Genetics Research
rs2479409
Gene: PCSK9 — Proprotein Convertase Subtilisin/Kexin Type 9
Chr 1:55038977
1p32.3
2KB upstream variant
Population Frequencies12
African
G 0.26362A 0.73638GG 0.070561GA/AG 0.386111AA 0.543329pop=62,868
African American
G 0.26434A 0.73566GG 0.070704GA/AG 0.387275AA 0.542021pop=60,732
African Others
G 0.243A 0.757GG 0.066479GA/AG 0.352996AA 0.580524pop=2,136
Asian
G 0.64848A 0.35152GG 0.425543GA/AG 0.445881AA 0.128576pop=11,604
East Asian
G 0.6668A 0.3332GG 0.445933GA/AG 0.441792AA 0.112275pop=8,212
European
G 0.348598A 0.651402GG 0.121816GA/AG 0.453564AA 0.424619pop=433,998
Latin American 1
G 0.38599A 0.61401GG 0.153131GA/AG 0.465713AA 0.381156pop=10,762
Latin American 2
G 0.62385A 0.37615GG 0.398166GA/AG 0.451376AA 0.150459pop=20,936
Other
G 0.40086A 0.59914GG 0.174174GA/AG 0.453364AA 0.372462pop=32,014
Other Asian
G 0.6041A 0.3959GG 0.376179GA/AG 0.455778AA 0.168042pop=3,392
South Asian
G 0.2471A 0.7529GG 0.069575GA/AG 0.355052AA 0.575373pop=3,622
Studies11
Unread Studies11 ▼
1
Circulating proprotein convertase subtilisin/kexin type 9 (PCSK9) is a crucial regulator of cholesterol metabolism. Loss-of-function variants in PCSK9 are associated with lower levels of circulating low-density lipoprotein cholesterol (LDL-C) and reduced cardiovascular disease (CVD) risk, while gain-of-function variants correlate with elevated LDL-C concentrations and increased CVD risk. This study investigated whether genetically determined LDL-C levels, proxied by four PCSK9 genetic variants,…
2
The proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates lipid metabolism, inflammation and haemostasis. Pathogenic gain-of-function variants in the PCSK9 gene are causative of autosomal-dominant form of familial hypercholesterolemia, while several PCSK9 alleles have been associated with elevated levels of low-density lipoprotein cholesterol (LDL-C) and an increased risk of cardiovascular disease. Elevated lipoprotein(a) (Lp(a)) levels, regardless of LDL-C levels, as well as functiona…
3
The primary objective was to comprehensively assess the association between single nucleotide polymorphisms (rs562556 and rs2479409) in the PCSK9 gene with biochemical parameters - C-reactive protein (CRP), glucose (GLU), triglyceride (TAG), low-density lipoprotein cholesterol (LDL CHOL), non-high-density lipoprotein cholesterol (non HDL CHOL), high-density lipoprotein cholesterol (HDL CHOL), cholesterol (CHOL), and anthropometric parameters (visceral fat), overweight/obesity and cardiovascular…
4
Suicide attempts are an emerging health problem around the world. Increased levels of IL-6 have been associated with suicidal behavior. Therefore, the aims of this study were to evaluate the serum levels of IL-6 in individuals with suicide attempts and a comparison group and to associate the IL-6 levels with the lethality of the suicide attempt. Additionally, we associated the rs2228145 polymorphism of the IL6R gene with suicide attempts or with the IL-6 serum levels. Suicide attempts and their…
5
As obesity, circulating lipids and other vascular/metabolic factors influence the risk of stroke, we examined if genetic variants associated with these conditions are related to risk of stroke using a case-control study in Galicia, Spain. A selection of 200 single-nucleotide polymorphisms previously found to be related to obesity, body mass index, circulating lipids, type 2 diabetes, heart failure, obesity-related cancer and cerebral infarction were genotyped in 465 patients diagnosed with strok…
6
Coronary artery disease (CAD) is a chronic, inflammatory, and complex disease associated with vascular risk factors. Nowadays, the coronary artery calcium (CAC) is a specific marker of the presence and extent of atherosclerosis. Additionally, CAC is a predictor of future coronary events in asymptomatic individuals diagnosed with subclinical atherosclerosis (CAC > 0). In this study, our aim is to evaluate the participation of two polymorphisms of the PCSK9 gene as genetic markers for developin…
7
Therapeutic inhibition of PCSK9 protects against coronary artery disease (CAD) and ischemic stroke (IS). The impact on other diseases remains less well characterized. We created a genetic risk score (GRS) for PCSK9 using four single nucleotide polymorphisms (SNPs) at or near the PCSK9 locus known to impact lower LDL-Cholesterol (LDL-C): rs11583680, rs11591147, rs2479409, and rs11206510. We then used our GRS to calculate weighted odds ratios reflecting the impact of a genetically determined 10 mg…
8
Risk factors for abdominal aortic aneurysm (AAA) are largely unknown, which has hampered the development of nonsurgical treatments to alter the natural history of disease. To investigate the association between lipid-associated single-nucleotide polymorphisms (SNPs) and AAA risk. Genetic risk scores, composed of lipid trait-associated SNPs, were constructed and tested for their association with AAA using conventional (inverse-variance weighted) mendelian randomization (MR) and data from internat…
9
Recently, several human genetic and genomewide association studies (GWAS) have discovered many genetic loci that are associated with the concentration of the blood lipids. To confirm the reported loci in Chinese population, we conducted a crosssection study to analyse the association of 25 reported SNPs, genotyped by the ABI SNaPshot method, with the blood levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides…
10
Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects…
11
Insights into genetic origin of diseases and related traits could substantially impact strategies for improving human health. The results of genome-wide association studies (GWAS) are often positioned as discoveries of unconditional risk alleles of complex health traits. We re-analyzed the associations of single nucleotide polymorphisms (SNPs) associated with total cholesterol (TC) in a large-scale GWAS meta-analysis. We focused on three generations of genotyped participants of the Framingham He…
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
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Unused Studies0 ▼
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