CXADR polymorphism rs6517774 modifies islet autoimmunity characteristics and exhibits sex disparity DOI Creative Commons
Lucas Nygård, Milla Valta, Antti‐Pekka Laine

et al.

Frontiers in Genetics, Journal Year: 2023, Volume and Issue: 14

Published: Nov. 2, 2023

Enteroviral infections have been linked to the development of islet autoimmunity (IA) and type 1 diabetes (T1D), coxsackie adenovirus receptor (CXADR) is one ligands used by adenoviruses enteroviruses for cell internalization. Two CXADR single nucleotide polymorphisms (SNPs), rs6517774 rs2824404, were previously associated with an increased susceptibility IA in international TEDDY study (The Environmental Determinants Diabetes Young). This aimed replicate results genotyping 2886 children enrolled Finnish Prediction Prevention (DIPP). In our preliminary analysis SNPs’ allelic distributions, we could not find any association susceptibility. However, a stratified revealed sex disparity, since distribution was different when comparing autoantibody positive females males; difference seen healthy subjects. By using HLA risk groups as covariates, Cox regression survival found that (A/G) SNP lower age at seroconversion (Female*rs6517774-AA; HR = 1.53, p 0.002), while introducing protective effect males. Accordingly, propose alters characteristics modifying sex-dependent manner. light this observation, now joins limited set on SNPs introduce effects initiation.

Language: Английский

Genetic variants associated with response to anti-CGRP monoclonal antibody therapy in a chronic migraine Han Chinese population DOI Creative Commons

Yu-Chin An,

Kuo‐Sheng Hung,

Chih‐Sung Liang

et al.

The Journal of Headache and Pain, Journal Year: 2024, Volume and Issue: 25(1)

Published: Sept. 12, 2024

Anti-calcitonin gene-related peptide (CGRP) monoclonal antibodies have emerged as promising therapeutic options for the treatment of chronic migraine. However, response varies considerably among individuals, suggesting a potential role genetic factors. This study aimed to identify variants affecting efficacy anti-CGRP antibody therapy in migraine Han Chinese population Taiwan enhance precision and understand architecture

Language: Английский

Citations

2
Long or short? Telomere length and pancreatic cancer and its precursor lesions, a narrative review DOI
Daniele Campa, Alessio Felici, Chiara Corradi

et al.

Mutagenesis, Journal Year: 2023, Volume and Issue: unknown

Published: Nov. 16, 2023

Pancreatic ductal adenocarcinoma (PDAC) is the most common and lethal form of pancreatic cancer, with a survival approaching only 11% at five years after diagnosis. In last 15 years, telomere length measured in leukocyte (LTL) has been studied relation to PDAC risk. The majority studies reported an association between short LTL increased risk, but results are heterogeneous. Genome-wide have identified several single nucleotide polymorphisms (SNPs) telomerase reverse transcriptase (TERT) gene as susceptibility loci for PDAC. Polygenic risk scores (PRS) computed using SNPs associated tested various methods giving contrasting results. aim this review analyze all publications carried out specifically on LTL, considering qPCR genetic proxies, Additionally, we will give overview relevant associations genes PDAC, answer question shorter or longer? Which one two risk?

Language: Английский

Citations

5
Associations between the New DNA-Methylation-Based Telomere Length Estimator, the Mediterranean Diet and Genetics in a Spanish Population at High Cardiovascular Risk DOI Creative Commons
Óscar Coltell, Eva M. Asensio, José V. Sorlí

et al.

