Literature DB >> 25240745

A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.

Sonia López1, Alfonso Buil2, Juan Carlos Souto3, Jordi Casademont4, Angel Martinez-Perez5, Laura Almasy6, José Manuel Soria5.   

Abstract

Identifying genes that regulate mitochondrial DNA (mtDNA) levels is of interest due to an increasing number of diseases in humans that are associated with altered mtDNA levels. We searched for nuclear polymorphisms that influence mtDNA levels using a family-based genome-wide association (GWAS) method. Also, our aim was to determine if sex influences the genetic control of mtDNA levels. Two intron-polymorphisms, in the genes PARK2 and MRPL37, showed a tendency toward an association with mtDNA levels only in females and only in males, respectively. Both genes have a role in mitochondrial biogenesis and are potential candidates for the sex-specific control of mtDNA levels.
Copyright © 2014 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Entities:  

Keywords:  Family-based study; Genome-wide association study (GWAS); Genotype–phenotype associations; Mitochondrial genome (mtDNA); Single nucleotide polymorphisms (SNPs)

Mesh：

Substances：

Year:  2014        PMID： 25240745     DOI： 10.1016/j.mito.2014.09.004

Source DB:  PubMed          Journal:  Mitochondrion        ISSN： 1567-7249            Impact factor:   4.160


  9 in total

1.  The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants.

Authors:  Ari Allyn-Feuer; Alex Ade; Jasmine A Luzum; Gerald A Higgins; Brian D Athey
Journal:  Pharmacogenomics       Date:  2018-02-05       Impact factor: 2.533

2.  Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner.

Authors:  Kristina Sundquist; Abrar Ahmad; Peter J Svensson; Bengt Zöller; Jan Sundquist; Ashfaque A Memon
Journal:  J Thromb Thrombolysis       Date:  2018-08       Impact factor: 2.300

3.  Genetic variations related to maternal whole blood mitochondrial DNA copy number: a genome-wide and candidate gene study.

Authors:  Tsegaselassie Workalemahu; Daniel A Enquobahrie; Mahlet G Tadesse; Karin Hevner; Bizu Gelaye; Sixto E Sanchez; Michelle A Williams
Journal:  J Matern Fetal Neonatal Med       Date:  2017-04-04

4.  The Association Between Polymorphisms in Cell-Cycle Genes and Mitochondrial DNA Copy Number in Coke Oven Workers.

Authors:  Yuping Wang; Jiebing Tan; Wei Wang; Xiaoran Duan; Brooke Lappe; Liuhua Shi; Yongli Yang; Xuezhong Shi
Journal:  Front Public Health       Date:  2022-07-05

5.  Novel Gene Expression Signature Predictive of Clinical Recurrence After Radical Prostatectomy in Early Stage Prostate Cancer Patients.

Authors:  Ahva Shahabi; Juan Pablo Lewinger; Jie Ren; Craig April; Andy E Sherrod; Joseph G Hacia; Siamak Daneshmand; Inderbir Gill; Jacek K Pinski; Jian-Bing Fan; Mariana C Stern
Journal:  Prostate       Date:  2016-06-08       Impact factor: 4.012

6.  Genetic variants in nuclear DNA along with environmental factors modify mitochondrial DNA copy number: a population-based exome-wide association study.

Authors:  Zhihua Li; Meng Zhu; Jiangbo Du; Hongxia Ma; Guangfu Jin; Juncheng Dai
Journal:  BMC Genomics       Date:  2018-10-16       Impact factor: 3.969

7.  Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.

Authors:  Sara Hägg; Juulia Jylhävä; Yunzhang Wang; Kamila Czene; Felix Grassmann
Journal:  Hum Genet       Date:  2020-12-31       Impact factor: 4.132

8.  Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.

Authors:  Marisa L R Cunha; Joost C M Meijers; Frits R Rosendaal; Astrid van Hylckama Vlieg; Pieter H Reitsma; Saskia Middeldorp
Journal:  PLoS One       Date:  2017-11-08       Impact factor: 3.240

9.  A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.

Authors:  Anna L Guyatt; Rebecca R Brennan; Kimberley Burrows; Philip A I Guthrie; Raimondo Ascione; Susan M Ring; Tom R Gaunt; Angela Pyle; Heather J Cordell; Debbie A Lawlor; Patrick F Chinnery; Gavin Hudson; Santiago Rodriguez
Journal:  Hum Genomics       Date:  2019-01-31       Impact factor: 4.639
  9 in total

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