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Reduced folate carrier 1 (RFC 1) is associated with cleft of the lip only

Vieira, AR and Cooper, ME and Marazita, ML and Castilla, EE and Orioli, IM (2008) Reduced folate carrier 1 (RFC 1) is associated with cleft of the lip only. Brazilian Journal of Medical and Biological Research, 41 (8). 689 - 693. ISSN 0100-879X

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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 carder 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.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
Cooper, ME
Marazita, MLmarazita@pitt.eduMARAZITA
Castilla, EE
Orioli, IM
Date: 1 January 2008
Date Type: Publication
Journal or Publication Title: Brazilian Journal of Medical and Biological Research
Volume: 41
Number: 8
Page Range: 689 - 693
DOI or Unique Handle: 10.1590/s0100-879x2008000800009
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0100-879X
MeSH Headings: African Continental Ancestry Group; Cleft Lip--ethnology; Cleft Lip--genetics; Cleft Palate--ethnology; Cleft Palate--genetics; DNA, Mitochondrial--genetics; European Continental Ancestry Group; Female; Folic Acid--analogs & derivatives; Folic Acid--genetics; Genetic Markers; Genetic Predisposition to Disease--genetics; Haplotypes; Humans; Indians, South American; Infant, Newborn; Membrane Transport Proteins--genetics; Polymorphism, Genetic; Reduced Folate Carrier Protein; South America
PubMed ID: 18797703
Date Deposited: 20 Sep 2012 20:14
Last Modified: 03 Oct 2022 20:34


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