CHROMOSOME 1 MTHFR 1p36.22 GENE VIEW MTHFR · 1p36.22 1p37 1p35 rs868014 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs868014 A / C · MTHFR · 1p36.22 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs868014

Gene: MTHFR — Methylenetetrahydrofolate Reductase Chr 1:11789390 1p36.22 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies8

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Total A 0.031077G 0.968923AA 0.005674AG/GA 0.050807GG 0.943519pop=107,860
African A 0.186G 0.814AA 0.039208AG/GA 0.293575GG 0.667217pop=14,538
African American A 0.18332G 0.81668AA 0.038002AG/GA 0.290635GG 0.671364pop=14,052
African Others A 0.263G 0.737AA 0.074074AG/GA 0.378601GG 0.547325pop=486
European A 0.0007G 0.9993AA 0AG/GA 0.001402GG 0.998598pop=68,456
Latin American 1 A 0.0642G 0.9358AA 0.004843AG/GA 0.118644GG 0.876513pop=3,304
Latin American 2 A 0.0121G 0.9879AA 0AG/GA 0.024196GG 0.975804pop=6,282
Other A 0.02114G 0.97886AA 0.001761AG/GA 0.038748GG 0.959491pop=14,762

Studies41

Unread Studies41
1
Human aneuploid conception, a leading cause of infertility, pregnancy loss, and congenital disorders (eg Down’s syndrome), arises from errors in chromosome …
2
目的 基于网络药理学探讨调周滋阴方治疗早发性卵巢功能不全(POI)的作用机制,通过动物实验 进行验证,并设计临床对照试验验证调周滋阴方对该病的临床疗效. 方法 利用TCMSP,PubChem,…
3
Natural selection occurs at multiple levels of organization in cancer. At an organismal level, natural selection has led to the evolution of diverse tumor suppression mechanisms, while at …
4
Ischemic stroke, which accounts for 87% of cerebrovascular accidents, is responsible for massive global burden both in terms of economic cost and personal hardship. Many stroke …
5
Введение. Важной проблемой современной ангионеврологии является цереброваскулярная патология у лиц молодого возраста. Рост распространённости инфаркта мозга у …
6
To investigate the influence of the Single Nucleotide Polymorphisms (SNPs) TP53 rs1625895, TP73 rs3765730, MMP9 rs17576, and MTHFR rs868014 on ovarian reserve (…
7
This study investigates the association between the C14orf119 gene rs6736 polymorphism and ischemic stroke (IS) susceptibility, and explores the influence of the rs6736 …
8
Cerebral infarction/ischemia-reperfusion injury is currently the disease with the highest mortality and disability rate of cardiovascular disease. Current studies have shown that nerve …
9
… For example, miR-1203 binds to polymorphism rs868014 located on the 3′UTR of MTHFR, which is related not only to the risk but also to the short-term outcome of IS [20]. Similarly, …
10
Ishemijski moždani udar (IMU) nastaje usled okluzije krvnog suda embolusom, ili trombozom in situ u određenim regionima mozga. Centralna zona ishemije, sa terapijskog aspekta, od …
11
Collateral density variations are a major determinant of stroke outcome. Here, we explored the association of missense variants in hypoxia-induced VEGFA/VEGFR2 signaling and …
12
同型半胱氨酸作为脑卒中的独立危险因素, 与卒中发病率, 复发率及预后均密切相关, 在不同的 卒中亚型中水平各有差异, 致病机制主要涉及血管内皮损伤, 平滑肌细胞增生, 凝血及脂肪代谢…
13
Recent years have seen an increase in interest in the identification of additional genetic factors for cerebral stroke. A large number of studies have been run with the aim of verifying …
14
缺血性脑卒中(IS) 是脑组织缺血坏死引起的神经功能障碍性疾病, 其发生发展是遗传因素和环境 危险因素共同作用的结果. 微小RNA (miRNA) 通过与靶基因mRNA 3'端非编码区(3'-UTR) 碱基…
15
Insulin resistance plays a major role in metabolic syndrome and is recognized as the most common risk factor for non-alcoholic fatty liver disease (NAFLD). Identifying …
16
Uvod: Ishemijski moždani udar (IMU) nastaje usled okluzije krvnog suda embolusom, ili trombozom in situ u određenim regionima mozga. Centralna zona ishemije, sa terapijskog …
17
To assess promoter methylation levels, gene expression levels and 677C>T/1298A>C genotype and allele frequencies of the MTHFR gene in 45 mothers of attention-deficit/…
18
Количество лиц с ишемическим инсультом в молодом возрасте в настоящее время увеличивается. Одним из независимых факторов риска признается гипергомоцистеинемия…
19
Oxygen and glucose deprivation (OGD)-re-oxygenation (OGDR) stimulation to the human endometrial cells mimics ischemia-reperfusion injury. Cyclophilin D (CypD)-dependent …
20
