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Common polymorphisms in methylenetetrahydrofolate reductase (MTHFR): relationships with plasma homocysteine concentrations and cognitive status in elderly northern italian subjects.
Arch Gerontol Geriatr Suppl. 2004AG

Abstract

Hyperhomocysteinemia may be a risk factor for cognitive impairment. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in homocysteine (Hcy) metabolism. Both the MTHFR 677C-->T and the 1298A-->C polymorphisms are associated with mild hyperhomocysteinemia, particularly in conditions of low folate status. The prevalence of these MTHFR polymorphisms and their relationships with plasma total Hcy (tHcy), serum folate and cognitive function was evaluated in 194 elderly Italian individuals: 122 healthy controls (73.8 +/- 7.1 years of age), 24 cognitively- impaired- not-demented individuals (78.6 +/- 9.3 years), and 48 subjects with Alzheimer dementia (AD = 26), vascular dementia (VD =22; 85.5 +/- 7.0 years). Twenty-one percent of all subjects were homozygous for 677C-->T and 7 % for 1298A-->C polymorphism. No significant relationship was found betweenMTHFR polymorphisms and age, cognitive status and type of dementia. Plasma tHcy did not differ significantly by MTHFR genotypes, but, subjects of all genotypes with low serum folate (<12 nmole/l) had higher plasma tHcy (p < 0.001), than subjects with high serum folate (>= 12 nmole/l). The study suggests that 677C-->T and 1298A-->C polymorphisms are common in the Northern Italian population, but do not significantly affect plasma tHcy levels of elderly individuals, even under conditions of low folate status. The lack of association of age and cognitive function with MTHFR genotypes argues against a negative selection for these polymorphisms.

Authors+Show Affiliations

Ravaglia G
University of Bologna, Department of Internal Medicine, Cardioangiology, and Hepatology, University Hospital S. Orsola-Malpighi Via Massarenti 9, I - 40138 Bologna, Italy. ravaglia@med.unibo.it
Forti P
No affiliation info available
Maioli F
No affiliation info available
Scali RC
No affiliation info available
Arnone G
No affiliation info available
Talerico T
No affiliation info available
Pantieri T
No affiliation info available
Nativio V
No affiliation info available
Mantovani V
No affiliation info available
Bianchin M
No affiliation info available

MeSH

AgedAged, 80 and overCatchment Area, HealthCognition DisordersFemaleFolic AcidGene ExpressionHumansHyperhomocysteinemiaItalyMaleMethylenetetrahydrofolate Reductase (NADPH2)Neuropsychological TestsPoint MutationPolymorphism, GeneticPrevalenceRisk FactorsSeverity of Illness Index

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15207432

Citation

Ravaglia, G, et al. "Common Polymorphisms in Methylenetetrahydrofolate Reductase (MTHFR): Relationships With Plasma Homocysteine Concentrations and Cognitive Status in Elderly Northern Italian Subjects." Archives of Gerontology and Geriatrics. Supplement, 2004, pp. 339-48.
Ravaglia G, Forti P, Maioli F, et al. Common polymorphisms in methylenetetrahydrofolate reductase (MTHFR): relationships with plasma homocysteine concentrations and cognitive status in elderly northern italian subjects. Arch Gerontol Geriatr Suppl. 2004.
Ravaglia, G., Forti, P., Maioli, F., Scali, R. C., Arnone, G., Talerico, T., Pantieri, T., Nativio, V., Mantovani, V., & Bianchin, M. (2004). Common polymorphisms in methylenetetrahydrofolate reductase (MTHFR): relationships with plasma homocysteine concentrations and cognitive status in elderly northern italian subjects. Archives of Gerontology and Geriatrics. Supplement, (9), 339-48.
Ravaglia G, et al. Common Polymorphisms in Methylenetetrahydrofolate Reductase (MTHFR): Relationships With Plasma Homocysteine Concentrations and Cognitive Status in Elderly Northern Italian Subjects. Arch Gerontol Geriatr Suppl. 2004;(9)339-48. PubMed PMID: 15207432.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Common polymorphisms in methylenetetrahydrofolate reductase (MTHFR): relationships with plasma homocysteine concentrations and cognitive status in elderly northern italian subjects. AU - Ravaglia,G, AU - Forti,P, AU - Maioli,F, AU - Scali,R C, AU - Arnone,G, AU - Talerico,T, AU - Pantieri,T, AU - Nativio,V, AU - Mantovani,V, AU - Bianchin,M, PY - 2004/6/23/pubmed PY - 2004/10/22/medline PY - 2004/6/23/entrez SP - 339 EP - 48 JF - Archives of gerontology and geriatrics. Supplement JO - Arch Gerontol Geriatr Suppl IS - 9 N2 - Hyperhomocysteinemia may be a risk factor for cognitive impairment. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in homocysteine (Hcy) metabolism. Both the MTHFR 677C-->T and the 1298A-->C polymorphisms are associated with mild hyperhomocysteinemia, particularly in conditions of low folate status. The prevalence of these MTHFR polymorphisms and their relationships with plasma total Hcy (tHcy), serum folate and cognitive function was evaluated in 194 elderly Italian individuals: 122 healthy controls (73.8 +/- 7.1 years of age), 24 cognitively- impaired- not-demented individuals (78.6 +/- 9.3 years), and 48 subjects with Alzheimer dementia (AD = 26), vascular dementia (VD =22; 85.5 +/- 7.0 years). Twenty-one percent of all subjects were homozygous for 677C-->T and 7 % for 1298A-->C polymorphism. No significant relationship was found betweenMTHFR polymorphisms and age, cognitive status and type of dementia. Plasma tHcy did not differ significantly by MTHFR genotypes, but, subjects of all genotypes with low serum folate (<12 nmole/l) had higher plasma tHcy (p < 0.001), than subjects with high serum folate (>= 12 nmole/l). The study suggests that 677C-->T and 1298A-->C polymorphisms are common in the Northern Italian population, but do not significantly affect plasma tHcy levels of elderly individuals, even under conditions of low folate status. The lack of association of age and cognitive function with MTHFR genotypes argues against a negative selection for these polymorphisms. SN - 0924-7947 UR - https://www.unboundmedicine.com/medline/citation/15207432/Common_polymorphisms_in_methylenetetrahydrofolate_reductase__MTHFR_:_relationships_with_plasma_homocysteine_concentrations_and_cognitive_status_in_elderly_northern_italian_subjects_ DB - PRIME DP - Unbound Medicine ER -