Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
9012417
TITLE
Genetic effects on variation in red-blood-cell folate in adults: implications for the familial aggregation of neural tube defects.
ABSTRACT
Recent studies have implicated folic acid as an important determinant of normal human growth, development, and function. Insufficient folate levels appear to be a risk factor for neural tube defects (NTD), as well as for several chronic diseases of adulthood. However, relatively little is known about the factors that influence folate status in the general population. To estimate the relative contribution of genetic and nongenetic factors to variation in folate, we have evaluated red blood cell (RBC) folate levels in 440 pairs of MZ twins and in 331 pairs of DZ twins. The data were best described by a model in which 46% of the variance in RBC folate was attributable to additive genetic effects, 16% of the variance was due to measured phenotypic covariates, and 38% of the variance was due to random environmental effects. Moreover, the correlations for RBC folate in MZ co-twins (r = .46) and in repeat measures from the same individual (r = .51) were very similar, indicating that virtually all repeatable variation in RBC folate is attributable to genetic factors. On the basis of these results, it would seem reasonable to initiate a search for the specific genes that influence RBC folate levels in the general population. Such genes ultimately may be used to identify individuals at increased risk for NTD and other folate-related diseases.
DATE PUBLISHED
1997 Feb
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 1997/02/01
medline 1997/02/01 00:01
entrez 1997/02/01 00:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Mitchell LE Mitchell L E LE Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA. lauramit@mail.med.upenn.edu
Duffy DL Duffy D L DL
Duffy P Duffy P P
Bellingham G Bellingham G G
Martin NG Martin N G NG
INVESTIGATORS
JOURNAL
VOLUME: 60
ISSUE: 2
TITLE: American journal of human genetics
ISOABBREVIATION: Am. J. Hum. Genet.
YEAR: 1997
MONTH: Feb
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0002-9297
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Age Factors
Blood Specimen Collection
Erythrocytes metabolism
Female metabolism
Folic Acid blood
Genetic Predisposition to Disease blood
Humans blood
Likelihood Functions blood
Male blood
Models, Genetic blood
Models, Statistical blood
Neural Tube Defects genetics
Odds Ratio genetics
Risk Factors genetics
Sex Characteristics genetics
Statistics, Nonparametric genetics
Twins, Dizygotic genetics
Twins, Monozygotic genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
935E97BOY8 Folic Acid
OTHER ID's
OTHERID SOURCE
PMC1712395 NLM