Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome
OBJECTIVE: To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS).
METHODS: For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes.
RESULTS: The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls.
CONCLUSION: The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:38 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 38(2021), 11 vom: 10. Nov., Seite 1087-1090 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Zhang, Mingying [VerfasserIn] |
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| Links: |
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| Themen: |
104982-03-8 |
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| Anmerkungen: |
Date Completed 04.11.2021 Date Revised 31.05.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20200922-00682 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM332679136 |
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| 500 | |a Date Revised 31.05.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS) | ||
| 520 | |a METHODS: For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes | ||
| 520 | |a RESULTS: The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls | ||
| 520 | |a CONCLUSION: The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Biomarkers |2 NLM | |
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| 700 | 1 | |a Jiang, Xiaoping |e verfasserin |4 aut | |
| 700 | 1 | |a Lyu, Ling |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Yan |e verfasserin |4 aut | |
| 700 | 1 | |a Zhong, Ying |e verfasserin |4 aut | |
| 700 | 1 | |a Gao, Long |e verfasserin |4 aut | |
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