Publications by authors named "J H Faraco"
Article Synopsis
- * The study analyzed over 6,000 NT1 cases and identified new genetic associations (e.g., CD207, NAB1) tied to immune response, particularly involving T cells.
- * Results suggest that genetic factors in NT1 also relate to other autoimmune diseases, indicating a shared immune mechanism influenced by environmental factors like infections and vaccinations.
Article Synopsis
- - Kleine-Levin syndrome (KLS) is a rare disorder causing severe episodes of sleepiness, cognitive issues, and changes in behavior, with unclear causes linked to brain activity and difficult births.
- - A global study identified a significant genetic association (rs71947865) related to KLS, particularly prevalent in patients with difficult birth histories and previously connected to bipolar disorder and schizophrenia.
- - Despite variations in findings across different sample sizes, the research highlights potential genetic and environmental factors, specifically involving circadian rhythms, that may contribute to the risk of developing KLS.
Introduction: A previous study has suggested that the Human Leukocyte Antigen (HLA) allele DQB1*06:02 affects hypoxic ventilatory response (HVR) but not hypercapnic ventilatory response (HCVR) in an Asian population. The current study evaluated the relationship in Caucasians and Asians. In addition we assessed whether gender or polymorphisms in genes participating in the control of breathing affect HVR and HCVR.
View Article and Find Full Text PDFType 1 narcolepsy, an autoimmune disease affecting hypocretin (orexin) neurons, is strongly associated with HLA-DQB1*06:02. Among polymorphisms associated with the disease is single-nucleotide polymorphism rs2305795 (c.*638G>A) located within the P2RY11 gene.
View Article and Find Full Text PDFType 1 narcolepsy, a disorder caused by a lack of hypocretin (orexin), is so strongly associated with human leukocyte antigen (HLA) class II HLA-DQA1(∗)01:02-DQB1(∗)06:02 (DQ0602) that very few non-DQ0602 cases have been reported. A known triggering factor for narcolepsy is pandemic 2009 influenza H1N1, suggesting autoimmunity triggered by upper-airway infections. Additional effects of other HLA-DQ alleles have been reported consistently across multiple ethnic groups.
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