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Publication year
2005Source
European Journal of Human Genetics, 13, 6, (2005), pp. 753-762ISSN
Publication type
Article / Letter to editor

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Organization
Health Evidence
Internal Medicine
Paediatrics - OUD tm 2017
Former Organization
Epidemiology, Biostatistics & HTA
Journal title
European Journal of Human Genetics
Volume
vol. 13
Issue
iss. 6
Page start
p. 753
Page end
p. 762
Subject
EBP 1: Determinants in Health and Disease; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 5: Health aging / healthy living; IGMD 6: Hormonal regulation; NCEBP 14: Cardiovascular diseases; NCEBP 1: Molecular epidemiology; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 2.2: Vascular medicine and diabetes; UMCN 5.2: Endocrinology and reproductionAbstract
Elevated levels of homocysteine are a risk factor for vascular disease, thrombosis, neural tube defects and dementia. The 677C>T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene appears to be the most important single determinant of plasma homocysteine concentration. In the current study, we estimated heritability and fit a series of models of inheritance for both fasting and postmethionine-load homocysteine levels in the HOFAM-study (HOmocysteine in FAMilies study), which included 306 participants from 51 pedigrees, ascertained through a hyperhomocysteinemic proband. The crude heritability was 21.6% for fasting and 67.5% for postloading homocysteine. After adjustment for MTHFR 677C>T genotype, heritability dropped to 5.2 and 63.9%, respectively. Segregation analysis revealed that a nongenetic model with equal transmission was the best fitting and most parsimonious model for fasting homocysteine levels, while a two-distribution, Mendelian model with residual familial correlation was best for postmethionine-load homocysteine levels. This study shows that postload homocysteine levels have a stronger genetic determination than do fasting homocysteine levels. The heritability of postload homocysteine levels were not strongly affected by adjustment for MTHFR 677C>T genotype, in contrast to fasting homocysteine levels. Further studies are needed to identify the genes responsible for the inheritance of postload homocysteine levels.
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- Faculty of Medical Sciences [80020]
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