Shi Jinna, Jiao Xiaohui, Song Tao, Zhang Bing, Qin Chunlin, Cao Fenglin
Department of Periodontology, School of Stomatology, the First Affiliated Hospital, Harbin Medical University, Harbin, China.
Eur J Oral Sci. 2010 Aug;118(4):430-3. doi: 10.1111/j.1600-0722.2010.00743.x.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is the most common craniofacial birth defect. This complex genetic disorder results from interactions between genes and environmental factors. Numerous genes have been reported in studies demonstrating association between the cleft lip and palate phenotypes and the alleles at single-nucleotide polymorphisms (SNPs) within specific genes. Recently, the cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2) has been revealed to be a novel candidate gene for NSCLP. The SNPs rs1546124, rs4783099 and rs16974880 in CRISPLD2 were highly significant in Caucasian and Hispanic multiplex families but showed no association in Colombian and Irish populations. In the current study, we examined these three SNPs in a northern Chinese population and found an association between these polymorphisms and NSCLP in both single-marker and haplotype analyses. Our data further strengthen the conclusion that altered CRISPLD2 is associated with NSCLP susceptibility.
非综合征性唇裂伴或不伴腭裂（NSCLP）是最常见的颅面出生缺陷。这种复杂的遗传疾病是由基因与环境因素相互作用导致的。在研究中已报道了众多基因，这些研究表明唇腭裂表型与特定基因内单核苷酸多态性（SNP）的等位基因之间存在关联。最近，富含半胱氨酸的分泌蛋白LCCL结构域包含2（CRISPLD2）已被揭示为NSCLP的一个新候选基因。CRISPLD2中的SNP rs1546124、rs4783099和rs16974880在白种人和西班牙裔多重家庭中具有高度显著性，但在哥伦比亚和爱尔兰人群中未显示出关联。在本研究中，我们在中国北方人群中检测了这三个SNP，并且在单标记和单倍型分析中均发现这些多态性与NSCLP之间存在关联。我们的数据进一步强化了以下结论：CRISPLD2改变与NSCLP易感性相关。
