Blood m.3243A>G levels in a cohort of mitochondrial disease patients

Both files contained in this dataset contain measurements of the level of the pathogenic mtDNA variant m.3243A>G within blood. These are raw data values, not corrected for age. 1. longitudinal_3243_blood_data.csv This file contains blood m.3243A>G level measurements originally published in Fig. 2, Grady, Pickett et al. 2018 (doi: 10.15252/emmm.201708262). Data are from 96 individuals who were recruited into the Mitochondrial Disease Patient Cohort UK and had two or more measurements of m.3243A>G blood level taken between 2000 and 2017. m.3243A>G levels were determined using a clinically validated pyrosequencing method, as described in de Laat et al. 2016 (doi: 10.1016/j.bbacli.2016.04.007). The median time between first and last measurement was 2.5 years (IQR = 4.35, range = 0.01 – 15.20), the median age at first measurement was 36.25 years (IQR = 20.58, range = 15.60 – 72.50) and at last measurement was 40.25 years (IQR = 21.00, range = 19.80 – 78.80). Variables are as follows: ID: Anonymised patient number age: Age at first m.3243A>G measurement age2: Age at last m.3243A>G measurement het: First m.3243A>G measurement; this is uncorrected for age and is expressed as a %. het2: Last m.3243A>G measurement; this is uncorrected for age and is expressed as a %. 2. mother_child_3243_data.csv This file contains blood m.3243A>G level measurements originally published in PIckett, Blain et al. 2019 (doi: 10.1056/NEJMc1808565). Data are from 245 mother-child pairs from 141 unique mothers. Variables are as follows: mother_id = anonymised unique ID for each mother b_mother = Mother's blood m.3243A>G measurement; this is uncorrected for age and is expressed as a %. b_child = Child's blood m.3243A>G measurement; this is uncorrected for age and is expressed as a %. age_mother = age at which mother's m.3243A>G measurement was taken age_child = age at which child's m.3243A>G measurement was taken proband_child = 1 if the child is a proband, 0 if not proband_mother = 1 if the mother is a proband, 0 if not Further details of the protocol for collection of these data are available within: Grady, Pickett et al. 2018 (doi: 10.15252/emmm.201708262) and PIckett, Blain et al. 2019 (doi: 10.1056/NEJMc1808565). If you use any of this data respository in any published work, please cite using: Pickett, SJ, Shiau Ng, Y, Wilson, I, Alston, C, Blakely, E, Turnbull, D, Gorman, G, Taylor, RW, Mcfarland, R "Blood m.3243A>G levels in a cohort of mitochondrial disease patients" DOI:10.25405/data.ncl.20286219本数据集包含的两份文件均记录了血液中致病性线粒体DNA（mitochondrial DNA, mtDNA）突变m.3243A>G的水平数据，所有数值均为未校正年龄的原始测量结果。 1. longitudinal_3243_blood_data.csv 该文件收录的血液m.3243A>G水平测量数据，最初发表于Grady、Pickett等人2018年的研究（DOI: 10.15252/emmm.201708262）的图2中。数据来源于英国线粒体疾病患者队列招募的96名受试者，所有受试者均在2000年至2017年间完成了至少两次m.3243A>G血液水平检测。m.3243A>G水平通过经临床验证的焦磷酸测序法（pyrosequencing）测定，具体方法详见de Laat等人2016年的研究（DOI: 10.1016/j.bbacli.2016.04.007）。首次与末次检测的中位间隔时间为2.5年（四分位距IQR=4.35，范围0.01~15.20）；首次检测时的中位年龄为36.25岁（IQR=20.58，范围15.60~72.50），末次检测时的中位年龄为40.25岁（IQR=21.00，范围19.80~78.80）。该文件包含以下变量： ID：匿名化患者编号 age：首次m.3243A>G检测时的年龄 age2：末次m.3243A>G检测时的年龄 het：首次m.3243A>G检测结果，未校正年龄，以百分比（%）表示 het2：末次m.3243A>G检测结果，未校正年龄，以百分比（%）表示 2. mother_child_3243_data.csv 该文件收录的血液m.3243A>G水平测量数据，最初发表于Pickett、Blain等人2019年的研究（DOI: 10.1056/NEJMc1808565）。数据来源于141名独特母亲的245对母子/母女。该文件包含以下变量： mother_id：每位母亲的匿名唯一编号 b_mother：母亲的血液m.3243A>G检测结果，未校正年龄，以百分比（%）表示 b_child：子代的血液m.3243A>G检测结果，未校正年龄，以百分比（%）表示 age_mother：母亲接受m.3243A>G检测时的年龄 age_child：子代接受m.3243A>G检测时的年龄 proband_child：若子代为先证者则取值为1，否则为0 proband_mother：若母亲为先证者则取值为1，否则为0 上述数据采集方案的更多细节可参见Grady、Pickett等人2018年（DOI: 10.15252/emmm.201708262）及Pickett、Blain等人2019年（DOI: 10.1056/NEJMc1808565）的研究。 若您在已发表的研究中使用本数据集，请引用如下文献：Pickett, SJ, Shiau Ng, Y, Wilson, I, Alston, C, Blakely, E, Turnbull, D, Gorman, G, Taylor, RW, Mcfarland, R "Blood m.3243A>G levels in a cohort of mitochondrial disease patients" DOI:10.25405/data.ncl.20286219