White matter hyperintensities (WMHs) in migraine could be related to inflammatory and antioxidant events. The aim of this study is to verify whether migraine patients with WMHs carry a genetic pro-inflammatory/pro-oxidative status. To test this hypothesis, we analyzed (; rs2071590T and rs2844482G) and (; rs2234694C) and 2 (; rs4880T) gene polymorphisms (SNPs) in 370 consecutive patients affected by episodic (EM; n = 251) and chronic (CM; n = 119) migraine and in unrelated healthy controls (n = 100). Brain magnetic resonance was available in 183/370 patients. The results obtained show that genotypes and allele frequencies for all tested SNPs did not differ between patients and controls. No association was found between single SNPs or haplotypes and sex, migraine type, cardiovascular risk factors or disorders. Conversely, the rs2071590T (OR = 2.2) and the rs2234694C (OR = 4.9) alleles were both associated with WMHs. A four-loci haplotype ( haplotype: rs2071590T/rs2844482G/rs2234694C/rs4880T) was significantly more frequent in migraineurs with WMHs (7 of 38) compared to those without WMHs (4 of 134; OR = 8.7). We may, therefore, conclude by suggesting that that an imbalance between pro-inflammatory/pro-oxidative and antioxidant events in genetically predisposed individuals may influence the development of WMHs.
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http://dx.doi.org/10.3390/ijms232213781 | DOI Listing |
Genet Epidemiol
January 2025
Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Large-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C).
View Article and Find Full Text PDFCNS Neurosci Ther
January 2025
Affiliated Mental Health Center of Jiangnan University, Wuxi Central Rehabilitation Hospital, Wuxi, China.
The study found a significant causal relationship between coffee intake and obsessive-compulsive disorder, showing a negative correlation. There was no causal relationship between coffee intake and other mental disorders. The sensitivity analysis test found no pleiotropy affecting the results, and no single nucleotide polymorphism had a major impact on the robustness of the results, indicating that the results are stable and reliable.
View Article and Find Full Text PDFJ Res Med Sci
November 2024
Department of Medical Laboratory Technology, University of Tabuk, Tabuk, Saudi Arabia.
Background: The study aimed to detect the association between insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) and interleukin-6 (IL-6) polymorphisms among type 2 diabetes mellitus (T2DM).
Materials And Methods: This study involved 500 individuals; 250 obese DM cases and 250 healthy controls. The polymerase chain reaction restriction fragment length polymorphism was used to identify the genotype of the IGF2BP2 gene for the small nucleoproteins rs4402960 (G>T) and small nucleoproteins rs800795 (G>C).
Taurine and betaine are important nutrients in and have many important biological properties. To investigate the characteristics of taurine and betaine contents and identify SNPs associated with traits in the , we cloned the full-length cDNA of key genes in taurine and betaine (unpublished data) metabolism, determined taurine and betaine content and gene expression in different tissues and months of specimen collection, and developed SNPs in the gene coding region. We cloned the full-length cDNA of cysteine dioxygenase ( ) and cysteine sulfite decarboxylase ( ), which are key genes involved in taurine metabolism in , and found that betaine and taurine contents and the expression of key genes were regulated by seawater salinity.
View Article and Find Full Text PDFInactivation of disease alleles by allele-specific editing is a promising approach to treat dominant-negative genetic disorders, provided the causative gene is haplo-sufficient. We previously edited a dominant missense mutation with inactivating frameshifts and rescued disease-relevant phenotypes in induced pluripotent stem cell (iPSC)-derived motor neurons. However, a multitude of different missense mutations cause disease.
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