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Study of IRF 6 and 8q24 region in non‐syndromic oral clefts in the Brazilian population
Author(s) -
Souza LT,
Kowalski TW,
Ferrari J,
Monlléo IL,
Ribeiro EM,
Souza J,
FettConte AC,
Araujo TK,
GildaSilvaLopes VL,
RibeirodosSantos ÂKC,
Santos SEB,
Félix TM
Publication year - 2016
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/odi.12432
Subject(s) - haplotype , allele , proband , genetics , population , indel , single nucleotide polymorphism , medicine , genotype , biology , gene , mutation , environmental health
Objectives We investigated the association between non‐syndromic oral cleft and variants in IRF 6 (rs2235371 and rs642961) and 8q24 region (rs987525) according to the ancestry contribution of the Brazilian population. Subjects and methods Subjects with oral cleft ( CL , CLP , or CP ) and their parents were selected from different geographic regions of Brazil. Polymorphisms were genotyped using a TaqMan assay and genomic ancestry was estimated using a panel of 48 INDEL polymorphisms. Results A total of 259 probands were analyzed. A TDT detected overtransmission of the rs2235371 G allele ( P = 0.0008) in the total sample. A significant association of this allele was also observed in CLP ( P = 0.0343) and CLP + CL ( P = 0.0027). IRF 6 haplotype analysis showed that the G/A haplotype increased the risk for cleft in children (single dose: P = 0.0038, double dose: P = 0.0022) and in mothers (single dose: P = 0.0016). The rs987525 (8q24) also exhibited an association between the A allele and the CLP + CL group ( P = 0.0462). These results were confirmed in the probands with European ancestry. Conclusions The 8q24 region plays a role in CL /P and the IRF 6 G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population.