Genetics Research
rs1051266
Histidine 27 → Leucine
Gene: SLC19A1 — Solute Carrier Family 19 Member 1
Chr 21:45537880
21q22.3
Missense Variant
Population Frequencies12
African
T 0.60637C 0.39363TT 0.370557TC/CT 0.471635CC 0.157808pop=54,750
African American
T 0.60497C 0.39503TT 0.368492TC/CT 0.472953CC 0.158554pop=53,130
African Others
T 0.6525C 0.3475TT 0.438272TC/CT 0.428395CC 0.133333pop=1,620
Asian
T 0.55195C 0.44805TT 0.304156TC/CT 0.495587CC 0.200257pop=10,876
East Asian
T 0.5561C 0.4439TT 0.308075TC/CT 0.496093CC 0.195832pop=8,446
European
T 0.431086C 0.568914TT 0.187351TC/CT 0.487471CC 0.325178pop=543,782
Latin American 1
T 0.4921C 0.5079TT 0.249591TC/CT 0.485078CC 0.265331pop=9,784
Latin American 2
T 0.43473C 0.56527TT 0.188079TC/CT 0.493293CC 0.318628pop=21,172
Other
T 0.45506C 0.54494TT 0.211297TC/CT 0.48752CC 0.301183pop=27,724
Other Asian
T 0.5374C 0.4626TT 0.290535TC/CT 0.493827CC 0.215638pop=2,430
South Asian
T 0.4143C 0.5857TT 0.17654TC/CT 0.475572CC 0.347888pop=8,474
Studies20
Unread Studies20 ▼
1
Etiologies of neural tube defects (NTDs) are multifactorial. Genetic, epigenetic and environmental factors may contribute to their reported variation in prevalence across the globe. Ethiopia has among the highest reported NTD prevalence globally, making investigation of genetic determinants in this high-risk population particularly important for advancing the understanding of NTD etiology. Genes involved in folate metabolism, such as the reduced folate carrier 1 (RFC1), have been investigated fo…
2
Background: Pharmacogenetic markers associated with the need to switch patients from methotrexate (MTX) to biologic agents in moderate-to-severe psoriasis remain insufficiently studied. The pharmacokinetics of MTX depend on the individual characteristics of the patient, as well as on the function of specific transporters and enzymes involved in its absorption, distribution, metabolism, and elimination; therefore, polymorphisms in genes encoding these proteins may be considered pharmacogenetic pr…
3
The identification of genetic markers that will enable accurate diagnosis and prediction of the therapy outcome is a crucial step in managing rheumatologic and autoimmune diseases. Low-dose methotrexate is a mainstay therapeutic agent for treatment. The objective of this review is to summarize the data on candidate single nucleotide polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and solute carrier family 19 member 1 (SLC19A1) genes involved in methotrexate pathways. Over the past d…
4
Pharmacogenomic (PGx) variants can significantly impact drug response, but limited data exists on their prevalence in Middle Eastern populations. This study aimed to investigate the inheritance of certain markers in candidate pharmacogenes among healthy Saudis. DNA samples from 95 unrelated healthy Saudi participants were genotyped using the Affymetrix Axiom Precision Medicine Diversity Array. Thirty-eight variants in 15 pharmacogenes were analyzed based on their clinical relevance and lack of p…
5
Folate and folic acid (FA) are two forms of vitamin B9, a B-complex nutrient essential for the human body. Folate is the natural form of vitamin B9 and is found in foods such as citrus fruits, leafy green vegetables, and beans. In contrast, FA is the synthetic form and is commonly found in supplements and added to fortified foods. The metabolism of folate and FA plays a crucial role in DNA synthesis and methylation; therefore, understanding the mechanism through which a decrease in folate and FA…
6
Autism spectrum disorders (ASD) are characterized by clinical heterogeneity and may be associated with cerebral folate deficiency (CFD). Among the causes, folate receptor alpha autoantibodies (FRAA) and variants of the SLC19A1 gene are commonly highlighted. The aim of this study was to analyze the rs1051266 variant of the SLC19A1 gene in patients with ASD and CFD and to determine its relationship with clinical and laboratory parameters. The study included 227 children with ASD, 156 of whom had C…
7
Solute carrier (SLC) transporters play a crucial role in facilitating the cellular uptake of various anticancer drugs, such as methotrexate (MTX). This study aimed to analyze the impact of nonsynonymous single nucleotide polymorphisms (SNPs) in SLC19A1, SLCO1B1, and SLCO1B3 on MTX exposure, toxicities, and prognosis in 148 patients with acute lymphoblastic leukemia (ALL). The SLCO1B3 rs7311358 polymorphism was significantly associated with the median dose-normalized MTX concentrations at 24 …
8
Methotrexate (MTX) is an anti-folate chemotherapeutic agent that is considered to be a gold standard in Acute Lymphoblastic Leukemia (ALL) therapy. Nevertheless, toxicities induced mainly due to high doses of MTX are still a challenge for clinical practice. MTX pharmacogenetics implicate various genes as predictors of MTX toxicity, especially those that participate in MTX intake like solute carrier family 19 member 1 (SLC19A1). The aim of the present study was to evaluate the association between…
9
Immunomodulators are important for management of autoimmune diseases and hematological malignancies. Significant inter-individual variation in drug response/reactions exists due to genetic polymorphisms. We describe frequency of identified genetic polymorphisms among Sri Lankans. Sri Lankan data were obtained from an anonymized database of 670 participants. Data on variants and global distribution of Minor Allele frequency (MAF) of other populations (South Asian, Ashkenazi-Jewish, East-Asian, Eu…
10
