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Genetic evidence for the role of loci at 19q13 in cleft lip and palate.

Warrington, A and Vieira, AR and Christensen, K and Orioli, IM and Castilla, EE and Romitti, PA and Murray, JC (2006) Genetic evidence for the role of loci at 19q13 in cleft lip and palate. Journal of medical genetics, 43 (6).

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BACKGROUND: Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. METHODS: Genotype based linkage disequilibrium analysis was conducted using the family based association test (FBAT) and the likelihood ratio test (LRT). We also carried out direct sequencing of the PVR and PVRL2 candidate genes based on their homology to PVRL1, a gene shown previously to cause Margarita Island clefting. Participants included 434 patients with cleft lip with or without cleft palate or cleft palate only and their mothers from eight countries in South America, 205 nuclear triads (father-mother-affected child) from Iowa, 541 nuclear triads from Denmark, and 100 patients with cleft lip and palate from the Philippines. RESULTS: An allelic variant in the PVR gene showed statistically significant association with both South American and Iowa populations (p = 0.0007 and p = 0.0009, respectively). Direct sequencing of PVR and PVRL2 yielded 26 variants, including two rare amino acid changes, one in each gene, which were not seen in controls. CONCLUSIONS: We found an association between a common variant in a gene at 19q and isolated clefting in two heterogeneous populations. However, it is unclear from our data if rare variants in PVR and PVRL2 are sufficient to cause clefting in isolation.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Warrington, A
Vieira, ARarv11@pitt.eduARV11
Christensen, K
Orioli, IM
Castilla, EE
Romitti, PA
Murray, JC
Date: 1 June 2006
Date Type: Publication
Journal or Publication Title: Journal of medical genetics
Volume: 43
Number: 6
DOI or Unique Handle: 10.1136/jmg.2005.034785
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
MeSH Headings: Alleles; Amino Acid Sequence; Cell Adhesion Molecules; Chromosome Mapping; Chromosomes, Human, Pair 19; Cleft Lip--diagnosis; Cleft Lip--genetics; Cleft Palate--diagnosis; Cleft Palate--genetics; DNA Mutational Analysis; Female; Gene Frequency; Genetic Variation; Humans; Iowa--ethnology; Linkage Disequilibrium; Male; Membrane Glycoproteins--chemistry; Membrane Glycoproteins--genetics; Membrane Proteins--genetics; Molecular Sequence Data; Receptors, Virus--genetics; Sequence Alignment; South America--ethnology
Other ID: NLM PMC2564544
PubMed Central ID: PMC2564544
PubMed ID: 16740910
Date Deposited: 20 Sep 2012 20:35
Last Modified: 20 Feb 2020 13:55


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