|Disease Association||Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 deficiency) (MIM:600955). This disease is characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.|
[PMID 19528091] Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk Study
[PMID 20534142] Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion
[PMID 21935364] The Effect of PCSK1 Variants on Waist, Waist-Hip Ratio and Glucose Metabolism Is Modified by Sex and Glucose Tolerance Status
[PMID 22307923] Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample
|Title||Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.|
|Odds Ratio||None None|
[PMID 22737226] PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population
[PMID 19164386] Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.
[PMID 19526209] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
[PMID 19876004] Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study.
[PMID 20498726] Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
[PMID 22000902] Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy
[PMID 23383060] Functional Consequences of a Novel Variant of PCSK1
[PMID 23451278] Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population
[PMID 23424664] Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children
[PMID 24140494] Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population
[PMID 24269186] An obesity genetic risk score is associated with metabolic syndrome in Chinese children
|Trait||Glycemic traits (pregnancy)|
|Title||Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.|
|Odds Ratio||.01 [NR] unit decrease|
[PMID 24964673] Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters
[PMID 25492288] [Impact of obesity-related gene polymorphism on risk of obesity and metabolic disorder in childhood]
[PMID 26207343] Revisiting PC1/3 mutants: dominant-negative effect of endoplasmic reticulum-retained mutants