BACKGROUND: The genetic variation which underlies the thermolability and low enzyme activity of 5,10-methylenetetrahydrofolate reductase (MTHFR; C677T) has been extensively studied in many populations, including the Irish population. AIM: To describe the examination of the C677T substitution in two new control samples drawn from the Irish population. METHODS: A collection of 487 serum samples was obtained through the blood transfusion services of both the Republic of Ireland and Northern Ireland and a further 115 samples from volunteers. RESULTS: In both samples, the frequency of the thermolabile/low enzyme activity allele (T) was higher than that previously reported for the Irish population. CONCLUSION: This finding thus supports the need for a greater use of internal control/family-based association studies, as opposed to the classic case control study design, when assessing the contribution of the MTHFR T allele to disease processes.
BACKGROUND: The genetic variation which underlies the thermolability and low enzyme activity of 5,10-methylenetetrahydrofolate reductase (MTHFR; C677T) has been extensively studied in many populations, including the Irish population. AIM: To describe the examination of the C677T substitution in two new control samples drawn from the Irish population. METHODS: A collection of 487 serum samples was obtained through the blood transfusion services of both the Republic of Ireland and Northern Ireland and a further 115 samples from volunteers. RESULTS: In both samples, the frequency of the thermolabile/low enzyme activity allele (T) was higher than that previously reported for the Irish population. CONCLUSION: This finding thus supports the need for a greater use of internal control/family-based association studies, as opposed to the classic case control study design, when assessing the contribution of the MTHFR T allele to disease processes.
Authors: H G Koch; P Nabel; R Junker; K Auberger; R Schobess; A Homberger; M Linnebank; U Nowak-Göttl Journal: Eur J Pediatr Date: 1999-12 Impact factor: 3.183
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Authors: P Frosst; H J Blom; R Milos; P Goyette; C A Sheppard; R G Matthews; G J Boers; M den Heijer; L A Kluijtmans; L P van den Heuvel Journal: Nat Genet Date: 1995-05 Impact factor: 38.330
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