CHROMOSOME 1 MTR 1q43 GENE VIEW MTR · 1q43 1q42 1q44 rs4659744 — ~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 rs4659744 G / A · MTR · 1q43 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs4659744

Gene: MTR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Chr 1:236896158 1q43 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.64065C 0.35935GG 0.419178GC/CG 0.442949CC 0.137873pop=24,820
African G 0.8069C 0.1931GG 0.652753GC/CG 0.308384CC 0.038863pop=5,558
African American G 0.8054C 0.1946GG 0.650841GC/CG 0.309159CC 0.04pop=5,350
African Others G 0.846C 0.154GG 0.701923GC/CG 0.288462CC 0.009615pop=208
Asian G 0.588C 0.412GG 0.315789GC/CG 0.54386CC 0.140351pop=114
East Asian G 0.59C 0.41GG 0.318182GC/CG 0.545455CC 0.136364pop=88
European G 0.58934C 0.41066GG 0.346734GC/CG 0.485217CC 0.16805pop=17,114
Latin American 1 G 0.697C 0.303GG 0.473684GC/CG 0.447368CC 0.078947pop=228
Latin American 2 G 0.57C 0.43GG 0.351621GC/CG 0.436409CC 0.21197pop=802
Other G 0.639C 0.361GG 0.405765GC/CG 0.465632CC 0.128603pop=902
Other Asian G 0.58C 0.42GG 0.307692GC/CG 0.538462CC 0.153846pop=26
South Asian G 0.696C 0.304GG 0.490196GC/CG 0.411765CC 0.098039pop=102

Studies5

Unread Studies5
1
The current study aimed to assess the effect of dietary calcium intake and possible interactions with calcium-sensing receptor (CASR) gene polymorphisms on colorectal cancer risk…
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… Newly noted polymorphisms of DHFR (rs1677693 & rs1643659) have 30% decreased risk while MTR polymorphism (rs4659744) has 25% decreased risk of colon cancer only in the …
3
PID
OBJECTIVE The goal of the present study was to assess the relationship between the genetic variability in six genes of methyl group (CH(3)) metabolism and the risk of obesity. METHODS Single nucleotide polymorphisms (SNP) were selected among the methylene-tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystationine betha-syntase (CBS), transcobalamin-II (TCN2) and paraoxonase-1 (PON1) genes. The associations between SNPs and the risk of obesity were assessed in a case-control study of obese and normal-weight adolescents (age: 14.9±1.2 years), and the relationship between SNPs and body fat markers (i.e., body mass index [BMI], percentage body fat [BF%] and waist circumference [WC]) in a cross-sectional study of 1 155 European adolescents (age: 14.8±1.4 years). Genotyping was performed on an Illumina system and plasma folate level was determined by immunoassay. RESULTS In the case-control study, there was no evidence for any association between SNPs of MTHFR, MTR, CBS, TCN2 and PON1 and obesity (all p values ≥0.08). In contrast, two SNPs of MTRR were associated with a higher (rs10520873, Odds Ratio: 1.68 [1.18-2.39]; p=0.004) or lower (rs1801394, 0.61 [0.42-0.87]; p=0.007) risk of obesity. In the cross-sectional sample, rs1801394 was associated with lower BMI (p=0.03) and lower waist circumference (p=0.02). However, after Bonferroni correction these associations were no longer significant. No other significant association or interaction between folate levels and SNPs were detected for anthropometric variables. CONCLUSION Our findings do not support an association between MTHFR, MTR, CBS, TCN2 and PON1 SNPs and obesity in adolescence. Further investigations are necessary to confirm the possible association between the rs1801394 variant of MTRR and obesity.
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… These two linked (r 2 = 0.99) tagSNPs and one tagSNP in the MTR gene (rs4659744) were significantly associated with reduced colorectal cancer risk only among individuals not using …
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Alleles major/minor Position GSR (%) rs3917538 G/A intron 5 100 rs662 A/G exon 6 100 rs3917550 G/A intron 7 100 rs854555 C/A intron 8 100 rs854552 A/G exon 9 100 rs854551 G/A …
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.

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Unused Studies0

No unused studies.