中国西部人群IRF6基因SNPs与非综合征型唇腭裂相关性的研究  

Significant association between SNPs in IRF6 and non-syndromic cleft lip with or without cleft palate in West China

作　　者：黄永清[1] 马敏[1] 马坚[1] 李亚娣[1] 李迎春[2] 王珑[1] 高军 张雷 乔光伟[1] 石冰[4] 

机构地区：[1]宁夏医科大学附属医院口腔颌面外科,银川750004 [2]宁夏医科大学附属医院检验中心,银川750004 [3]宁夏银川市口腔医院口腔颌面外科 [4]四川大学华西口腔医学院口腔颌面外科

出　　处：《实用口腔医学杂志》2010年第2期227-231,共5页Journal of Practical Stomatology

基　　金：国家自然基金资助项目(编号:30660198);教育部春晖计划资助(编号:Z2008-1-75020)

摘　　要：目的:探讨干扰素调节因子6(IRF6)基因rs2013162和rs2235375位点单核苷酸多态性(SNPs)与非综合征型唇腭裂的相关性。方法:收集病例组非综合征型唇腭裂患儿332例,患者父亲243例,患者母亲289例,完整的核心家庭206个。对照组收集正常新生儿174例。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测IRF6基因这2个多态位点基因型,进行病例对照和传递不平衡(TDT)分析。结果:在中国西部人群中,与正常对照组比较,唇腭裂组rs2235375位点的基因型和等位基因的频率存在统计学差异(均P<0.01)。运用传递不平衡研究发现IRF6基因rs2235375位点的G等位基因在唇腭裂患者中存在过传递(P<0.01)。有5种单倍型组合显示有传递不平衡。结论:在中国西部人群中IRF6基因多态性与非综合征型唇腭裂的发生存在强的相关性。Objective： To study the association between the rs2013162 and rs2235375 polymorphisms in IRF6 and risk of NSCL/P in west Chinese population. Methods： The study group consisted of 332 NSCL/P patients, their parents （289 mothers, 243 fathers and 206 complete families） , and 174 controls. PCR-RFLP method was used to identify genotypes and both case-parent and case-contro] designs were can＇ied out on samples from west China. Results： There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at the rs2235375 （P 〈 0. 01, P 〈 0.01 respectively）. We found strong evidence of over-transmission of the G allele at rs2235375 in cleft case-parent trios（ P 〈 0.01 ）. Five specific haplotypes showed significant over-and under-transmission. Conclusion： These results suggest IRF6 variants play a role in NSCL/P in west Chinese populations.

关 键 词：非综合征型唇腭裂(NSCL/P) 干扰素调节因子6(IRF6) 单核苷酸多态性(SNP) 

分 类 号：R782.21[医药卫生—口腔医学] R782.22[医药卫生—临床医学]