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 - Nov 30 2018

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Bone Density
Minerals
Bone
Genes
Osteoclasts
Calcium
Gene expression
Gene Expression
Osteoblasts
Bioinformatics
Computational Biology
Polymorphism
Osteoporosis
Single Nucleotide Polymorphism
Meta-Analysis
Spine
Chemical activation
Databases

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Lu, H. F., Wong, H. S. C., Chen, B. K., Liao, H. T., Hsu, Y. W., Ikegawa, 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

Integrative genomic analysis for the functional roles of ITPKC in bone mineral density. / Lu, Hsing Fang; Wong, Henry Sung Ching; Chen, Ben Kuen; Liao, Hsien Tzung; Hsu, Yu Wen; Ikegawa, Shiro; Cho, Er Chieh; Hung, Kuo Sheng; Chang, Wei Chiao.

In: Bioscience Reports, Vol. 38, No. 6, BSR20181481, 30.11.2018.

Research output: Contribution to journalArticle

Lu HF, Wong HSC, Chen BK, Liao HT, Hsu YW, Ikegawa S et al. Integrative genomic analysis for the functional roles of ITPKC in bone mineral density. Bioscience Reports. 2018 Nov 30;38(6). BSR20181481. https://doi.org/10.1042/BSR20181481
Lu, Hsing Fang ; Wong, Henry Sung Ching ; Chen, Ben Kuen ; Liao, Hsien Tzung ; Hsu, Yu Wen ; Ikegawa, Shiro ; Cho, Er Chieh ; Hung, Kuo Sheng ; Chang, Wei Chiao. / Integrative genomic analysis for the functional roles of ITPKC in bone mineral density. In: Bioscience Reports. 2018 ; Vol. 38, No. 6.
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