scholarly journals Mitochondrial DNA Mutations Associated with Essential Hypertension in Xin Jiang Han Chinese Population

2020 ◽  
Author(s):  
Wenxi Jiang ◽  
Qiang Lü ◽  
Ronghui Li ◽  
Panpan Wang ◽  
Guangle Shan ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Chinese Han Population ◽  
12S Rrna ◽  
Mtdna Mutation ◽  
Chinese Han ◽  
Genetic Characteristics ◽  
Han Population ◽  
Functional Changes ◽  
Mtdna Sequence

Abstract 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.

scholarly journals Association between Cullin-3 Single-Nucleotide Polymorphism rs17479770 and Essential Hypertension in the Male Chinese Han Population

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Jin Li ◽  
Jing Hu ◽  
Rong Sun ◽  
Yongpan Zhao ◽  
Heping Liu ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Protective Factor ◽  
Secondary Hypertension ◽  
Chinese Han Population ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Data Set ◽  
Han Population ◽  
Significant Difference ◽  
Cullin 3

Background. Hypertension, including essential and secondary hypertension, is a multifactorial disease, affecting more than one billion people worldwide. Secondary hypertension can result from mutations of cullin-3 (CUL3); however, whether polymorphisms ofCUL3are associated with essential hypertension (EH) has not been reported. Here, we investigated the association betweenCUL3SNPs rs17479770 and rs3738952 and EH in the Chinese Han population.Methods. This case-control study investigated 520 representatives, including 259 patients with EH and 261 normotensive controls matched for age, gender, BMI, TG, TC, and HbA1c for the distribution of functional rs17479770 and rs3738952 within theCUL3gene by using PCR and RFLP.Results. Our results showed that there was no significant difference in allele and genotype distribution of rs3738952 and haplotype distribution of rs17479770 and rs3738952 between the EH group and normotensive group, whereas the rs17479770 TT genotype in male and the full data set were significantly associated with the decreased risk of EH (P=0.050,P=0.042), and rs17479770 allele T in male was shown to have the correlation tendency of the decreased risk of EH (P=0.064).Conclusion. Our data suggest that theCUL3rs17479770 variant could be a protective factor in the pathogenesis of EH.

scholarly journals Associations of Mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.

2020 ◽  
Author(s):  
Ye Zhu ◽  
Jia You ◽  
Chao Xu ◽  
Xiang Gu
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Fasting Blood Glucose ◽  
Chinese Patients ◽  
Abdominal Circumference ◽  
Control Group ◽  
Mtdna Mutation ◽  
Mutation Site ◽  
Genetic Characteristics ◽  
Mtdna Mutations

Abstract Background: Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has not been fully understood. The study was to evaluate the associations of mtDNA mutations with maternally inherited essential hypertensive subjects in China.Methods: From June 2009 to June 2016, a total of 800 gender-matched Chinese patients with maternally inherited essential hypertension (MIEH) and control group were 1:1 enrolled in this case-control study. Genomic DNA was extracted from each person's peripheral blood cells. The main mtDNA locations for MIEH were screened with oligodeoxynucleotides 3777-4679bp, analyzed and compared with the updated consensus Cambridge Sequence. Pathogenic mtDNA mutations were identified from the mitochondrial map.Results: MIEH subjects presented significantly higher values than those of control group in abdominal circumference(AC), waist circumference(WC), body mass index(BMI), fasting blood glucose(FBG), triglyceride(TG), low-density lipoprotein cholesterol (LDL) and renal function (P<0.05). MIEH subjects carried more amino acid changes and coding sequence variants (P<0.01) than control group. The allele frequencies of the eight single nucleotide polymorphisms(SNPs) were significantly different between the two groups, including m.3970 C>T, m.4048G>A, m.4071C>T, m.4086C>T, m. 4164A>G and m.4248T>C in ND1 gene, and m.4386T>C and m.4394C>T in tRNAGln gene(P<0.001). Fifty-five homoplasmic or heteroplasmic mutations were detected in 5 genes: ND1, tRNAIle, tRNAMet, tRNAGln and ND2 gene. The ND1 gene was the main mutation site, where the most mtDNA mutation was m.3970 C>T.Conclusions: The mtDNA mutations were involved in the process of MIEH. We identified mitochondrial genetic characteristics in MIEH patients in China. The present research serves as a solid foundation for further detailed research on the association between MIEH and mitochondrial dysfunction, and their causal relationship in Chinese and other populations with a similar lifestyle.

scholarly journals Associations of mitochondrial DNA 3777–4679 region mutations with maternally inherited essential hypertensive subjects in China

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ye Zhu ◽  
Jia You ◽  
Chao Xu ◽  
Xiang Gu
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Fasting Blood Glucose ◽  
Chinese Patients ◽  
Abdominal Circumference ◽  
Control Group ◽  
Mtdna Mutation ◽  
Mutation Site ◽  
Genetic Characteristics ◽  
Mtdna Mutations

Abstract Background Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has not been fully understood. The study was to evaluate the associations of mtDNA mutations with maternally inherited essential hypertensive subjects in China. Methods From June 2009 to June 2016, a total of 800 gender-matched Chinese patients with maternally inherited essential hypertension (MIEH) and control group were 1:1 enrolled in this case-control study. Genomic DNA was extracted from each person’s peripheral blood cells. The main mtDNA locations for MIEH were screened with oligodeoxynucleotides 3777-4679 bp, analyzed and compared with the updated consensus Cambridge Sequence. Pathogenic mtDNA mutations were identified from the mitochondrial map. Results MIEH subjects presented significantly higher values than those of control group in abdominal circumference (AC), waist circumference (WC), body mass index (BMI), fasting blood glucose (FBG), triglyceride (TG), low-density lipoprotein cholesterol (LDL) and renal function (P < 0.05). MIEH subjects carried more amino acid changes and coding sequence variants (P < 0.01) than control group. The allele frequencies of the eight single nucleotide polymorphisms (SNPs) were significantly different between the two groups, including m.3970 C > T, m.4048G > A, m.4071C > T, m.4086C > T, m. 4164A > G and m.4248 T > C in ND1 gene, and m.4386 T > C and m.4394C > T in tRNAGln gene(P < 0.001). Fifty-five homoplasmic or heteroplasmic mutations were detected in 5 genes: ND1, tRNAIle, tRNAMet, tRNAGln and ND2 gene. The ND1 gene was the main mutation site, where the most mtDNA mutation was m.3970 C > T. Conclusions The mtDNA mutations were involved in the process of MIEH. We identified mitochondrial genetic characteristics in MIEH patients in China. The present research serves as a solid foundation for further detailed research on the association between MIEH and mitochondrial dysfunction, and their causal relationship in Chinese and other populations with a similar lifestyle.

scholarly journals Association between mitochondrial DNA variations and schizophrenia in the northern Chinese Han population

PLoS ONE ◽  
2017 ◽  
Vol 12 (8) ◽  
pp. e0182769 ◽  
Author(s):  
Feng-ling Xu ◽  
Mei Ding ◽  
Jun Yao ◽  
Zhang-sen Shi ◽  
Xue Wu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Northern Chinese ◽  
Dna Variations
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