ArticleBiostatistics (Oxford, England)2008
Testing for association on the X chromosome.
Article in Biostatistics (Oxford, England), 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 9 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
91 citing papers in PubMed, 9 syntheses or guidelines pooled it.
- X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.Respiratory research · 2023Pooled it
- A systematic review of analytical methods used in genetic association analysis of the X-chromosome.Briefings in bioinformatics · 2022Pooled it
- No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.Scientific reports · 2016Pooled it
- Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.Human molecular genetics · 2016Pooled it
- Genome-wide association studies identify genetic loci for low von Willebrand factor levels.European journal of human genetics : EJHG · 2016Pooled it
- Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.Gastroenterology · 2013Pooled it
- Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.Nature genetics · 2012Pooled it
- A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3.Human molecular genetics · 2011Pooled it
- Pooled it
- Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.American journal of hematology · 2015Trial
- Extracellular matrix gene variants and susceptibility to sport-related musculoskeletal injuries.Journal of applied genetics · 2026Article
- X chromosome association analyses using multiple models identifies 18 genetic loci influencing dietary intake in UK Biobank.bioRxiv : the preprint server for biology · 2026Article
- X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies.BMC genomics · 2025Article
- Methodological opportunities in genomic data analysis to advance health equity.Nature reviews. Genetics · 2025Review
- Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.American journal of human genetics · 2025Article
- X-chromosome-wide association study for Alzheimer's disease.Molecular psychiatry · 2025Article
- Eight quick tips for including chromosome X in genome-wide association studies.PLoS computational biology · 2024Article
- Genetic architecture of the structural connectome.Nature communications · 2024Article
- Leveraging sex-genetic interactions to understand brain disorders: recent advances and current gaps.Brain communications · 2024Review
- eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?American journal of human genetics · 2023Review
31 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The problem of testing for genotype-phenotype association with loci on the X chromosome in mixed-sex samples has received surprisingly little attention. A simple test can be constructed by counting alleles, with males contributing a single allele and females 2. This approach does assume not only Hardy-Weinberg equilibrium in the population from which the study subjects are sampled but also, perhaps, an unrealistic alternative hypothesis. This paper proposes 1 and 2 degree-of-freedom tests for association which do not assume Hardy-Weinberg equilibrium and which treat males as homozygous females. The proposed method remains valid when phenotype varies between sexes, provided the allele frequency does not, and avoids the loss of power resulting from stratification by sex in such circumstances.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.