Machado Renato Assis, Martelli-Júnior Hercílio, de Almeida Reis Silvia Regina, Persuhn Darlene Camati, Coletta Ricardo D
Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil and Center for Rehabilitation of Craniofacial Anomalies, Dental School, University of José Rosario Vellano, Alfenas, Minas Gerais, Brazil.
Ann Hum Genet. 2018 Jul;82(4):227-231. doi: 10.1111/ahg.12242. Epub 2018 Feb 12.
Nonsyndromic oral clefts are common congenital birth defects that exhibit variable prevalence around the world, often influenced by population-dependent genetic predisposition. Few studies have been performed with nonsyndromic cleft palate only (NSCPO), limiting the knowledge of the genetic risk factors related to this type of oral cleft. Genetic variants in golgin subfamily B member 1 (GOLGB1), a gene that is essential for normal murine palatogenesis, were analyzed in this study to establish its potential association with NSCPO risk in the Brazilian population. Five tag-single nucleotide polymorphisms (SNPs) of GOLGB1 (rs1169, rs7153, rs9968051, rs9819530, and rs6794341), which capture the majority of alleles spanning within gene, were genotyped in a case-control study with 270 patients with NSCPO and 284 unrelated healthy controls. The samples were also genotyped for 40 biallelic polymorphic markers to characterize the genetic ancestry. After adjustment for co-variants, the GOLGB1 tag-SNPs and the haplotypes formed by those SNPs were not significantly associated with NSCPO in this Brazilian case-control cohort. Our results suggest that common polymorphisms of GOLGB1 are not associated NSCPO susceptibility in the Brazilian population.
非综合征性口腔裂隙是常见的先天性出生缺陷，在世界各地的患病率各不相同，这通常受人群依赖性遗传易感性的影响。仅有少数研究针对单纯性非综合征性腭裂（NSCPO）展开，这限制了我们对与这类口腔裂隙相关的遗传风险因素的了解。本研究分析了高尔基体蛋白B亚家族成员1（GOLGB1）基因中的遗传变异，该基因对正常小鼠腭部发育至关重要，旨在确定其与巴西人群中NSCPO风险的潜在关联。在一项病例对照研究中，对270例NSCPO患者和284名无亲缘关系的健康对照进行了GOLGB1基因的5个标签单核苷酸多态性（SNP）（rs1169、rs7153、rs9968051、rs9819530和rs6794341）的基因分型，这些SNP涵盖了该基因内的大部分等位基因。还对样本进行了40个双等位基因多态性标记的基因分型，以表征遗传血统。在对协变量进行校正后，在这个巴西病例对照队列中，GOLGB1标签SNP以及由这些SNP形成的单倍型与NSCPO无显著关联。我们的结果表明，在巴西人群中，GOLGB1的常见多态性与NSCPO易感性无关。
