ArticleAmerican journal of human genetics2006
Genomewide association analysis of human narcolepsy and a new resistance gene.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 63 citations in OpenAlex.
- A genome-wide association scan for asthma in a general Australian population.Human genetics · 2008Trial
- Exploring the Literature on Narcolepsy: Insights into the Sleep Disorder That Strikes during the Day.NeuroSci · 2023Review
- CSNK1G2-AS1 promotes metastasis, colony formation and serves as a biomarker in testicular germ cell tumor cells.Journal of Cancer · 2023Article
- Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.Scientific reports · 2021Article
- lnc-NLC1-C inhibits migration, invasion and autophagy of glioma cells by targeting miR-383 and regulating PRDX-3 expression.Oncology letters · 2021Article
- Long Non-Coding RNAs: Role in Testicular Cancers.Frontiers in oncology · 2021Review
- The role of epigenetics in hypothalamic energy balance control: implications for obesity.Cell stress · 2019Review
- A molecular conundrum involving hypothalamic responses to and roles of long non-coding RNAs following food deprivation.Molecular and cellular endocrinology · 2016Review
- Downregulation of miR-320a/383-sponge-like long non-coding RNA NLC1-C (narcolepsy candidate-region 1 genes) is associated with male infertility and promotes testicular embryonal carcinoma cell proliferation.Cell death & disease · 2015Article
- Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population.Journal of human genetics · 2015Article
- Kidney Diseases Enhance Expression of Tetraspanin-8: A Possible Protective Effect against Tubular Injury.Nephron extra · 2014Article
- Microsatellite scanning of the immunogenome associates MAPK14 and ELTD1 with graft-versus-host disease in hematopoietic stem cell transplantation.Immunogenetics · 2013Article
- Genome-wide gene expression profiling of human narcolepsy.Gene expression · 2012Article
- Sleep physiology, abnormal States, and therapeutic interventions.Ochsner journal · 2012Article
- Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.PloS one · 2012Article
- Genome wide screen identifies microsatellite markers associated with acute adverse effects following radiotherapy in cancer patients.BMC medical genetics · 2010Article
- Hypocretin ligand deficiency in narcolepsy: recent basic and clinical insights.Current neurology and neuroscience reports · 2010Review
- Hypocretin/orexin and narcolepsy: new basic and clinical insights.Acta physiologica (Oxford, England) · 2010Review
- Megakaryoblastic leukemia factor-1 gene in the susceptibility to coronary artery disease.Human genetics · 2009Article
- Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.PloS one · 2009Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human narcolepsy is a hypersomnia that is affected by multiple genetic and environmental factors. One genetic factor strongly associated with narcolepsy is the HLA-DRB1*1501-DQB1*0602 haplotype in the human leukocyte antigen region on chromosome 6, whereas the other genetic factors are not clear. To discover additional candidate regions for susceptibility or resistance to human narcolepsy, we performed a genomewide association study, using 23,244 microsatellite markers. Two rounds of screening with the use of pooled DNAs yielded 96 microsatellite markers (including 16 markers on chromosome 6) with significantly different estimated frequencies in case and control pools. Markers not located on chromosome 6 were evaluated by the individual typing of 95 cases and 95 controls; 30 markers still showed significant associations. A strong association was displayed by a marker on chromosome 21 (21q22.3). The surrounding region was subjected to high-density association mapping with 14 additional microsatellite markers and 74 SNPs. One microsatellite marker (D21S0012m) and two SNPs (rs13048981 and rs13046884) showed strong associations (P < .0005; odds ratios 0.19-0.33). These polymorphisms were in a strong linkage disequilibrium, and no other polymorphism in the region showed a stronger association with narcolepsy. The region contains three predicted genes--NLC1-A, NLC1-B, and NLC1-C--tentatively named "narcolepsy candidate-region 1 genes," and NLC1-A and NLC1-C were expressed in human hypothalamus. Reporter-gene assays showed that the marker D21S0012m in the promoter region and the SNP rs13046884 in the intron of NLC1-A significantly affected expression levels. Therefore, NLC1-A is considered to be a new resistance gene for human narcolepsy.
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