ArticleBMC medical genomics2015
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
Article in BMC medical genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Harnessing deep learning for SNP-based disease prediction in genomics.International journal of information technology : an official journal of Bharati Vidyapeeth's Institute of Computer Applications and Management · 2024Article
- Frequent copy number variants in a cohort of Mexican-Mestizo individuals.Molecular cytogenetics · 2023Article
- Genetic interactions effects for cancer disease identification using computational models: a review.Medical & biological engineering & computing · 2021Review
- Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.Frontiers in molecular biosciences · 2021Review
- Review
- Genetic expression profile-based screening of genes and pathways associated with papillary thyroid carcinoma.Oncology letters · 2018Article
- GeneExpressScore Signature: a robust prognostic and predictive classifier in gastric cancer.Molecular oncology · 2018Article
- Germline mutations predisposing to diffuse large B-cell lymphoma.Blood cancer journal · 2017Review
- Eigen-Epistasis for detecting gene-gene interactions.BMC bioinformatics · 2017Article
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe molecular mechanisms leading to sporadic medullary thyroid carcinoma (sMTC) and juvenile papillary thyroid carcinoma (PTC), two rare tumours of the thyroid gland, remain poorly understood. Genetic studies on thyroid carcinomas have been conducted, although just a few loci have been systematically associated. Given the difficulties to obtain single-loci associations, this work expands its scope to the study of epistatic interactions that could help to understand the genetic architecture of complex diseases and explain new heritable components of genetic risk.
methodsWe carried out the first screening for epistasis by Multifactor-Dimensionality Reduction (MDR) in genome-wide association study (GWAS) on sMTC and juvenile PTC, to identify the potential simultaneous involvement of pairs of variants in the disease.
resultsWe have identified two significant epistatic gene interactions in sMTC (CHFR-AC016582.2 and C8orf37-RNU1-55P) and three in juvenile PTC (RP11-648k4.2-DIO1, RP11-648k4.2-DMGDH and RP11-648k4.2-LOXL1). Interestingly, each interacting gene pair included a non-coding RNA, providing thus support to the relevance that these elements are increasingly gaining to explain carcinoma development and progression.
conclusionsOverall, this study contributes to the understanding of the genetic basis of thyroid carcinoma susceptibility in two different case scenarios such as sMTC and juvenile PTC.
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