Genome-wide association studies for thyroid physiology and diseases

Narumi, Shunji

doi:10.1507/endocrj.ej22-0503

Cited by 3 publications

(1 citation statement)

References 58 publications

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“…In the context of SNP-phenotype relationship elucidation, genome-wide association studies (GWAS) have been increasingly important for deciphering the complex relationships between genes and physical characteristics [ 104 , 105 , 106 , 107 ]. GWAS is a type of statistical approach that seeks to identify correlations between genetic variants in large populations starting from given phenotypes [ 108 ].…”

Section: Increasing Snp Discovery Mappability and Associationmentioning

confidence: 99%

Human Pangenomics: Promises and Challenges of a Distributed Genomic Reference

Abondio

Cilli

Luiselli

2023

Life

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A pangenome is a collection of the common and unique genomes that are present in a given species. It combines the genetic information of all the genomes sampled, resulting in a large and diverse range of genetic material. Pangenomic analysis offers several advantages compared to traditional genomic research. For example, a pangenome is not bound by the physical constraints of a single genome, so it can capture more genetic variability. Thanks to the introduction of the concept of pangenome, it is possible to use exceedingly detailed sequence data to study the evolutionary history of two different species, or how populations within a species differ genetically. In the wake of the Human Pangenome Project, this review aims at discussing the advantages of the pangenome around human genetic variation, which are then framed around how pangenomic data can inform population genetics, phylogenetics, and public health policy by providing insights into the genetic basis of diseases or determining personalized treatments, targeting the specific genetic profile of an individual. Moreover, technical limitations, ethical concerns, and legal considerations are discussed.

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Section: Increasing Snp Discovery Mappability and Associationmentioning

confidence: 99%

Human Pangenomics: Promises and Challenges of a Distributed Genomic Reference

Abondio

Cilli

Luiselli

2023

Life

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Pangenomics: A new era in the field of neurodegenerative diseases

Abondio,

Bruno,

Passarino

et al. 2024

Ageing Research Reviews

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TSH Pulses Finely Tune Thyroid Hormone Release and TSH Receptor Transduction

Guillou,

Kemkem,

Lafont

et al. 2023

Endocrinology

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Detection of circulating TSH is a first-line test of thyroid dysfunction, a major health problem (affecting about 5% of the population) that, if untreated, can lead to a significant deterioration of quality of life and adverse effects on multiple organ systems. Human TSH levels display both pulsatile and (nonpulsatile) basal TSH secretion patterns; however, the importance of these in regulating thyroid function and their decoding by the thyroid is unknown. Here, we developed a novel ultra-sensitive ELISA that allows precise detection of TSH secretion patterns with minute resolution in mouse models of health and disease. We characterized the patterns of ultradian TSH pulses in healthy, freely behaving mice over the day-night cycle. Challenge of the thyroid axis with primary hypothyroidism because of iodine deficiency, a major cause of thyroid dysfunction worldwide, results in alterations of TSH pulsatility. Induction in mouse models of sequential TSH pulses that mimic ultradian TSH profiles in periods of minutes were more efficient than sustained rises in basal TSH levels at increasing both thyroid follicle cAMP levels, as monitored with a genetically encoded cAMP sensor, and circulating thyroid hormone. Hence, this mouse TSH assay provides a powerful tool to decipher how ultradian TSH pulses encode thyroid outcomes and to uncover hidden parameters in the TSH-thyroid hormone set-point in health and disease.

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Genome-wide association studies for thyroid physiology and diseases

Cited by 3 publications

References 58 publications

Human Pangenomics: Promises and Challenges of a Distributed Genomic Reference

Human Pangenomics: Promises and Challenges of a Distributed Genomic Reference

Pangenomics: A new era in the field of neurodegenerative diseases

TSH Pulses Finely Tune Thyroid Hormone Release and TSH Receptor Transduction

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