rs2075291
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | normal |
| (G;T) | 4x higher risk for high triglyceride levels in Asians | |
| (T;T) | >4x higher risk for high triglyceride levels in Asians |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 116790676 |
| Gene | APOA5, ZPR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2075291 |
| dbSNP (classic) | rs2075291 |
| ClinGen | rs2075291 |
| ebi | rs2075291 |
| HLI | rs2075291 |
| Exac | rs2075291 |
| Gnomad | rs2075291 |
| Varsome | rs2075291 |
| LitVar | rs2075291 |
| Map | rs2075291 |
| PheGenI | rs2075291 |
| Biobank | rs2075291 |
| 1000 genomes | rs2075291 |
| hgdp | rs2075291 |
| ensembl | rs2075291 |
| geneview | rs2075291 |
| scholar | rs2075291 |
| rs2075291 | |
| pharmgkb | rs2075291 |
| gwascentral | rs2075291 |
| openSNP | rs2075291 |
| 23andMe | rs2075291 |
| SNPshot | rs2075291 |
| SNPdbe | rs2075291 |
| MSV3d | rs2075291 |
| GWAS Ctlg | rs2075291 |
| GMAF | 0.01194 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
SNP rs2075291 represents a glycine to cysteine substitution at amino acid 185 of the APOA5 protein; it is also known as p.185Gly>Cys or c.553G>T.
In both Chinese and non-Chinese Asians, the A allele (leading to the cysteine) is associated with higher risk for hypertriglyceridemia. The odds ratio is 4.45 (CI: 2.18-9.07, p<0.001). Heterozygosity was associated with a doubling of triglyceride levels, and all (11) rs2075291(A;A) homozygotes (as oriented relative to dbSNP, not as published) had severe hypertriglyceridemia (mean triglyceride level of 2292 +/- 447 mg/dl).[PMID 18441017
]
[PMID 19732897] Associations of polymorphisms in the apolipoprotein A1/C3/A4/A5 gene cluster with familial combined hyperlipidaemia in Hong Kong Chinese
| ClinVar | |
|---|---|
| Risk | rs2075291(A;A) Rs2075291(T;T) |
| Alt | rs2075291(A;A) Rs2075291(T;T) |
| Reference | Rs2075291(G;G) |
| Significance | Other |
| Disease | Hypertriglyceridemia |
| Variation | info |
| Gene | APOA5 |
| CLNDBN | Hypertriglyceridemia, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000011.9:g.116661392C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004652.3, |
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 21423763] Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels.
[PMID 22517333] Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study.
[PMID 22924697] Interactions between the apolipoprotein a1/c3/a5 haplotypes and alcohol consumption on serum lipid levels.
[PMID 23065249] Apolipoprotein A5 polymorphisms in Turkish population: association with serum lipid profile and risk of ischemic stroke.
[PMID 23178747] Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia.
[PMID 26824674] Interactions of Environmental Factors and APOA1-APOC3-APOA4-APOA5 Gene Cluster Gene Polymorphisms with Metabolic Syndrome.
[PMID 29866721] Effects of polymorphisms in APOA5 on the plasma levels of triglycerides and risk of coronary heart disease in Jilin, northeast China: a case-control study.
