This preprint is under consideration at BMC Medical Genomics. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
Research article
Mingliang Gu
Liao Cheng People's Hospital
Corresponding Author
ORCiD: https://orcid.org/0000-0002-3892-0756
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Genetic factors contribute to essential hypertension (EH) etiology, however, causal genes haven’t been identified. Mitochondrial dysfunction is common in EH. However, evidence supporting mitochondrial DNA (mtDNA) mutation involved in EH in Chinese Han is lacking. We aimed to characterize relationship between mtDNA mutation and EH in China.
Methods: Totally 216 individuals including 151 EH patients and 65 controls from Chinese Han population in Xinjiang were sequenced for whole mtDNA genome. Novel variations and haplogroups were identified for each mtDNA sequence. Frequencies of gene mutations were compared between cases and controls, and functional changes of mtDNA genes associated with EH were predicted.
Results: Haplogroups of Chinese Han population in Xinjiang were consistent with those in northern China. No association of mitochondrial haplogroup with EH was observed. Nine novel variations and three EH-associated mutations were identified. Variants in mutation m.12361A>G, m15662A>G and m.1598G>A were predicted to affect functions of ND5, CYTB and 12S rRNA, respectively.
Conclusions: Our results have provided a new clue for mitochondrial genetic characteristics in etiology of EH in Chinese Han population in Xinjiang.
Keywords
Essential hypertension, Mitochondria, NADH dehydrogenase subunit 5, Cytochrome B, Variation
Figure 1
Figure 2
Figure 3
Figure 4
This is a list of supplementary files associated with this preprint. Click to download.
Loading...
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 13 Aug, 2020
No community comments so far
Review #1 received
Received 20 Sep, 2020
Reviewer #1 agreed
On 24 Aug, 2020
Reviewers invited
Invitations sent on 19 Aug, 2020
First submitted
On 30 Jul, 2020
Editor assigned
On 30 Jul, 2020
Submission checks complete
On 29 Jul, 2020
Editor invited
On 29 Jul, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Epigenetics & Genomics
Learn more about our company.
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
This preprint is under consideration at BMC Medical Genomics. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
Mingliang Gu
Liao Cheng People's Hospital
Corresponding Author
ORCiD: https://orcid.org/0000-0002-3892-0756
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 13 Aug, 2020
No community comments so far
Review #1 received
Received 20 Sep, 2020
Reviewer #1 agreed
On 24 Aug, 2020
Reviewers invited
Invitations sent on 19 Aug, 2020
First submitted
On 30 Jul, 2020
Editor assigned
On 30 Jul, 2020
Submission checks complete
On 29 Jul, 2020
Editor invited
On 29 Jul, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Epigenetics & Genomics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Genetic factors contribute to essential hypertension (EH) etiology, however, causal genes haven’t been identified. Mitochondrial dysfunction is common in EH. However, evidence supporting mitochondrial DNA (mtDNA) mutation involved in EH in Chinese Han is lacking. We aimed to characterize relationship between mtDNA mutation and EH in China.
Methods: Totally 216 individuals including 151 EH patients and 65 controls from Chinese Han population in Xinjiang were sequenced for whole mtDNA genome. Novel variations and haplogroups were identified for each mtDNA sequence. Frequencies of gene mutations were compared between cases and controls, and functional changes of mtDNA genes associated with EH were predicted.
Results: Haplogroups of Chinese Han population in Xinjiang were consistent with those in northern China. No association of mitochondrial haplogroup with EH was observed. Nine novel variations and three EH-associated mutations were identified. Variants in mutation m.12361A>G, m15662A>G and m.1598G>A were predicted to affect functions of ND5, CYTB and 12S rRNA, respectively.
Conclusions: Our results have provided a new clue for mitochondrial genetic characteristics in etiology of EH in Chinese Han population in Xinjiang.
Figure 1
Figure 2
Figure 3
Figure 4
This is a list of supplementary files associated with this preprint. Click to download.
Loading...