Integrative genomic analysis for the functional roles of ITPKC in bone mineral density

Hsing Fang Lu, Henry Sung Ching Wong, Ben Kuen Chen, Hsien Tzung Liao, Yu Wen Hsu, Shiro Ikegawa, Er Chieh Cho, Kuo Sheng Hung, Wei Chiao Chang

Research output: Contribution to journalArticle

Abstract

Osteoporosis is defined by low bone mineral density (BMD), which is mainly due to the imbalances in osteoclast and osteoblast activity. Previous studies indicated that early activation of osteoclasts relies on calcium entry through store-operated calcium (SOC) entry, and several genes, including STIM1, ORAI1, and ITPKC, are known as key regulators of SOC entry. However, the relationships between STIM1, ORAI1, ITPKC, and human BMD are still unclear. In order to investigate the plausible associations between these genes and BMD, we conducted a meta-analysis of genes expression and BMD using the publicly available GEO database. We further recruited 1044 subjects and tested associations between polymorphisms in these genes and BMD. Clinical information (including age, sex, and BMI) was collected and used for the analysis. Our results indicated that ITPKC gene expression was significantly associated with BMD. Furthermore, we found that one ITPKC SNP (rs2607420) was significantly associated with lumbar spine BMD. Through bioinformatics analysis, rs2607420 was found to be very likely to participate in the regulation of ITPKC expression. Our findings suggest that ITPKC is a susceptibility gene for BMD, and rs2607420 may play an important role in the regulation of this gene.

Original languageEnglish
Article numberBSR20181481
JournalBioscience Reports
Volume38
Issue number6
DOIs
Publication statusPublished - 2018 Nov 30

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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    Lu, H. F., Wong, H. S. C., Chen, B. K., Liao, H. T., Hsu, Y. W., Ikegawa, S., Cho, E. C., Hung, K. S., & Chang, W. C. (2018). Integrative genomic analysis for the functional roles of ITPKC in bone mineral density. Bioscience Reports, 38(6), [BSR20181481]. https://doi.org/10.1042/BSR20181481