No evidence for a role of CRISPLD2 in non-syndromic cleft lip with or without cleft palate in an Italian population.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a malformation with variable phenotypes, resulting from a mixture of genetic and environmental factors. Some studies have supported a role for the 16q24 region and its candidate gene, CRISPLD2, in clefting. A replication study is necessary to confirm these findings. The aim of the present study was to test, by genetic linkage and association analyses, whether the candidate gene, CRISPLD2, represents a risk factor for NSCLP. The analysis of 39 multigenerational families provided formal exclusion of a linkage between NSCLP and the CRISPLD2 locus under different genetic models and non-parametric analyses. The family-based study of 239 unrelated probands and their parents revealed no association between any particular allele or haplotype and NSCLP. Therefore, the present investigation did not support the hypothesis of the involvement of CRISPLD2 in NSCLP malformation, at least with regard to the Italian population.
Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, CARISBO Foundation, University of Bologna, Bologna, Italy.
Ambra
A
Girardi
Marcella
M
Martinelli
Francesco
F
Carinci
Paolo G
PG
Morselli
Elisabetta
E
Caramelli
Luca
L
Scapoli
D000328:Adult; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D002885:Chromosomes, Human, Pair 16; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide; D018709:Statistics, Nonparametric
C525599:CRISPLD2 protein, human; D015815:Cell Adhesion Molecules; D050835:Interferon Regulatory Factors