Genetics Research
rs12483377
Population Frequencies12
African
G 0.96316A 0.03684GG 0.928255GA/AG 0.069805AA 0.00194pop=64,952
African American
G 0.96297A 0.03703GG 0.927929GA/AG 0.070093AA 0.001979pop=62,660
African Others
G 0.9682A 0.0318GG 0.937173GA/AG 0.061955AA 0.000873pop=2,292
Asian
G 0.98489A 0.01511GG 0.970068GA/AG 0.029645AA 0.000288pop=13,898
East Asian
G 0.98797A 0.01203GG 0.975932GA/AG 0.024068AA 0pop=10,304
European
G 0.908907A 0.091093GG 0.826515GA/AG 0.164783AA 0.008701pop=569,572
Latin American 1
G 0.9369A 0.0631GG 0.879707GA/AG 0.11439AA 0.005903pop=9,826
Latin American 2
G 0.95618A 0.04382GG 0.913586GA/AG 0.085189AA 0.001225pop=17,960
Other
G 0.92546A 0.07454GG 0.857172GA/AG 0.136581AA 0.006247pop=39,376
Other Asian
G 0.9761A 0.0239GG 0.953255GA/AG 0.045632AA 0.001113pop=3,594
South Asian
G 0.9425A 0.0575GG 0.890094GA/AG 0.104717AA 0.005189pop=8,480
Studies34
Unread Studies34 ▼
1
… The genotype AG of the rs12483377 SNP had significantly lower serum levels of endostatin compared with the homozygous GG genotype (27). Another example is the use of plasma …
2
… an association between rs12483377 and ES levels or outcomes. This discrepancy may be due to the smaller sample size in the first study. Genotype at rs12483377 was not associated …
3
Pulmonary Arterial Hypertension (PAH) is a rare disease caused by the obliteration of the pulmonary arterioles, increasing pulmonary vascular resistance and eventually causing right …
4
… We revealed that the mutant A allele of CLO18A1 rs12483377 was associated with decreased risk of ATDH. Furthermore, the statistical significance of rs12483377 on total protein had …
5
Heterogeneity of asthma complicates search for targeted treatment against airway hyperresponsiveness and remodeling. We conducted a systems biology approach study …
6
Pantothenate kinase-associated neurodegeneration is a rare disease, difficult to diagnose and treat. It is characterized by a progressive extrapyramidal dysfunction with …
7
Pulmonary arterial hypertension (PAH) is an incurable disease characterized by disordered and dysfunctional angiogenesis leading to small-vessel loss and an obliterative …
8
… , α1, and hence ES) and identified one, rs12483377, at higher minor allele frequency (21.6%) … with sufficient follow-up should establish the relevance of rs12483377 to PAH progression. …
9
… A SNP (rs12483377) in Col18a1 was observed at an increased frequency in PAH patients (MAF 21.6) relative to published controls (MAF 7.5), or patients with scleroderma without PAH (…
10
Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. …
11
Beim nicht-kleinzelligen Lungenkarzinom ist die Progredienz der Tumorerkrankung von einer suffizienten Angiogenese abhängig. Die Thrombin-induzierte Aktivierung von PAR-1 auf …
12
We investigated the clinical relevance of SLC 19A1 genetic variability for high dose methotrexate (HD-MTX) related toxicities in children and adolescents with acute …
13
SLC19A1 SNP and haplotype analysis could provide additional information in a personalized HD-MTX therapy for children with ALL/NHML in order to achieve better …
14
We investigated the clinical relevance of SLC19A1 genetic variability for high dose methotrexate (HD-MTX) related toxicities in children and adolescents with acute …
15
Kuwait has one of the highest prevalence of type 2 diabetes (T2D) globally. Modern advancements in genome sequencing technologies with the interest to catalogue global …
16
… , ES levels in this study associated with carrier status of the gene encoding ES (COL18a1 [collagen type XVIII, α 1 ]); in particular, the single-nucleotide polymorphism rs12483377 was …
17
In thesis analysed data reveals which pathogenic genome variants appear in healthy individuals from the general Lithuanian population and which of them have statistically …
18
Describe the experiences of implementing a real-world state-wide T2D and CVD prevention program. Methods: The Life! Program is subjected to constant monitoring and …
19
In thesis analysed data reveals which pathogenic genome variants appear in healthy individuals from the general Lithuanian population and which of them have statistically …
20
… We observed an increased frequency of the A allele (rs12483377) in Col18a1 in our derivation cohort (MAF 21.6) relative to our control subjects (MAF 13.0) and the frequency observed …
21
We sought to validate our observations linking serum ES with disease severity and mortality in PAH in an independent cohort of patients with idiopathic PAH. Further, we …
22
… RFC1 rs12483377 polymorphism associated with NSCLP with Hispanic families but not in non-Hispanic white families [Citation26]. The haplotype-based haplotype relative risk (HHRR) …
23
The aim of this study was to evaluate the association between the efficacy of first-line cytotoxic chemotherapy plus bevacizumab and single-nucleotide polymorphisms (SNPs) …
24
The progress of non-small cell lung cancer (NSCLC) is dependent on sufficient angiogenesis. Thrombin induced activation of proteinase-activated receptor 1 (PAR-1) on platelets leads …
25
Hypoxic environment of pancreatic cancer (PC) implicates high vascular in-growth, which may be influenced by angiogenesis-related germline polymorphisms. Our …
26
We investigated the clinical relevance of SLC19A1 genetic variability for methotrexate (MTX) toxicity in rheumatoid arthritis patients using a haplotype-based approach. Patients & …
27
There is substantial germline genetic variability within angiogenesis pathway genes, thereby causing interindividual differences in angiogenic capacity and resistance to …
28
Angiogenesis has been attributed to be a well-recognized aspect of human cancer biology. As such, proteinase-activated receptor (PAR)-1, endostatin (ES) and interleukin-…
29
… ES +4349 G>A (rs12483377), a polymorphism located within exon 42, has been associated (A/A genotype) with increased prostate cancer risk and impaired function of ES [21]. In our …
30
Endometriosis has a strong genetic component, and numerous genetic studies have been reported. METHODS We have systematically reviewed these studies and …
31
Association studies have become a common and popular method to identify genetic variants predisposing to complex diseases. Despite considerable efforts and initial …
32
Endostatin has achieved much attention as a naturally occurring inhibitor of angiogenesis and tumor growth. Endostatin is derived from collagen XVIII's C‐terminal domain and deleted …
33
… в исследованиях больших популяций генотипированных пациентов с ЛАГ, и последующее наблюдение могут подтвердить значимость изменений варианта rs12483377 в гене …
34
… Buna karşılık, endostatini şifreleyen COL18A1'deki hatalı bir varyant (rs12483377), düşük protein seviyesi ve azalmış mortalite ile ilişkiliydi [22]. Mitokondriyal metabolizma …
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.
No curated studies yet.
Unused Studies0 ▼
No unused studies.