Details

Autor(en) / Beteiligte

• Messetti, Ana Camila
• Machado, Renato Assis
• Oliveira, Carine Ervolino
• Martelli‐Júnior, Hercílio
• Almeida Reis, Silvia Regina
• Moreira, Helenara Salvati Bertolossi
• Persuhn, Darlene Camati
• Wu, Tao
• Coletta, Ricardo D.

Titel

Brazilian multicenter study of association between polymorphisms in CRISPLD2 and JARID2 and non‐syndromic oral clefts

Ist Teil von

• Journal of oral pathology & medicine, 2017-03, Vol.46 (3), p.232-239

Ort / Verlag

Denmark: Wiley Subscription Services, Inc

Erscheinungsjahr

2017

Quelle

Wiley Blackwell Single Titles

Beschreibungen/Notizen

• Background Variants in the cysteine‐rich secretory protein LCCL domain containing 2 gene (CRISPLD2) and in the jumonji, AT‐rich interaction domain 2 gene (JARID2) were previously shown to influence non‐syndromic oral cleft susceptibility. Herein, we performed a case−control study to examine the potential association of single‐nucleotide polymorphisms (SNPs) in CRISPLD2 and JARID2 with non‐syndromic cleft lip and/or palate (NSCL/P) in the Brazilian population. Given the ethnicity‐dependent genetic predisposition to NSCL/P, we performed a structured analysis taking into account the genomic ancestry variation of each individual. Methods Four SNPs in CRISPLD2 (rs1546124, rs8061351, rs2326398, and rs4783099) and four in JARID2 (rs915344, rs2299043, rs2237138, and rs2076056), that were previously reported to be associated with NSCL/P, were genotyped in 785 Brazilian patients with NSCL/P (549 with cleft lip with or without cleft palate‐NSCL ± P, and 236 with cleft palate only‐NSCPO) and 693 unaffected Brazilian controls. Genomic ancestry was assessed with a set of 40 biallelic short insertion/deletion variants previously validated as ancestry informative markers of the Brazilian population. Results After adjustment of ancestry variations, allelic analysis revealed marginal associations between the CRISPLD2 rs4783099 T allele and increased risk for NSCPO (OR: 1.31, 95% CI: 1.05–1.62, P = 0.01) and between JARID2 rs2237138 and decreased NSCL ± P risk (OR: 0.80, 95% CI: 0.67–0.97, P = 0.02). Haplotype analysis indicated a lack of association between JARID2 haplotypes and non‐syndromic oral cleft risk. Conclusions Our results suggest that CRISPLD2 rs4783099 may represent a risk factor for NSCPO while JARID2 rs2237138 shows a protective effect against NSCL ± P in the Brazilian population.