################################################################################# # Summary statistics - Cross-ancestry GWAS of Age at Menarche in the UK Biobank # # Contact: chloesar@bu.edu # # Citation: PMID: 34021356 PMCID: PMC8213450 # ################################################################################# Sample ****** Participants: women with diverse and predominantly non-European ancestry (exclusion based on the following self-reported ancestries: "White", "British", "Irish" and "Any other white background") Phenotype: age at menarche (variable 2714) information at all of the three exams available Exclusion of participants: age at menarche < 9 or > 17; samples with high heterozygosity and high missing rate, sex aneuploidy, or with different genomic and stated sex (based on the UK Biobank QC file) Genotyping & association analysis ********************************* Genotyping array: Applied Biosystems UKBB Lung Exome Variant Evaluation UKBB Axiom Arrays Imputation panel: HRC / UK10K + 1kG phase 3 Software: Scalable and Accurate Implementation of Generalized mixed model (SAIGE) (Zhou et al., 2018) Statistical model: linear mixed-effects model adjusted for birth cohort and PCs significantly associated with age at menarche Variant QC: SAIGE minMAC=3, minMAF=10-6, post-analysis: imputation quality score >= 0.30, effective number of minor alleles (minor allele count x imputation quality score) >= 20 Column names / Header ********************* CHR: chromosome POS: genome position (build 37) rsid: rsid SNPID: variant ID (chromosome:position_al1_al2) Allele1: allele 1 Allele2: allele 2 (effect allele) AC_Allele2: allele count of allele 2 AF_Allele2: allele frequency of allele 2 imputationInfo: imputation info / quality score N: sample size BETA: effect size of allele 2 SE: standard error of BETA Tstat: score statistic of allele 2 p.value: p value varT: estimated variance of score statistic with sample relatedness incorporated varTstar: variance of score statistic without sample relatedness incorporated