

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Objective: Osteoporosis (OP) is a multifactorial disease with high heritability but its exact genetic background is still poorly understood. We examined the effect of 24 single nucleotide polymorphisms (SNPs) located in five genes -alkaline phosphatase, matrix metalloproteinase-2, tissue inhibitor of metalloproteases-2 (TIMP2), fibroblast growth factor receptor-1 (FGFR1), and fatty acid-binding protein-3 (FABP3) -previously not associated with OP. Design: We performed a genotype-phenotype association study at a university hospital. Methods: A total of 360 Hungarian postmenopausal women were involved in the study. Bone mineral density (BMD) was determined at spine, hip, and distal radius. Genomic DNA was extracted from venous blood samples and a high-throughput genotyping method based on single-based primer extension was applied for allelic discrimination. Robust statistical tools were utilized for multiplex data analysis. Results: SNP rs6996321 in FGFR1 was significantly related to spine BMD (PZ0.002) and rs10914367 in FABP3 was associated with hip BMD (PZ0.028). Non-vertebral fracture risk was significantly increased in carriers of ' A' allele of rs9900972 in TIMP2 (odds ratioZ2.06, PZ0.0187). We could also identify validated gene-gene interactions significantly affecting BMD and fracture risk. Conclusions: We identified two previously unreported SNPs in FGFR1 and FABP3 associated with BMD and a third SNP in TIMP2 related to risk for non-vertebral osteoporotic fractures. This is the first report about the association between these allelic variants and the phenotypes of postmenopausal OP. Further studies need to clarify the role of these genes and their polymorphisms in the process of bone loss.

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“…Numerous population genetic studies have provided evidence of an association between ESR1 polymorphisms and osteoporotic risk (Liu et al, 2006). A mutant ESR1 gene has been found to result in reduced BMD in humans (Smith et al, 1994) and mice (Delhon et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

Screening and functional microarray analysis of differentially expressed genes related to osteoporosis

Chen¹,

Xia²

2014

Genet. Mol. Res.

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ABSTRACT. We searched for key genes that could accurately predict bone mineral density. The gene expression profile GSE7429 was downloaded from the Gene Expression Omnibus database, which includes 20 samples, 10 with high and 10 with low bone mineral density. The differentially expressed genes (DEGs) were identified with packages in R language. Further, BLASTX was used to obtain COG function classifications of all the DEGs. The GOTM software was used to find DEGs enriched modules. The functions of genes in the modules was also predicted with the software GENECODIS. Three hundred and three genes were identified as DEGs by comparing high and low bone mineral density samples; the selected genes were mapped to 14 modules collected in PPID. Genes VDR, ESR1, and NRIP1, located in the same module, were significantly enriched in intracellular receptor-mediated signaling biological processes. We conclude that the genes VDR, ESR1, NRIP1 in B cells have a close relationship with bone mineral density. The expression patterns of these genes could be used to determine osteoprotegerin function and for early diagnosis and prevention of low bone mineral density.

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Molecular Genetic Studies of Gene Identification for Osteoporosis: A 2004 Update

Cited by 103 publications

References 381 publications

Genetic influences on bone loss in the San Antonio Family Osteoporosis study

Genetic influences on bone loss in the San Antonio Family Osteoporosis study

Single nucleotide polymorphisms in new candidate genes are associated with bone mineral density and fracture risk

Screening and functional microarray analysis of differentially expressed genes related to osteoporosis

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