Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs429358

Hard Link
rs429358 is a snp on gene APOE (apolipoprotein E)

GeneAPOE Chromosome number 19 Chromosome position 44908684
Alleles C/T Minor Allele C Minor Allele Frequency 0.1506
Notation T471C, 388T>C, Arg130Cys Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense variant. ApoE4, is rs429358 CC with rs7412 TT.
Gene Function
The APOE gene provides instructions for making a protein called apolipoprotein E. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. Lipoproteins are responsible for packaging cholesterol and other fats and carrying them through the bloodstream. Maintaining normal levels of cholesterol is essential for the prevention of disorders that affect the heart and blood vessels (cardiovascular diseases), including heart attack and stroke. There are at least three slightly different versions (alleles) of the APOE gene. The major alleles are called e2, e3, and e4. The most common allele is e3, which is found in more than half of the general population. Mutations in the APOE gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of remnants of chylomicrons (fat droplets absorbed from the intestine) and VLDL (very low density lipoproteins). The e4 version of the APOE gene slightly increases an individual's risk for developing late-onset Alzheimer disease. People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. The APOE e4 allele may also be associated with an earlier onset of memory loss and other symptoms. It is not known how the APOE e4 allele is related to the risk of Alzheimer disease. However, researchers have found that this allele is associated with an increased number of protein clumps, called amyloid plaques, in the brain tissue of affected people. A buildup of toxic amyloid beta peptide and amyloid plaques may lead to the death of neurons and the progressive signs and symptoms of this disorder. It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer disease, not the disease itself. Not all people with Alzheimer disease have the APOE e4 allele, and not all people who have this allele will develop the disease. Variants of apolipoprotein E have been studied extensively as risk factors for many different conditions. For example, APOE alleles have been shown to influence the risk of cardiovascular diseases. People who carry at least one copy of the APOE e4 allele have an increased chance of developing atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. This progressive narrowing of the arteries increases the risk of heart attack and stroke. The APOE e2 allele has been shown to greatly increase the risk of a rare condition called hyperlipoproteinemia type III. Most people with this disorder have two copies of the APOE e2 allele, leading researchers to conclude that the e2 allele plays a critical role in the development of the condition. Hyperlipoproteinemia type III is characterized by increased blood levels of cholesterol, certain fats called triglycerides, and molecules called beta-very low-density lipoproteins (beta-VLDLs), which carry cholesterol and lipoproteins in the bloodstream. A buildup of cholesterol and other fatty materials can lead to the formation of small, yellow skin growths called xanthomas and the development of atherosclerosis. APOE gene variants have also been studied as a potential risk factor for age-related macular degeneration, an eye disease that is a leading cause of vision loss among older people worldwide. Some studies have suggested that having at least one copy of the APOE e4 allele may help protect against this disease or delay the onset of vision loss, while having at least one copy of the APOE e2 allele may increase the risk of this disease or cause symptoms to appear earlier. However, other studies have not found these associations. More research is needed to clarify what role, if any, APOE gene variants play in the development of age-related macular degeneration. APOE is made principally in the liver, but has also been found in other tissues such as the brain, kidneys, and spleen. In the field of immune regulation a growing number of studies point to the interaction of APOE with many immunological processes involved in inflammation. Chicory may benefit reduced function of APOE by increasing levels of gut bacteria which can repair damage to artery walls.
GWAS Pathologies
Cerebrospinal AB1-42 levels in Alzheimer's disease dementia (?) ~ Cerebrospinal AB1-42 levels in Alzheimer's disease dementia (?) ~ Alzheimer's disease biomarkers (C) ~ Alzheimer's disease biomarkers (C) ~ Alzheimer's disease biomarkers (?) ~ Alzheimer's disease biomarkers (?) ~ Brain imaging (?) ~ Brain imaging (?)
Pharmacogenomics
Acitretin (C): Psoriasis
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

CURATED





MOST RECENT SEARCHES:
rs8176719 (ABO) | rs77375493 (JAK2) | rs16942 (BRCA1) | rs6730157 (RAB3GAP1) | rs2164210 (LCT) | rs429358 (APOE) | rs11558471 (LOC105375716) | i5006270 (HFE) | rs28939076 (SLC40A1) | rs11568350 (SLC40A1) | rs1799852 (TF)

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