Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate.

TitleFamily-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate.
Publication TypeJournal Article
Year of Publication2015
AuthorsFonseca, RF, de Carvalho, FM, Poletta, FA, Montaner, D, Dopazo, J, Mereb, JC, Moreira, MAM, Seuanez, HN, Vieira, AR, Castilla, EE, Orioli, IM
JournalEur J Oral Sci
Volume123
Issue5
Pagination381-384
Date Published2015 Oct
ISSN1600-0722
Abstract

The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X-linked syndromes [midline 1 (MID1), oral-facial-digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X-linked genes in the etiology of isolated CL±P in a South American population through a family-based genome-wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11-kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P-associated X-chromosome genomic segments.

DOI10.1111/eos.12212
Alternate JournalEur J Oral Sci
PubMed ID26331285