rs1136410
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.4 | 0.80x reduced risk for glioblastoma as well a 84% in CAD risk |
| (C;T) | 2 | 0.80x reduced risk for glioblastoma |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 226367601 |
| Gene | PARP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1136410 |
| dbSNP (classic) | rs1136410 |
| ClinGen | rs1136410 |
| ebi | rs1136410 |
| HLI | rs1136410 |
| Exac | rs1136410 |
| Gnomad | rs1136410 |
| Varsome | rs1136410 |
| LitVar | rs1136410 |
| Map | rs1136410 |
| PheGenI | rs1136410 |
| Biobank | rs1136410 |
| 1000 genomes | rs1136410 |
| hgdp | rs1136410 |
| ensembl | rs1136410 |
| geneview | rs1136410 |
| scholar | rs1136410 |
| rs1136410 | |
| pharmgkb | rs1136410 |
| gwascentral | rs1136410 |
| openSNP | rs1136410 |
| 23andMe | rs1136410 |
| SNPshot | rs1136410 |
| SNPdbe | rs1136410 |
| MSV3d | rs1136410 |
| GWAS Ctlg | rs1136410 |
| GMAF | 0.2443 |
| Max Magnitude | 2.4 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1136410, also known as V762A, is a SNP in the PARP1 Poly(ADP-ribose) polymerase-1 gene. The rs1136410(C) allele encodes the less common A (alanine) amino acid at this codon.
A study of 1,000 glioblastoma multiforme cases and 2,000 controls in the US concluded that the PARP1 gene rs1136410(C) allele was associated with a 20% reduction in risk for glioblastoma multiforme (odds ratio 0.80, CI: 0.67-0.95).[PMID 19318434
]
A meta-analysis of 21 studies with 12,027 cancer patients found no significant association overall between rs1136410 and cancer risk, however, in the stratified analyses, rs1136410(C) was associated with an increased risk of cancer among Asian populations (CT + CC vs. TT: odds ratio 1.11, CI: 1.01-1.23, p(heterogeneity) = 0.210), but a decreased risk of cancer (CT + CC vs. TT: odds ratio 0.89, CI: 0.80-1.00, p(heterogeneity) = 0.004) among Caucasian populations, especially for glioma risk (odds ratio 0.79, CI: 0.69-0.90, p(heterogeneity) = 0.800).[PMID 22127734]
A study of 2803 CAD patients and 2840 controls in a Chinese Han population has found a significantly reduced risk of 84% for the rs1136410 GG polymorphism, but without smoking habit, type 2 diabetes mellitus, and hyperlipidemia. This recessive model protection is highly probable explained due to a decrease of PARP activity. Template:PMID=29184509
[PMID 20150366] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
[PMID 21612407] Lymph Node Metastasis of Gastric Cancer Is Associated with the Interaction Between Poly (ADP-Ribose) Polymerase 1 and Matrix Metallopeptidase 2
[PMID 21129811] Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17203305] Genetic variation in the base excision repair pathway and bladder cancer risk.
[PMID 17220334] High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19249341] Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.
[PMID 19822020] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
[PMID 20353610] Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.
[PMID 20486200] Evaluation of the poly(ADP-ribose) polymerase-1 gene variants in Alzheimer's disease.
[PMID 21385363] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.
[PMID 21420246] Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.
[PMID 22687647] Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.
[PMID 22850545] Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese
[PMID 23633189] Involvement of PARP-1 Val762Ala Polymorphism in the Onset of Cervical Cancer in Caucasian Women
[PMID 24500421] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis
[PMID 23608917] Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment.
[PMID 24853559] PARP-1 Val762Ala Polymorphism and Risk of Cancer: A Meta-Analysis Based on 39 Case-Control Studies
[PMID 24172093] Polymorphisms in base excision repair genes are associated with endometrial cancer risk among postmenopausal Japanese women
[PMID 25106941] Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with oligospermia
[PMID 25911198] Association Between PARP1 Single Nucleotide Polymorphism and Brain Tumors
[PMID 25998844] Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Disease Risk
[PMID 26634519] XRCC1 rs25487 polymorphism is associated with lung cancer risk in epidemiologically susceptible Chinese people.
[PMID 27644669] Association of Poly (ADP-Ribose) Polymerase 1 Variants with Oral Squamous Cell Carcinoma Susceptibility in a South Indian Population.
[PMID 27840165] Associations of PARP-1 variant rs1136410 with PARP activities, oxidative DNA damage, and the risk of age-related cataract in a Chinese Han population: A two-stage case-control analysis.
[PMID 29184509] PARP-1 Variant Rs1136410 Confers Protection against Coronary Artery Disease in a Chinese Han Population: A Two-Stage Case-Control Study Involving 5643 Subjects.
[PMID 31413734] PARP1 gene polymorphisms and neuroblastoma susceptibility in Chinese children.
[PMID 31762827] Genetic variants in RTEL1 influencing telomere length are associated with prostate cancer risk.
[PMID 31983162] Association between PSCA, TNF-α, PARP1 and TP53 Gene Polymorphisms and Gastric Cancer Susceptibility in the Brazilian Population.
[PMID 33108038] Contributions of PARP-1 rs1136410 C>T polymorphism to the development of cancer.
[PMID 33528729] PARP1 rs1136410 C/C genotype associated with an increased risk of esophageal cancer in smokers.
