rs1979277, SHMT1

N. diseases: 45
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.030 GeneticVariation BEFREE Still, the influence of the 1420 C>T polymorphism of the cSHMT gene on the folate-related risk of NTD needs further investigation. 11386852 2001
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C1420T), and a double (2R2R) or triple (3R3R) 28-bp tandem repeat in the promoter region of thymidylate synthase (TS) were studied and found to modulate ALL risk. 11986237 2002
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE Polymorphisms in thymidylate synthase (TS) 28-bp tandem repeats in the promoter region and in cytosolic serine hydroxymethyltransferase (SHMT1 C1420T) have been reported to modulate the risk of adult acute lymphocytic leukemia (ALL). 12604405 2003
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple repeat [3R]-->double repeat [2R], 1494del6, IVS6 -68C>T, 1122A>G, and 1053C>T); 5,10-methylenetetrahydrofolate reductase (MTHFR 677C>T and 1298A>C); serine hydroxymethyltransferase (SHMT1 C1420T); reduced folate carrier (RFC G80A); and methionine synthase (MTR A2756G), making the present study the largest and most comprehensive to date to evaluate associations between genetic polymorphisms in folatemetabolizing genes and NHL risk. 15198953 2004
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.020 GeneticVariation BEFREE Plasma total homocysteine concentrations were highest in the subgroup of me</span>n with both polymorphisms, MTHFR 677C-->T TT and cSHMT 1420C-->T TT, consistent with a higher risk of CVD in this subgroup. 16046727 2005
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.010 GeneticVariation BEFREE In a case-control study, including 768 cases and 709 controls, we investigated the associations between colorectal adenomas and TS tandem repeat and SHMT1 C1420T polymorphisms, and the interplay with B-vitamins. 17113224 2007
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.020 GeneticVariation BEFREE To assess the association between the C to T transition in the methylenetetrahydro folate reductase gene (MTHFR C677T) and the C to T transition in the serine hydroxymethyltransferase ( 1 )gene (SHMT ( 1 ) C1420T) and the increased risk of carcinogenesis of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) in a population of high incident region of Northern China. 17206530 2007
Extrapulmonary Small Cell Carcinoma
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
0.010 GeneticVariation BEFREE Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China. 17206530 2007
Gastric Cardia Adenocarcinoma
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
0.010 GeneticVariation BEFREE To assess the association between the C to T transition in the methylenetetrahydro folate reductase gene (MTHFR C677T) and the C to T transition in the serine hydroxymethyltransferase ( 1 )gene (SHMT ( 1 ) C1420T) and the increased risk of carcinogenesis of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) in a population of high incident region of Northern China. 17206530 2007
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
0.010 GeneticVariation BEFREE The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated. 17206530 2007
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated. 17206530 2007
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.010 GeneticVariation BEFREE MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism. 19440165 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE A nested case-control study within the Nurses' Health Study was used to investigate an association between cSHMT (1420C --> T) and breast cancer risk. 19707223 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE A nested case-control study within the Nurses' Health Study was used to investigate an association between cSHMT (1420C --> T) and breast cancer risk. 19707223 2010
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Vitamin B(12), holo-haptocorrin, and the folate-pathway single-nucleotide polymorphisms MTR 2756A>G and SHMT1 1420C>T have been associated with an increased risk of prostate cancer. 20852008 2010
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.020 GeneticVariation BEFREE Vitamin B(12), holo-haptocorrin, and the folate-pathway single-nucleotide polymorphisms MTR 2756A>G and SHMT1 1420C>T have been associated with an increased risk of prostate cancer. 20852008 2010
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.010 GeneticVariation BEFREE Association between rectal or colon cancer risk and serine hydroxymethyltransferase 1 (SHMT1) C1420T or methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms was assessed. 20920350 2010
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.010 GeneticVariation BEFREE Association between rectal or colon cancer risk and serine hydroxymethyltransferase 1 (SHMT1) C1420T or methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms was assessed. 20920350 2010
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.020 GeneticVariation BEFREE In the Health Professionals Follow-Up Study, the MTHFR rs1801133 genotype was not associated with CVD risk, nor was there an interaction with SHMT1 rs1979277. 21178087 2011
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.010 GeneticVariation BEFREE Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. 21687976 2012
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. 21687976 2012
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate associations of MTHFR C677T and A1298C, MTR A2756G, MTRR A66G, RFC1 A80G, MTHFD1 G1958A, CBS 844ins68, TC2 C776G and A67G, SHMT C1420T and BHMT G742A polymorphisms with HNSCC risk. 22051736 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group. 22134752 2012
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.020 GeneticVariation BEFREE In view of growing body of evidence favouring the association of aberrations in one-carbon metabolism and oxidative stress in the aetiology of coronary artery disease (CAD), we investigated the risk associated with polymorphisms regulating the folate uptake and transport such as the glutamate carboxypeptidase II (GCPII) C1561T, reduced folate carrier 1 (RFC1) G80A and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T. 22147344 2013