Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only
Braz. j. med. biol. res
;
41(8): 689-693, Aug. 2008. tab
Article
in English
| LILACS
| ID: lil-491919
ABSTRACT
In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela) collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations) between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by population-specific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase) and RFC1 (reduced folate carrier 1) were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.
Full text:
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Index:
LILACS (Americas)
Main subject:
Membrane Transport Proteins
/
Cleft Lip
/
Cleft Palate
/
Folic Acid
Type of study:
Controlled clinical trial
/
Risk factors
Limits:
Female
/
Humans
/
Infant, Newborn
Country/Region as subject:
South America
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2008
Type:
Article
/
Project document
Affiliation country:
Brazil
/
United States
Institution/Affiliation country:
Fundação Oswaldo Cruz/BR
/
Universidade Federal do Rio de Janeiro/BR
/
University of Pittsburgh/US
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