Number of young people with ischemic stroke increases at the present. One of independent risk factors of stroke is hyperhomocysteinemia, wich can be caused by genetic …
21
Polyunsaturated fatty acids (PUFAs) play important roles in health and disease. PUFA levels are influenced by nutrition and genetic factors. The relationship between PUFA composition …
22
Apolipoprtein-A1 (APO-A1) is the essential material for transport cholesterol in revers process and may play important role in cholesterol overload in body. Therefore, Apo-A1 play …
23
miRNAs are small non-coding RNAs modulating gene expression, and variants in miRNA genes are involved in the pathogenesis of ischemic stroke (IS). However, the effect of miR-34a …
24
… Выяснено, что полиморфизм A222 V MTHFR (rs868014) приводит к снижению ферментативной активности этого фермента, о чём свидетельствует более высокое …
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The influences of genetic variants on functional clinical outcomes following stroke are unclear. In order to reliably quantify these influences, we undertook a comprehensive …
26
In this paper, based on the association of methylenetetrahydrofolate reductase (MTHFR) with type 2 diabetes (T2D), we evaluated the association of polymorphism with morbidly obesity …
27
… Endothelial and vascular health (homocysteine metabolism) rs868014 *in 3′-UTR* … discovered a relationship between ischemic stroke and a third MTHFR variant (rs868014), which …
28
The association between the genetic polymorphisms located in either the exon or untranslated region of MTHFR and the risk of human atherosclerosis has been well-…
29
Matrix metalloproteinase 9 (MMP9), a potent endopeptidase degrading extracellular matrix, plays a pivotal role in the pathogenesis of ischaemic stroke (IS). The …
30
Germline pharmacogenetics has so far mainly studied common variants in “pharmacogenes,” ie, genes encoding drug metabolizing enzymes and transporters (DMET genes), certain …
31
The association between genetic polymorphisms in the exon or untranslated region of the methylenetetrahydrofolate reductase gene (MTHFR) and the risk of human …
32
Controlled ovarian stimulation with gonadotrophins is an essential part of in-vitro fertilization treatment. The aim is to produce an optimum number of oocytes to maximize success in the …
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… patients carrying the MTHFR rs868014 TC or CC … rs868014 was strongly linked with the MTHFR A1298C polymorphism. Conclusion: This study demonstrates that the MTHFR rs868014 …
34
Cerebrovascular disease is the leading cause of disability in adults. Independent of clinical variables such as infarct size and location, stroke subtype, and vascular risk factors, …
35
Effective therapeutics in stroke are presently limited by a lack of translation from basic science to the clinic. Accumulation of excess plasma homocysteine is a risk factor for stroke. The B-…
36
Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) play important roles in tumor development, progression, and metastasis. Moreover, recent studies have reported …
37
Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) play important roles in tumor development, progression and metastasis. Moreover, recent studies have reported …
38
Choline metabolism is important for very low-density lipoprotein secretion, making this nutritional pathway an important contributor to hepatic lipid balance. The purpose of this study …
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Stroke, known as the main cause of morbidity, mortality and disability in developing countries, continues to be a health problem in the world. Stroke incidence is increasing especially in …
40
Homocysteine, as an independent risk factor for stroke, is closely related to the incidence, recurrence rate and prognosis of stroke. Homocysteine level varies in different stroke subtypes…
41
Natural cycle IVF Natural cycle IVF relies on the woman's natural menstrual cycle without using or with minimal use of fertility medications. Success rates with natural cycle IVF can be …
Curated Studies0

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Unused Studies0

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