The disruption of craniofacial developmental pathways during early embryogenesis can lead to conditions such as nonsyndromic cleft lip with or without cleft palate (NSCL/P). Several lines of evidence indicate that inadequate maternal nutrition causes low folate levels during the periconceptional period, resulting in NSCL/P. Although substantial research has been conducted on the possible link between SLC19A1 genetic variants and NSCL/P, the association between SLC19A1 80G>A (rs1051266) and NS…
11
There are currently no validated criteria that entirely explain or predict response to methotrexate (MTX) treatment in rheumatoid arthritis (RA). We tried to identify the connection between three variants (RFC1 G80A (rs1051266), TYMS 2R/3R (rs34743033), and ATIC C347G (rs2372536)) in the folate pathway of MTX metabolism and the response to MTX monotherapy in a cohort of RA cases. A prospective study on 100 RA patients on MTX monotherapy was performed. Disease activity was measured at the start o…
12
Low serum folate levels are inversely related to metabolic associated fatty liver disease (MAFLD). The role of the folate transporter gene (SLC19A1) was assessed to clarify its involvement in lipid accumulation during the onset of MAFLD in humans and in liver cells by genomic, transcriptomic, and metabolomic techniques. Genotypes of 3 SNPs in a case-control cohort were initially correlated to clinical and serum MAFLD markers. Subsequently, the expression of 84 key genes in response to the loss o…
13
Introduction: Methotrexate (MTX) is one of the most important drugs included in the first-line protocols to treat high-grade osteosarcoma (HGOS). Although several polymorphisms have been reported to be associated with drug response or MTX-related toxicity in pharmacogenetic studies, their role in the development of MTX resistance in HGOS is still unclear. Methods: Therefore, in this study, 22 single nucleotide polymorphisms (SNPs) in 4 genes of the folate metabolism, 7 MTX transporter genes, and…
14
Neural tube defects (NTDs) are abnormalities of the brain and spinal cord, which occur as a result of failure in neural tube closure during embryogenesis. Causes of NTDs are complex and multiple, with hereditary, lifestyle, and environmental factors appearing to play a role. In spite of their impact on public health, the role genetics play on NTDs in Ethiopia is lacking. In this study, the role of polymorphisms in MTHFR 677C > T (rs1801133), MTHFR 1298A > C (rs1801131), MTRR 66A > G (rs…
15
Pharmacogenetics is a personalized medicine tool that aims to optimize treatments by adapting them to each individual's genetics, maximizing their efficacy while minimizing their toxicity. Infants with cancer are especially vulnerable, and their co-morbidities have vital repercussions. The study of their pharmacogenetics is new in this clinical field. A unicentric, ambispective study of a cohort of infants receiving chemotherapy (from January 2007 to August 2019). The genotypes of 64 patients un…
16
Wernicke-Korsakoff syndrome (WKS) is commonly associated with chronic alcohol misuse, a condition known to have multiple detrimental effects on thiamine metabolism. This study was conducted to identify genetic variants that may contribute to the development of WKS in individuals with alcohol dependence syndrome through alteration of thiamine transport into cells. Exome sequencing data from a panel of genes related to alcohol metabolism and thiamine pathways were analysed in a discovery cohort of…
17
To investigate the associations between genetic polymorphisms within transporter genes and clinical response to methotrexate (MTX) in Chinese rheumatoid arthritis (RA) patients. A total of 100 RA patients receiving MTX were prospectively followed up for approximately 3 months to determine the clinical response based on several criteria, including European League Against Rheumatism (EULAR) good and moderate response, disease activity score in 28 joint counts - erythrocyte sedimentation rate (DAS2…
18
Although of unknown etiology, some mechanisms associated with the metabolic cycle of folate are speculated to be related to the genesis of amyotrophic lateral sclerosis (ALS). Thus, the aim of the study was to analyze the role of genetic polymorphisms rs1051266 in SLC19A1 gene and rs1805087 in MTR gene and their associations with ALS development. A case-control study was conducted with 101 individuals with ALS and 119 individuals without diagnosis of neurodegenerative diseases, from the Brazilia…
19
Folate has a pivotal role in maintaining different cellular processes including DNA integrity and neurotransmitter levels. Further, folate deficiency was reported in subjects with neuropsychiatric disorders including autism spectrum disorder (ASD). We recruited ASD probands following the Diagnostic and Statistical Manual of Mental Disorder-IV/-5. Severity was assessed by the Childhood Autism Rating Scale2-Standard Test (CARS2-ST). Functional SNPs in reduced folate carrier1 (rs1051266), methylene…
20
BACKGROUND We performed the present study to better elucidate the correlation of reduced folate carrier-1 (RFC1) A80G (rs1051266) polymorphism with the risk of congenital heart disease (CHD). MATERIAL AND METHODS According to the designed search strategy, a systematic literature search was performed through the PubMed, Cochrane Library, Web of Science, EMBASE, CNKI, VIP, and Wan Fang databases to collect published case-control studies on the correlation between RFC1 A80G polymorphism and CHD. Al…
Curated Studies0 ▼
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