Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic proxy for EPO-increasing therapies.

Summary statistics for the genome-wide association study meta-analysis of circulating EPO in 6,127 individuals of European and African American descent. Effect sizes are aligned to allele 1. Description of column names: # Marker - this is the marker name; chromosome:position # Allele1 - the first allele for this marker in the first file where it occurs # Allele2 - the second allele for this marker in the first file where it occurs # Freq1 - weighted average of frequency for allele 1 across all studies # FreqSE - corresponding standard error for allele frequency estimate # MinFreq - minimum frequency for allele 1 across all studies # MaxFreq - maximum frequency for allele 1 across all studies # Effect - overall estimated effect size for allele1 # StdErr - overall standard error for effect size estimate # P-value - meta-analysis p-value # Direction - summary of effect direction for each study, with one '+' or '-' per study. Order of the studies is InCHIANTI, BLSA, HealthABC Europeans, PREVEND, HealthABC African Americans # HetISq - I^2 statistic which measures heterogeneity on scale of 0-100% # HetChiSq - chi-squared statistic in simple test of heterogeneity # df - degrees of freedom for heterogeneity statistic # HetPVal - P-value for heterogeneity statistic # TotalSampleSize - overall sample size for that variant in the meta-analysis

针对6127名欧洲裔及非裔美国人受试者的循环促红细胞生成素（EPO）全基因组关联研究（Genome-Wide Association Study）荟萃分析的汇总统计量。效应量已按等位基因1进行对齐。各列名称说明如下：# Marker：标记物名称；chromosome:position：染色体位置编号；# Allele1：该标记物在首次出现文件中的第一等位基因；# Allele2：该标记物在首次出现文件中的第二等位基因；# Freq1：所有研究中等位基因1频率的加权平均值；# FreqSE：等位基因1频率估计值对应的标准误；# MinFreq：所有研究中等位基因1的最小频率；# MaxFreq：所有研究中等位基因1的最大频率；# Effect：等位基因1对应的总体估计效应量；# StdErr：效应量估计值的总体标准误；# P-value：荟萃分析的P值；# Direction：各研究效应方向的汇总，每个研究对应一个'+'或'-'符号，研究顺序依次为InCHIANTI、BLSA、HealthABC欧洲裔队列、PREVEND、HealthABC非裔美国人队列；# HetISq：I²统计量，用于衡量异质性，取值范围为0-100%；# HetChiSq：异质性简单检验中的卡方统计量；# df：异质性统计量的自由度；# HetPVal：异质性统计量对应的P值；# TotalSampleSize：该遗传变异在荟萃分析中的总样本量。