Purpose: The aim of this study was to evaluate the possible relationship between four single nucleotide polymorphisms of hemangioma-linked genes encoding for anthrax toxin receptor 1 (ANTXR1 G976A), R kinase insert domain receptor (KDR T1444C), adrenoceptor beta 2 (ADRB C79CG), and insulin-like growth factor 1 receptor (IGF-1R G3174A) and the occurrence of IVH in a population of preterm infants.
Methods: The study includes a population of 105 infants born from 24 + 0 to 32 + 0 weeks of gestation and hospitalized at the Department of Neonatology (III level hospital) of Poznan University of Medical Science. Intraventricular hemorrhage was diagnosed with the use of cranial ultrasound. The classification of intraventricular bleeding was based on the Papile IVH classification.
Results: The incidence of IVH was higher in infants with lower birth weight, lower APGAR scores, and low birth weight. The study revealed that IVH was approximately two times less likely to occur in infants with the allele G of IGF-1R 3174G > A.
Conclusion: Identifying susceptible premature infants through genetic analysis could be a potential way to alleviate severe IVH and its subsequent consequences. Further research examining a wider range of relevant gene polymorphisms could help highlight any genetic patterns in this deleterious bleeding complication.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227102 | PMC |
http://dx.doi.org/10.1007/s00381-023-05824-4 | DOI Listing |
CNS 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.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Multiple sclerosis (MS) is an autoimmune disease of the central nervous system (CNS) with no definitive trigger. However, epidemiological studies indicate that environmental factors, such as infection with Epstein-Barr virus (EBV) and low vitamin D (Vit D) levels in genetically predisposed individuals, are important risk factors. One leading proposal is that EBV triggers MS via mechanisms such as molecular mimicry, where activated autoreactive B and T lymphocytes mistakenly target self-antigens.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!