ArticleBMC proceedings2014
Analysis of homozygosity disequilibrium using whole-genome sequencing data.
Article in BMC proceedings, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Association of RASGRP1 polymorphism with vascular complications in Chinese diabetic patients with glycemic control and antihypertensive treatment.Cardiovascular diabetology · 2024Article
- A tree-based gene-environment interaction analysis with rare features.Statistical analysis and data mining · 2022Article
- Genetic ancestry plays a central role in population pharmacogenomics.Communications biology · 2021Article
- Association between gene polymorphisms of voltage-dependent CaBMC medical genetics · 2020Article
- A Perception on Genome-Wide Genetic Analysis of Metabolic Traits in Arab Populations.Frontiers in endocrinology · 2019Article
- Homozygosity disequilibrium associated with treatment response and its methylation regulation.BMC proceedings · 2018Article
- Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19.BMC genetics · 2016Article
- Homozygosity disequilibrium and its gene regulation.BMC proceedings · 2016Article
- Methods for collapsing multiple rare variants in whole-genome sequence data.Genetic epidemiology · 2014Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Homozygosity disequilibrium (HD), a nonrandom sizable run of homozygosity in the genome, may be related to the evolution of populations and may also confer susceptibility to disease. No studies have investigated HD using whole genome sequencing (WGS) analysis. In this study, we used an enhanced version of Loss-Of-Heterozygosity Analysis Suite (LOHAS) software to investigate HD through analysis of real and simulated WGS data sets provided by Genetic Analysis Workshop 18. Using a local polynomial model, we derived whole-genome profiles of homozygosity intensities for 959 individuals and characterized the patterns of HD. Generalized estimating equation analysis for 855 related samples was performed to examine the association between patterns of HD and 3 phenotypes of interest, namely diastolic blood pressure, systolic blood pressure, and hypertension status, with covariate adjustments for age and gender. We found that 4.48% of individuals in this study carried sizable runs of homozygosity (ROHs). Distributions of the length of ROHs were derived and revealed a familial aggregation of HD. Genome-wide homozygosity association analysis identified 5 and 3 ROHs associated with diastolic blood pressure and hypertension, respectively. These regions contain genes associated with calcium channels (CACNA1S), renin catalysis (REN), blood groups (ABO), apolipoprotein (APOA5), and cardiovascular diseases (RASGRP1). Simulation studies showed that our homozygosity association tests controlled type 1 error well and had a promising power. This study provides a useful analysis tool for studying HD and allows us to gain a deeper understanding of HD in the human genome.
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Registered trials
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