Association between mtDNA haplogroups and skeletal fluorosis in Han population residing in drinking water endemic fluorosis area of northern China
To investigate the association between mtDNA genetic information and the risk of SF, individuals were conducted in the drinking water endemic fluorosis area in northern China, sequenced the whole genome of mtDNA, identified the SNPs and SNVs, analyzed the haplogroups, and diagnosed SF, and then, the effect of mtDNA genetic information on the risk of SF was evaluated. We find that, D5 haplogroup and its specific SNPs reduced the risk, while the D4 haplogroup and its specific SNPs increased the risk of SF. The number of SNVs in coding regions of mitochondrial respiratory chain (MRC) is different between the controls and cases. This suggests that D5 haplogroup may play a protective role in the risk of SF, while the opposite is observed for the D4 haplogroup, this may relate to their specific SNPs. And SNVs that encode the MRC complex may also be associated with the risk of SF.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:34 |
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| Enthalten in: |
International journal of environmental health research - 34(2024), 5 vom: 30. Apr., Seite 2397-2406 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ji, Yi [VerfasserIn] |
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| Links: |
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| Themen: |
DNA, Mitochondrial |
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| Anmerkungen: |
Date Completed 10.04.2024 Date Revised 10.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1080/09603123.2023.2253161 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM361579918 |
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| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a To investigate the association between mtDNA genetic information and the risk of SF, individuals were conducted in the drinking water endemic fluorosis area in northern China, sequenced the whole genome of mtDNA, identified the SNPs and SNVs, analyzed the haplogroups, and diagnosed SF, and then, the effect of mtDNA genetic information on the risk of SF was evaluated. We find that, D5 haplogroup and its specific SNPs reduced the risk, while the D4 haplogroup and its specific SNPs increased the risk of SF. The number of SNVs in coding regions of mitochondrial respiratory chain (MRC) is different between the controls and cases. This suggests that D5 haplogroup may play a protective role in the risk of SF, while the opposite is observed for the D4 haplogroup, this may relate to their specific SNPs. And SNVs that encode the MRC complex may also be associated with the risk of SF | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Skeletal fluorosis | |
| 650 | 4 | |a mtDNA haplogroup | |
| 650 | 4 | |a single nucleotide polymorphism | |
| 650 | 4 | |a single nucleotide variant | |
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| 650 | 7 | |a Drinking Water |2 NLM | |
| 700 | 1 | |a Guo, Ning |e verfasserin |4 aut | |
| 700 | 1 | |a Lu, Chunqing |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Meichen |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Sa |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Liu |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Qiao |e verfasserin |4 aut | |
| 700 | 1 | |a Lv, Man |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Yanmei |e verfasserin |4 aut | |
| 700 | 1 | |a Gao, Yanhui |e verfasserin |4 aut | |
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