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Integrative genomic analysis for the functional roles of ITPKC in bone mineral density
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 STI...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265621/ https://www.ncbi.nlm.nih.gov/pubmed/30355649 http://dx.doi.org/10.1042/BSR20181481 |
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author | 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 |
author_facet | 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 |
author_sort | Lu, Hsing-Fang |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6265621 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Portland Press Ltd. |
record_format | MEDLINE/PubMed |
spelling | pubmed-62656212018-12-13 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 Biosci Rep Research Articles 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. Portland Press Ltd. 2018-11-30 /pmc/articles/PMC6265621/ /pubmed/30355649 http://dx.doi.org/10.1042/BSR20181481 Text en © 2018 The Author(s). http://creativecommons.org/licenses/by/4.0/This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Research Articles 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 |
title | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density |
title_full | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density |
title_fullStr | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density |
title_full_unstemmed | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density |
title_short | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density |
title_sort | integrative genomic analysis for the functional roles of itpkc in bone mineral density |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265621/ https://www.ncbi.nlm.nih.gov/pubmed/30355649 http://dx.doi.org/10.1042/BSR20181481 |
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