ABSTRACT
(1) Autoantibodies to the leucine variant of neuropeptide Y (NPY-LA) have been found in individuals with type 1 diabetes (T1D). We investigated the association between the levels of NPY-LA and single nucleotide polymorphisms (SNP) to better understand the genetic regulatory mechanisms of autoimmunity in T1D and the functional impacts of increased NPY-LA levels. (2) NPY-LA measurements from serum and SNP genotyping were done on 560 newly diagnosed individuals with T1D. SNP imputation with the 1000 Genomes reference panel was followed by an association analysis between the SNPs and measured NPY-LA levels. Additionally, functional enrichment and pathway analyses were done. (3) Three loci (DGKH, DCAF5, and LINC02261) were associated with NPY-LA levels (p-value < 1.5 × 10−6), which indicates an association with neurologic and vascular disorders. SNPs associated with variations in expression levels were found in six genes (including DCAF5). The pathway analysis showed that NPY-LA was associated with changes in gene transcription, protein modification, immunological functions, and the MAPK pathway. (4) Conclusively, we found NPY-LA to be significantly associated with three loci (DGKH, DCAF5, and LINC02261), and based on our findings we hypothesize that the presence of NPY-LA is associated with the regulation of the immune system and possibly neurologic and vascular disorders.
Subject(s)
Diabetes Mellitus, Type 1 , Autoantibodies/genetics , Case-Control Studies , Diabetes Mellitus, Type 1/genetics , Humans , Neuropeptide Y/genetics , Polymorphism, Single NucleotideABSTRACT
Human parechovirus type 3 (HPeV3) can cause meningoence-phalitis which is difficult to distinguish from enterovirus (EV) or herpes simplex virus (HSV) meningoencephalitis. EV and HSV meningoencephalitis can appear without cerebrospinal fluid (CSF) pleocytosis. Our case was an eight-day-old girl who had seizures but lacked CSF pleocytosis. The diagnosis was HPeV3 meningoencephalitis which is only described in a few studies. Our analysis of these studies showed a tendency of neonates with HPeV3 meningoencephalitis lacking CSF pleocytosis. HPeV3 should be examined at neonatal seizures when CSF pleocytosis is lacking.
