ArticleBMC cancer2016
Runs of homozygosity and inbreeding in thyroid cancer.
Article in BMC cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- A meta-analysis of consanguinity and breast cancer.Irish journal of medical science · 2018Pooled it
- Diverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.medRxiv : the preprint server for health sciences · 2026Article
- Gene expression and immune cell heterogeneity in inbred Amur tiger.BMC genomics · 2026Article
- The Influence of Demographic History and Genetic Architecture on Complex Traits via Runs of Homozygosity.bioRxiv : the preprint server for biology · 2025Article
- Pathogenic nsSNPs of protein kinase C-eta with hepatocellular carcinoma susceptibility.Cancer cell international · 2024Article
- The coefficients of inbreeding revealed by ROH study among inbred individuals belonging to each type of the first cousin marriage: A preliminary report from North India.Genes & genomics · 2023Article
- Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine.Human molecular genetics · 2022Article
- Association of Parental Consanguinity With Papillary Thyroid Carcinoma: A Case-Control Study.The Journal of clinical endocrinology and metabolism · 2021Article
- Global Autozygosity Is Associated with Cancer Risk, Mutational Signature and Prognosis.Cancers · 2020Article
- Regions of homozygosity as risk factors for multiple myeloma.Annals of human genetics · 2019Article
- Genomic Analyses of Human European Diversity at the Southwestern Edge: Isolation, African Influence and Disease Associations in the Canary Islands.Molecular biology and evolution · 2018Article
- Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project.American journal of human genetics · 2018Article
- Runs of homozygosity: windows into population history and trait architecture.Nature reviews. Genetics · 2018Review
- Genetic diversity, inbreeding and cancer.Proceedings. Biological sciences · 2018Review
- Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data.BMC genomics · 2018Article
- Runs of homozygosity associate with decreased risks of lung cancer in never-smoking East Asian females.Journal of Cancer · 2018Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
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Authors and funding
14 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenome-wide association studies (GWASs) have identified several single-nucleotide polymorphisms (SNPs) influencing the risk of thyroid cancer (TC). Most cancer predisposition genes identified through GWASs function in a co-dominant manner, and studies have not found evidence for recessively functioning disease loci in TC. Our study examines whether homozygosity is associated with an increased risk of TC and searches for novel recessively acting disease loci.
methodsData from a previously conducted GWAS were used for the estimation of the proportion of phenotypic variance explained by all common SNPs, the detection of runs of homozygosity (ROH) and the determination of inbreeding to unravel their influence on TC.
resultsInbreeding coefficients were significantly higher among cases than controls. Association on a SNP-by-SNP basis was controlled by using the false discovery rate at a level of q* < 0.05, with 34 SNPs representing true differences in homozygosity between cases and controls. The average size, the number and total length of ROHs per person were significantly higher in cases than in controls. A total of 16 recurrent ROHs of rather short length were identified although their association with TC risk was not significant at a genome-wide level. Several recurrent ROHs harbor genes associated with risk of TC. All of the ROHs showed significant evidence for natural selection (iHS, Fst, Fay and Wu's H).
conclusionsOur results support the existence of recessive alleles in TC susceptibility. Although regions of homozygosity were rather small, it might be possible that variants within these ROHs affect TC risk and may function in a recessive manner.
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