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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Aug 19, 2022
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GPNMB confers risk for Parkinson's disease through interaction with α-synuclein.
Diaz-Ortiz Maria E et al. Science (New York, N.Y.) 2022 8 (6608) eabk0637

Genome-wide association studies (GWAS) have uncovered nearly 100 loci that contribute to risk for Parkinson’s disease (PD), which affects an estimated 6 million people worldwide. However, target genes and biological mechanisms associated with these loci remain largely unexplored. Diaz-Ortiz et al. examined a PD GWAS risk locus on chromosome 7, linking it to the transmembrane protein Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB). GPNMB was found to interact with alpha-synuclein (aSyn),

Ultrarare Coding Variants and Cognitive Function in Schizophrenia—Unraveling the Enduring Mysteries of Neuropsychiatric Genetics
DL Braff et al, JAMA Psychiatry, August 17, 2022

For neuropsychiatric genomics the big picture is that we are looking at a spectrum of common and rare (and ultrarare) variations to understand a whole-brain disorder that seems to involve a complex tapestry encompassing both cortical and subcortical dysfunctions. Synthesizing these findings into a coherent functional neurobiological model of schizophrenia will be our formative challenge.

Pepinemab antibody blockade of SEMA4D in early Huntington's disease: a randomized, placebo-controlled, phase 2 trial.
Feigin Andrew et al. Nature medicine 2022 8

SIGNAL is a multicenter, randomized, double-blind, placebo-controlled phase?2 study established to evaluate pepinemab, a semaphorin?4D (SEMA4D)-blocking antibody, for treatment of Huntington’s disease (HD). The trial enrolled a total of 265?HD gene expansion carriers with either early manifest (EM, n?=?179) or late prodromal (LP, n?=?86) HD, randomized (1:1) to receive 18?monthly infusions of pepinemab (n?=?91 EM, 41?LP) or placebo (n?=?88 EM, 45?LP). Pepinemab was generally well tolerated, with a relatively low frequency of serious treatment-emergent adverse events of 5% with pepinemab compared to 9% with placebo,

Genetics of the human microglia regulome refines Alzheimer's disease risk loci.
Kosoy Roman et al. Nature genetics 2022 8 (8) 1145-1154

Here, we performed transcriptome and chromatin accessibility profiling in primary human microglia from 150 donors to identify genetically driven variation and cell-specific enhancer–promoter (E-P) interactions. Integrative fine-mapping analysis identified putative regulatory mechanisms for 21 AD risk loci, of which 18 were refined to a single gene, including 3 new candidate risk genes (KCNN4, FIBP and LRRC25). Transcription factor regulatory networks captured AD risk variation and identified SPI1 as a key putative regulator of microglia expression and AD risk.

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