Gene expression profiling in monocytes and SNP association suggest the importance of the gene for osteoporosis in both Chinese and Caucasians

Xiang Ding Chen, Peng Xiao, Shu Feng Lei, Yao Zhong Liu, Yan Fang Guo, Fei Yan Deng, Li Jun Tan, Xue Zhen Zhu, Fu Rong Chen, Robert R. Recker, Hong Wen Deng

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29 Scopus citations


Osteoporosis is characterized mainly by low bone mineral density (BMD). Many cytokines and chemokines have been related with bone metabolism. Monocytes in the immune system are important sources of cytokines and chemokines for bone metabolism. However, no study has investigated in vivo expression of a large number of various factors simultaneously in human monocytes underlying osteoporosis. This study explored the in vivo expression pattern of general cytokines, chemokines, and their receptor genes in human monocytes and validated the significant genes by qRT-PCR and genetic association analyses. Expression profilings were performed in monocyte samples from 26 Chinese and 20 Caucasian premenopausal women with discordant BMD. Genome-wide association analysis with BMD variation was conducted in 1000 unrelated Caucasians. We selected 168 cytokines, chemokines, osteoclast-related factors, and their receptor genes for analyses. Significantly, the signal transducer and activator of transcription 1 (STAT1) gene was upregulated in the low versus the high BMD groups in both Chinese and Caucasians. We also revealed a significant association of the STAT1 gene with BMD variation in the 1000 Caucasians. Thus we conclude that the STAT1 gene is important in human circulating monocytes in the etiology of osteoporosis.

Original languageEnglish (US)
Pages (from-to)339-355
Number of pages17
JournalJournal of Bone and Mineral Research
Issue number2
StatePublished - Feb 2010


All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine

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