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SNP information rs5848

Normal allele: CC

Common variation in the GRN gene is a major risk factor for TDP43-positive frontal temporal dementia.

Polymorphism rs5848 is related to topics like this:

Dementia


Research and publications:

  16251468   Survey of allelic expression using EST mining.

  18192287   Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.

  18723524   Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

  19632744   No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.

  19640594   Recent insights into the molecular genetics of dementia.

  19876635   Sporadic corticobasal syndrome due to FTLD-TDP.

  20061636   GRN variability contributes to sporadic frontotemporal lobar degeneration.

  20197700   Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.

  20711061   Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.

  21047645   rs5848 polymorphism and serum progranulin level.

  21346515   Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically.

  21626010   Human genetics as a tool to identify progranulin regulators.

  21833654   Biomarkers to identify the pathological basis for frontotemporal lobar degeneration.

  22505994   Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia.

  22654721   Recent insights into the involvement of progranulin in frontotemporal dementia.

  24373676   Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.

  24499389   Progranulin gene variability influences the risk for bipolar I disorder, but not bipolar II disorder.

  24581833   Further evidence for plasma progranulin as a biomarker in bipolar disorder.

  24770881   ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.

  24771538   Progranulin protein levels are differently regulated in plasma and CSF.

  25239657   Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

  25470345   Reassessment of risk genotypes (GRN, TMEM106B, and ABCC9 variants) associated with hippocampal sclerosis of aging pathology.

  25578179   Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis.

  26447062   Progranulin genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis.

  26852323   Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.

  27515686   Association Between Progranulin and Gaucher Disease.

  27703466   Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

  28070672   Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network.

  28189700   CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN.

  29230494   Association of polymorphisms in TNF and GRN genes with ankylosing spondylitis in a Chinese Han population.

  29653316   Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

  29926172   Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.

  31376286   Putative risk alleles for LATE-NC with hippocampal sclerosis in population-representative autopsy cohorts.

  32972771   Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia.

  33949651   Association of Granulin rs5848 (C>T) Polymorphism With Severe Acute Respiratory Syndrome Coronavirus 2 Infection and Mortality Rate.

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