Genetics Research
rs2279463
Population Frequencies12
African
A 0.81414G 0.18586AA 0.664752AG/GA 0.298771GG 0.036477pop=57,790
African American
A 0.81412G 0.18588AA 0.664805AG/GA 0.298636GG 0.03656pop=55,854
African Others
A 0.8146G 0.1854AA 0.663223AG/GA 0.302686GG 0.034091pop=1,936
Asian
A 0.92451G 0.07549AA 0.854202AG/GA 0.140621GG 0.005177pop=16,612
East Asian
A 0.92137G 0.07863AA 0.848509AG/GA 0.14572GG 0.005771pop=12,476
European
A 0.876577G 0.123423AA 0.769202AG/GA 0.21475GG 0.016048pop=515,446
Latin American 1
A 0.8876G 0.1124AA 0.788842AG/GA 0.197474GG 0.013684pop=9,500
Latin American 2
A 0.93712G 0.06288AA 0.879701AG/GA 0.11484GG 0.005459pop=19,784
Other
A 0.89006G 0.10994AA 0.793152AG/GA 0.193822GG 0.013026pop=26,870
Other Asian
A 0.934G 0.066AA 0.871373AG/GA 0.125242GG 0.003385pop=4,136
South Asian
A 0.9161G 0.0839AA 0.837922AG/GA 0.156364GG 0.005714pop=3,850
Studies39
Unread Studies39 ▼
1
Impaired kidney function represents a major global health burden. However, therapeutic options are still limited. The understanding of kidney physiology and its influencing genetic …
2
Cisplatin is a commonly used platinum-based chemotherapeutic that causes acute kidney injury (AKI) in a third of patients. Unfortunately, there is a lack of treatment options to mitigate …
3
We recruited a total of 1109 West African adults with HIV and CKD (Group A, 240 participants), HIV without CKD (Group B, 508 participants), advanced CKD from multiple …
4
Despite recent efforts to increase diversity in genome-wide association studies (GWASs), most loci currently associated with kidney function are still limited to European ancestry due to …
5
We reported an adolescent female patient with ADTKD who had been hospitalized at our institution, and clinical tests and renal biopsies were performed on the patient. We …
6
Kronično ledvično bolezen (KLB) še vedno pogosto obravnavamo kot samo eno izmed pridruženih bolezni pri multimorbidnih bolnikih. Ker je bolezen do poznih faz tipično klinično …
7
Renal dysfunctions are associated with increased morbidity and mortality in sickle cell disease (SCD). Early detection and subsequent management of SCD patients at risk …
8
The ten most statistically significant estimated glomerular filtration rate (eGFRcrea)-associated loci from genome-wide association studies (GWAs) are tested for associations with …
9
Though obesity is typically associated with metabolic dysfunction and cardiometabolic diseases, there are both obese individuals who have favorable metabolic profiles (metabolically …
10
End-stage kidney disease (ESKD) incidence rates for African Americans are more than 3 times higher than for European-Americans. This disparity has been only partly …
11
Clonal hematopoiesis of indeterminate potential (CHIP) is an age-related somatic mutagenesis associated with inflammation and increased risk of death due to …
12
Tuberous sclerosis complex (TSC) is caused by mutations in either the TSC1 or TSC2 gene and affects multiple organs, including the kidney. Patients can present with …
13
Genomic DNA is organized in a non-random manner within the mammalian nucleus. How this three-dimensional genome architecture influences cell-type specific …
14
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) accompanied by hemolytic anemia, thrombocytopenia, and acute renal failure due to …
15
The abstinence rate to tobacco after varenicline treatment is moderate and might be partially affected by variability in varenicline concentrations. This study aimed at …
16
Chronic Kidney Disease (CKD), has a high and increasing burden in sub-Saharan Africa. Environmental factors that have been associated to CKD are associated with …
17
Chronic kidney disease (CKD) has become a worldwide public health priority and is estimated to affect approximately 12% of the global population. CKD is associated with an …
18
Over the past decade, genetic association studies have uncovered numerous determinants of kidney function in the general, diabetic, hypertensive, CKD, ESRD, and GN-based study …
19
Definition and categories of CKD The definition and classification of CKD has been standardized by the KDIGO workgroup. It is defined as abnormalities of kidney structure or function, …
20
Chronic kidney disease (CKD) is defined as abnormalities of kidney structure or function with implications for health, which is present for more than 3 months. Kidney function is mostly …
21
Familial aggregation of chronic kidney disease and its component phenotypes—reduced glomerular filtration rate, proteinuria and renal histologic changes—has long been recognized. …
22
Crizotinib, a tyrosine kinase inhibitor, exhibits some cases of an increase in serum creatinine levels. Creatinine is excreted by not only glomerular filtration but also active secretion by …
23
The work described in this dissertation aimed to better understand the genetic and epigenetic factors influencing chronic kidney disease (CKD) development. Genome-wide association …
24
… In addition, several single-nucleotide polymorphisms of OCT2 (rs2504954, rs2279463, and rs316009) have been associated with creatinine secretion and/or metabolism, and increases …
25
Kidney measures in early life are associated with kidney disease in later life. We hypothesized that these associations are partly explained by common genetic variants that …
26
PART I To evaluate the role of MMP-13, a catabolic enzyme, in osteoarthritis (OA) pathogenesis, we utilized a case-control study design to analyze cartilage samples obtained from 48 …
27
Chronic kidney disease (CKD) is a worldwide public health problem. In the United States, both incidence and prevalence of CKD are rising, leading to increasing morbidity, mortality, …
28
Metformīns ir pirmās izvēles medikaments jaundiagnosticētu 2. tipa cukura diabēta (T2DM) pacientu ārstēšanā. Mēs identificējām asociāciju starp metformīna blakusparādībām un 2 …
29
Like in many other common complex disorders, studies of chronic kidney disease (CKD) can now make use of the increasing knowledge of the human genome, its variations and impact …
30
Распространенность хронической болезни почек (ХБП) сопоставима с такими социально значимыми заболеваниями, как гипертоническая болезнь и сахарный диабет, а …
31
Memantine, a frequently prescribed anti-dementia drug, is mainly eliminated unchanged by the kidneys, partly via tubular secretion. Considerable inter-…
32
… Such a link between polymorphisms of hOCT2 and serum creatinine levels has already been observed in studies done in adults that identified rs2279463 (located in the OCT2 gene …
33
Smaller kidneys with reduced number of nephrons in early life lead to impaired kidney function and risk for hypertension and chronic kidney disease. These …
34
Chronic kidney disease (CKD) is an increasing global public health concern, particularly among populations of African ancestry. We performed an interrogation of known renal loci, …
35
Aspirin-intolerant asthma (AIA) is a clinical syndrome characterized by acute bronchoconstriction following the ingestion of aspirin. Solute carrier family 22, member 2 (…
36
Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed …
37
Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed …
38
We screened DNAs of 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in six genes encoding proteins of the solute carrier (SLC) family by direct sequencing of …
39
Smaller kidneys with reduced number of nephrons in early life lead to impaired kidney function and risk for hypertension and chronic kidney disease. These associations …
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