Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
Department of Ophthalmology, The First Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
J Oral Pathol Med. 2018 Sep;47(8):796-801. doi: 10.1111/jop.12758. Epub 2018 Jul 11.
The role of underlying genetic factors in the pathogenesis of nonsyndromic orofacial clefts (NSOC) remains poorly understood. Although genomewide association studies (GWASs) of NSOC have successfully identified a large number of novel genetic risk loci, association results of replication studies are inconsistent across different populations.
Six single nucleotide polymorphisms (SNPs) (rs7922405 at 10q26.3, rs73039426 at 19q13.11, rs7552 at 2p24.2, rs1788160 at 8q22.2, rs9381107 at 6p24.3, and rs17095681 at 10q25.3) were analyzed for an association with NSOC in 1062 participants of Chinese descent (596 patients and 466 controls). We applied the multifactor dimensionality reduction (MDR) method to detect potential gene-gene (G × G) interactions in the six SNPs.
The genotype or allele frequencies of SNPs rs7922405, rs73039426, and rs7552 showed significant differences between the controls and patients with NSOC, whereas no association was shown between three SNPs (rs1788160, rs17095681, and rs9381107) and NSOC. MDR analysis did not reveal significant G × G interactions for susceptibility to NSOC.
We confirmed that three genes (rs7922405 of MGMT, rs73039426 of RHPN2, and rs7552 of FAM49A) may contribute to NSOC in Chinese populations. MGMT and RHPN2 are associated with NSOC, which is herein demonstrated for the first time.
非综合征性口面裂（NSOC）发病机制中潜在遗传因素的作用仍知之甚少。尽管 NSOC 的全基因组关联研究（GWAS）已成功鉴定出大量新的遗传风险位点，但不同人群的复制研究的关联结果并不一致。
分析了 6 个单核苷酸多态性（SNP）（rs7922405 位于 10q26.3、rs73039426 位于 19q13.11、rs7552 位于 2p24.2、rs1788160 位于 8q22.2、rs9381107 位于 6p24.3 和 rs17095681 位于 10q25.3）与 1062 名华裔 NSOC 患者（596 例患者和 466 例对照）的相关性。我们应用多因子降维（MDR）方法来检测这 6 个 SNP 之间潜在的基因-基因（G×G）相互作用。
SNP rs7922405、rs73039426 和 rs7552 的基因型或等位基因频率在对照组和 NSOC 患者之间存在显著差异，而三个 SNP（rs1788160、rs17095681 和 rs9381107）与 NSOC 之间没有关联。MDR 分析未显示 NSOC 易感性的显著 G×G 相互作用。
我们证实了三个基因（MGMT 的 rs7922405、RHPN2 的 rs73039426 和 FAM49A 的 rs7552）可能与中国人群的 NSOC 有关。MGMT 和 RHPN2 与 NSOC 有关，这是首次在此得到证实。
