rs1805081, NPC1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Obesity
CUI: C0028754
Disease: Obesity
0.830 GeneticVariation GWASDB Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. 19151714 2009
Obesity
CUI: C0028754
Disease: Obesity
0.830 GeneticVariation GWASCAT Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. 19151714 2009
Obesity
CUI: C0028754
Disease: Obesity
0.830 GeneticVariation BEFREE Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann-Pick disease, type C1 rs1805081, fat mass- and obesity-associated gene rs6499640, melanocortin 4 receptor gene rs17782313, and brain-derived neurotrophic factor rs6265) and obesity risk was only observed in children who had moderate-to-low physical activity levels or engaged in sedentary behavior, regardless of which risk alleles they carried. 21527513 2011
Obesity
CUI: C0028754
Disease: Obesity
0.830 GeneticVariation BEFREE In each study, we tested associations of rs4712652 (near-PRL), rs10508503 (near-PTER), rs1424233 (near-MAF) and rs1805081 (NPC1), or proxy variants (r (2)>0.8), with the odds of being overweight and obese, as well as with body mass index (BMI), percentage body fat (%BF) and waist circumference (WC). 22430306 2013
Obesity
CUI: C0028754
Disease: Obesity
0.830 GeneticVariation BEFREE This variant and the previously described His215Arg polymorphism were tested for association with obesity and type 2 diabetes (T2D) in a cohort from Saudi Arabia. 23153210 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Notably, two NPC1 haplotypes were also associated with T2D in men (rs1805081-rs1788799, His-Met: P = 0.0012, OR = 1.54; His-Ile: P = 0.0004, OR = 0.63). 23153210 2012
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP (SBP; P=0.034) and three SNPs were significantly associated with diastolic BP (DBP; GNPDA2 rs10938397: P=0.026; FAIM2 rs7138803: P=0.015; NPC1 rs1805081: P=0.031) after adjustment for age, sex and hypertension status. 23588626 2013