Antioxidants, Journal Year: 2023, Volume and Issue: 12(11), P. 2004 - 2004

Published: Nov. 15, 2023

Biological aging is a relevant risk factor for chronic diseases, and several indicators measuring this have been proposed, with telomere length (TL) among the most studied. Oxidative stress may regulate shortening, which implicated in increased risk. Using novel estimator TL, we examined whether adherence to Mediterranean diet (MedDiet), highly antioxidant-rich dietary pattern, associated longer TL. We determined TL using DNA methylation algorithms (DNAmTL) 414 subjects at high cardiovascular from Spain. Adherence MedDiet was assessed by validated score, genetic variants candidate genes genome-wide level were analyzed. observed significant associations (p < 0.05) between DNAmTL (TERT, TERF2, RTEL1, DCAF4), contributing validity of as biomarker population. Higher lower odds having shorter whole sample (OR = 0.93; 95% CI: 0.85–0.99; p 0.049 after fully multivariate adjustment). Nevertheless, association stronger women than men. Likewise, women, direct score continuous variable (beta 0.015; SE: 0.005; 0.003), indicating that one-point increase related an average 0.015 ± 0.005 kb Upon examination specific items within global found fruits, fish, “sofrito”, grains exhibited strongest women. The combining these significantly In study (GWAS), identified ten polymorphisms suggestive significance 1 × 10−5) (intergenics, IQSEC1, NCAPG2, ABI3BP genes) detected some gene–MedDiet modulations on DNAmTL. As first analyzing estimator, genetics, modulation MedDiet, more studies are needed confirm findings.

Language: Английский

Citations

3
Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population DOI

Ye He,

Binyao Li, Xinying Zhao

et al.

Journal of Pediatric Urology, Journal Year: 2024, Volume and Issue: 20(3), P. 438.e1 - 438.e11

Published: Feb. 8, 2024

Language: Английский

Citations

0
The relationship between genetic variation in Aquaporin-4, sleep quality measures and Alzheimer’s disease-related phenotypes. DOI Creative Commons
Simon M. Laws, Tenielle Porter, Ayeisha Milligan Armstrong

et al.

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 17, 2024

Abstract Genetic variants within the Aquaporin-4 gene (AQP4) have been associated with Alzheimer’s disease (AD) diagnosis, rate of cognitive decline, and brain amyloid-β (Aβ) burden. Additionally, AQP4 reported to moderate relationship between sleep Aβ As yet, impact interactions on other AD-related phenotypes, measures progression, remains largely unexplored. The current study sought assess relationships variants, self-reported measures, including cognition, burden, volumetrics, in a cohort cognitively unimpaired individuals at an increased risk AD due accumulation. Analyses used data from Australian Imaging, Biomarkers Lifestyle (AIBL) study. When assessing components, several associations were observed. Specifically, both directly, interaction latency overall quality, cross-sectional longitudinal however these did not survive correction for multiple testing. effects AQP4 as well disturbances duration, domains cross-sectionally longitudinally. Finally, regional volumes, findings this provide further evidence genetic variation variants.

Language: Английский

Citations

0
CXADR polymorphism rs6517774 modifies islet autoimmunity characteristics and exhibits sex disparity DOI Creative Commons
Lucas Nygård, Milla Valta, Antti‐Pekka Laine

et al.

Frontiers in Genetics, Journal Year: 2023, Volume and Issue: 14

Published: Nov. 2, 2023

Enteroviral infections have been linked to the development of islet autoimmunity (IA) and type 1 diabetes (T1D), coxsackie adenovirus receptor (CXADR) is one ligands used by adenoviruses enteroviruses for cell internalization. Two CXADR single nucleotide polymorphisms (SNPs), rs6517774 rs2824404, were previously associated with an increased susceptibility IA in international TEDDY study (The Environmental Determinants Diabetes Young). This aimed replicate results genotyping 2886 children enrolled Finnish Prediction Prevention (DIPP). In our preliminary analysis SNPs’ allelic distributions, we could not find any association susceptibility. However, a stratified revealed sex disparity, since distribution was different when comparing autoantibody positive females males; difference seen healthy subjects. By using HLA risk groups as covariates, Cox regression survival found that (A/G) SNP lower age at seroconversion (Female*rs6517774-AA; HR = 1.53, p 0.002), while introducing protective effect males. Accordingly, propose alters characteristics modifying sex-dependent manner. light this observation, now joins limited set on SNPs introduce effects initiation.

Language: Английский

Citations

0