|Disease Association||Defects in NPC1 are the cause of Niemann-Pick disease type D (NPD) (MIM:257220); also known as Niemann-Pick disease without sphingomyelinase deficiency, or Nova Scotian type. Because of evidence from biochemical changes, lack of complementation, and linkage mapping to the same chromosome site, NPD and NPC1 are considered to be allelic disorders.|
|Title||Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations|
|Odds Ratio||1.33 [1.08-1.75]|
[PMID 20843981] Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children
[PMID 21527513] Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity
[PMID 21912638] Studies of metabolic phenotypic correlates of 15 obesity associated gene variants
[PMID 18834923] Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.
[PMID 19553259] Common body mass index-associated variants confer risk of extreme obesity.
[PMID 20127379] From monogenic to polygenic obesity: recent advances.
[PMID 20712903] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
[PMID 22430306] Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples.
|qualified_impact||Low clinical importance, Likely protective|
|summary||This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).|
[PMID 23153210] Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes
[PMID 23424664] Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children
[PMID 24269186] An obesity genetic risk score is associated with metabolic syndrome in Chinese children
[PMID 23471855] The genetics of childhood obesity and interaction with dietary macronutrients.
[PMID 23588626] Associations of obesity susceptibility loci with hypertension in Chinese children.
[PMID 25492288] [Impact of obesity-related gene polymorphism on risk of obesity and metabolic disorder in childhood]
|Disease||not specified Niemann-Pick disease type C1|
|CLNDBN||not specified Niemann-Pick disease type C1|
|CLNSRC||ClinVar Emory University University of Chicago|