Melatonin counteracts tumor occurrence and tumor cell progression in several cancer types and . It acts predominantly through its melatonin receptor type 1A (MTNR1A), and genetic variations of affect the susceptibility several diseases and cancer. The purpose of this study was to explore the effect of gene polymorphisms on the susceptibility to and clinicopathological characteristics of urothelial cell carcinoma (UCC). We recruited 272 patients with UCC and 272 normal controls to analyze three common single-nucleotide polymorphisms (SNPs) (rs2119882, rs13140012, and rs6553010) of related to cancer risk and clinicopathological relevance according to a TaqMan-based real-time polymerase chain reaction (PCR). We found that these three SNPs of were not associated with UCC susceptibility. However, patients with UCC who had at least one G allele of rs6553010 (in intron 1) were at higher risk (1.768-fold, 95% confidence interval: 1.068~1.849) of developing an invasive stage ( < 0.026), compared to those patients with AA homozygotes. In conclusion, polymorphic genotypes of rs6553010 of might contribute to the ability to predict aggressive phenotypes of UCC. This is the first study to provide insights into risk factors associated with intronic variants in the clinicopathologic development of UCC in Taiwan.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666544PMC
http://dx.doi.org/10.7150/ijms.20629DOI Listing

Publication Analysis

Top Keywords

genetic variations
8
melatonin receptor
8
receptor type
8
clinicopathologic development
8
urothelial cell
8
cell carcinoma
8
patients ucc
8
ucc
6
variations melatonin
4
type associated
4

Similar Publications

The demographic history of a population, and the distribution of fitness effects (DFE) of newly arising mutations in functional genomic regions, are fundamental factors dictating both genetic variation and evolutionary trajectories. Although both demographic and DFE inference has been performed extensively in humans, these approaches have generally either been limited to simple demographic models involving a single population, or, where a complex population history has been inferred, without accounting for the potentially confounding effects of selection at linked sites. Taking advantage of the coding-sparse nature of the genome, we propose a 2-step approach in which coalescent simulations are first used to infer a complex multi-population demographic model, utilizing large non-functional regions that are likely free from the effects of background selection.

View Article and Find Full Text PDF

Genetic diversity and selection signatures in sheep breeds.

J Appl Genet

January 2025

Departamento de Ciências Exatas, Universidade Estadual Paulista (UNESP), Faculdade de Ciências Agrárias e Veterinárias, Jaboticabal, Brazil.

Natural and artificial selection in domesticated animals can cause specific changes in genomic regions known as selection signatures. Our study used the integrated haplotype score (iHS) and Tajima's D tests within non-overlapping windows of 100 kb to identify selection signatures, in addition to genetic diversity and linkage disequilibrium estimates in 9498 sheep from breeds in Ireland (Belclare, Charollais, Suffolk, Texel, and Vendeen). The mean observed and expected heterozygosity for all the sheep breeds were 0.

View Article and Find Full Text PDF

Multi-omics sequencing of gastroesophageal junction adenocarcinoma reveals prognosis-relevant key factors and a novel immunogenomic classification.

Gastric Cancer

January 2025

Department of Biochemistry and Molecular Biology, Key Laboratory of Breast Cancer Prevention and Therapy, Ministry of Education, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin's Clinical Research Center for Cancer, Tianjin, 300060, China.

Background: Gastroesophageal junction adenocarcinoma (GEJAC) exhibits distinct molecular characteristics due to its unique anatomical location. We sought to investigate effective and reliable molecular classification of GEJAC to guide personalized treatment.

Methods: We analyzed the whole genomic, transcriptomic, T-cell receptor repertoires, and immunohistochemical data in 92 GEJAC patients and delineated the landscape of genetic and immune alterations.

View Article and Find Full Text PDF

Decoding the genetic blueprint: regulation of key agricultural traits in sorghum.

Adv Biotechnol (Singap)

September 2024

School of Agriculture and Biotechnology, Sun Yat-sen University, Shenzhen, 518107, P. R. China.

Sorghum, the fifth most important crop globally, thrives in challenging environments such as arid, saline-alkaline, and infertile regions. This remarkable crop, one of the earliest crops domesticated by humans, offers high biomass and stress-specific properties that render it suitable for a variety of uses including food, feed, bioenergy, and biomaterials. What's truly exciting is the extensive phenotypic variation in sorghum, particularly in traits related to growth, development, and stress resistance.

View Article and Find Full Text PDF

European central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.

Eur J Pediatr

January 2025

Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.

Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!