The axis inhibition protein 2 polymorphisms and non-syndromic orofacial clefts susceptibility in a Chinese Han population
The axis inhibition protein 2 polymorphisms and non-syndromic orofacial clefts susceptibility in a Chinese Han population
复制标题
中国汉族人群轴抑制蛋白2多态性与非综合征性口颌面裂易感性
DOI：
10.1111/jop.12162
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发表时间：
2014-08-01
影响因子：
3.3
通讯作者：
Pan, Yongchu
中科院分区：
文献类型：
--
作者：
Han, Yue;Zhou, Lian;Pan, Yongchu
背景技术背景：轴抑制蛋白2（axis inhibition protein 2，AXIN 2）是Wnt通路中β-连环蛋白降解的重要调节因子，在颅面形态发生中起着关键作用。本研究的目的是探讨中国汉族人群中AXIN 2基因多态性与非综合征性口面裂（NSOC）风险之间的潜在关系。AXIN 2的四种多态性（rs2240307，rs11867417，rs2240308，和rs7591）对599例NSOC患者和602例健康人进行病例对照研究。结果：单核苷酸多态性（SNPs）与NSOC的风险之间存在弱相关性。进一步分层分析发现，rs 2240307基因型频率在单纯腭裂组和对照组之间存在显著差异（P = 0.048），GG基因型与腭裂易感性有显著相关性（OR = 3.22，95% CI = 1.13-9.18）。GA/AA基因型与GG纯合子相比，也有相似的效应（OR = 0.30，95% CI = 0.11-0.84）。两对SNPs间的LD分析结果显示，rs 11867417和rs7591两个SNPs处于LD区组（r（2）> 0.8）。结论：rs 2240307位点与中国汉族人群CPO易感性相关，有助于提高对NSOC病因的认识。
BACKGROUND: The axis inhibition protein 2 (AXIN2) is an important regulator of beta-catenin degradation in the Wnt pathway, which plays a key role in craniofacial morphogenesis. The goal of this study was to investigate the potential relationship between AXIN2 polymorphisms and the risks of non-syndromic orofacial clefts (NSOC) in a Chinese Han population.METHODS: Four polymorphisms of AXIN2 (rs2240307, rs11867417, rs2240308, and rs7591) were selected to perform a case-control study with 599 NSOC cases and 602 healthy individuals from a Chinese Han population. The single nucleotide polymorphisms (SNPs) were genotyped on basis of double ligation and multiplex fluorescence PCR.RESULTS: Weak associations were found between these four SNPs and the risk of NSOC. Further stratified analysis showed that the overall genotype frequencies of rs2240307 were different between the cleft palate only (CPO) group and the control group (P = 0.048), and GG genotype markedly contributed to the susceptibility to CPO (OR = 3.22, 95% CI = 1.13-9.18). The similar effect was also observed on GA/AA genotype compared with GG homozygote (OR = 0.30, 95% CI = 0.11-0.84). The results of LD analysis between each pair of SNPs revealed that two SNPs (rs11867417 and rs7591) were in a LD block (r(2) > 0.8). But no statistically significant was found between cases and controls from haplotype analysis in these two loci.CONCLUSIONS: The borderline results gave us a hint that rs2240307 contributed to the susceptibility to CPO in a Chinese Han population, which was conductive to improving our awareness of the causes of NSOC.