Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Dec 1;531(2):370-6.
doi: 10.1016/j.gene.2013.08.020. Epub 2013 Aug 14.

Single nucleotide polymorphisms in the mitochondrial control region are associated with metabolic phenotypes and oxidative stress

Shao-Wen Weng  1 , Tsu-Kung Lin, Pei-Wen Wang, Shang-Der Chen, Yao-Chung Chuang, Chia-Wei Liou
Affiliations

Single nucleotide polymorphisms in the mitochondrial control region are associated with metabolic phenotypes and oxidative stress

Shao-Wen Weng et al. Gene. .

Abstract

Objective: To identify the mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) in the control region and elucidate their role in metabolic phenotypes and oxidative stress.

Methods: A total of 861 nondiabetic subjects were enrolled, including 250 impaired fasting glucose (IFG) and 370 obese subjects (body mass index [BMI]>25 kg/m(2)). Antioxidant status presented as total free thiol level was determined from serum samples. DNA was extracted from peripheral blood leucocytes, and the sequences were analyzed using the DNASTAR software. SNPs were identified by comparison with the Cambridge Reference Sequence.

Results: After adjusting odds ratios for age, sex, and BMI, the selected independently significant SNPs indicated 4 susceptible SNPs: SNP-16126C and SNP-16261T, which were related to abdominal obesity (P=0.009; 0.06); SNP-16390A, related to hypertension (HTN) (P=0.007); and SNP-16092C, related to decreased antioxidant capacity (P=0.015). In the obese subgroup, 3 susceptible SNPs included SNP-16189C and SNP-16260T, which showed significantly higher IFG prevalence (P=0.016 and 0.024, respectively), and SNP-16519C, which was significantly higher in the HTN group (P=0.036). As to protective SNPs, 5 protective SNPs were identified in all subjects but only one SNP-16093C is consistent in obese group, which showed a significantly lower prevalence in patients with abdominal obesity and was associated with a higher antioxidant status (P<0.001).

Conclusion: SNPs in the mtDNA control region are associated with metabolic phenotypes and oxidative stress markers. Some SNPs are relating to the interaction between obesity and genetic factors. The beneficial effects of these protective SNPs were insignificant and some susceptible SNPs became dominant within the obese subgroup. Subjects harboring these SNPs should avoid excessive weight gain.

Keywords: AO; BMI; HTN; Hypertension; IFG; Impaired fasting glucose; Mitochondrial SNPs; Obesity; Oxidative stress; SNPs; TBARS; abdominal obesity; body mass index; hypertension; impaired fasting glucose; mitochondrial DNA; mtDNA; single nucleotide polymorphisms; thiobarbituric acid reactive substance.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • Mitochondrial complex I and V gene polymorphisms in type II diabetes mellitus among high risk Mizo-Mongoloid population, Northeast India.
    Lalrohlui F, Thapa S, Ghatak S, Zohmingthanga J, Senthil Kumar N. Lalrohlui F, et al. Genes Environ. 2016 Mar 1;38:5. doi: 10.1186/s41021-016-0034-z. eCollection 2016. Genes Environ. 2016. PMID: 27350825 Free PMC article.
  • An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
    Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS; Breast Cancer Family Registry; Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC, Hansen TV, Osorio A, Benitez J, Conejero RA, Segota E, Weitzel JN, Thelander M, Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A, Brewer C, Foo C, Evans DG, Frost D, Eccles D; EMBRACE; Douglas F, Cook J, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F; GEMO Study Collaborators; Dreyfus H, B… See abstract for full author list ➔ Blein S, et al. Breast Cancer Res. 2015 Apr 25;17(1):61. doi: 10.1186/s13058-015-0567-2. Breast Cancer Res. 2015. PMID: 25925750 Free PMC article.

Publication types

Substances

LinkOut - more resources