RGD Reference Report - Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease. - Rat Genome Database

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Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease.

Authors: Al-Saqladi, AW  Harper, G  Delpisheh, A  Fijnvandraat, K  Bin-Gadeem, HA  Brabin, BJ 
Citation: Al-Saqladi AW, etal., Hemoglobin. 2010;34(1):67-77. doi: 10.3109/09687630903554111.
RGD ID: 10449420
Pubmed: PMID:20113291   (View Abstract at PubMed)
DOI: DOI:10.3109/09687630903554111   (Journal Full-text)

The frequency of the methylenetetrahydrofolate reductase enzyme (MTHFR) C677T mutation was determined using polymerase chain reaction (PCR) and with measurement of plasma total homocysteine (tHcy), folate, vitamins B6, B12 and disease severity in 102 SS children from Yemen. The homozygous TT genotype for MTHFR C677T was present in 2% (2/102), and heterozygous CT in 10.8% (11/102), giving an allele frequency of 7.35%. The T allele was not associated with raised plasma tHcy or increased disease severity. The mean [+/-SD (standard deviation)] tHcy was 2.8 +/- 1.7 micromol/L, increased with age and was highest in children >10 years (3.6 +/- 2.5 vs. 2.5 +/- 1.2 micromol/L, p <0.05). Whole blood folate and plasma vitamin B12 levels were normal or elevated, and 4% had vitamin B6 deficiency. In Yemeni children with sickle cell disease the frequency of the MTHFR C677T mutation was not higher than expected in the general population and was not associated with disease severity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sickle cell anemia no_associationIAGP 10449420DNA:SNP: :677C>T (human)RGD 
sickle cell anemia no_associationISOMTHFR (Homo sapiens)10449420; 10449420DNA:SNP: :677C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information