| Autor: |
Souza, LT, Kowalski, TW, Ferrari, J, Monlléo, IL, Ribeiro, EM, Souza, J, Fett‐Conte, AC, Araujo, TK, Gil‐da‐Silva‐Lopes, VL, Ribeiro‐dos‐Santos, ÂKC, Santos, SEB, Félix, TM |
| Předmět: |
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| Zdroj: |
Oral Diseases; Apr2016, Vol. 22 Issue 3, p241-245, 5p, 2 Charts, 1 Graph |
| Abstrakt: |
Objectives We investigated the association between non-syndromic oral cleft and variants in IRF6 (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). IRF6 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 IRF6 G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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