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Association Between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population
Zhou, Qian1; Li, Mengjie1; Zhu, Wenli1; Guo, Jinzhen1; Wang, Yun1; Li, Yong1; Li, Shuqin2
关键词association study case-parent trio interferon regulatory factor 6 (IRF6) nonsyndromic cleft lip with or without cleft palate (NSCL +/- P) single nucleotide polymorphisms (SNPs)
刊名CLEFT PALATE-CRANIOFACIAL JOURNAL
2013-09-01
DOI10.1597/12-234
50期:5页:570-576
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dentistry, Oral Surgery & Medicine ; Surgery
研究领域[WOS]Dentistry, Oral Surgery & Medicine ; Surgery
关键词[WOS]SINGLE-NUCLEOTIDE POLYMORPHISMS ; POPLITEAL PTERYGIUM SYNDROMES ; LINKAGE DISEQUILIBRIUM ; IRF6 POLYMORPHISMS ; MUTATIONS ; WOUDE ; RISK ; VAN ; VARIANTS ; TFAP2A
英文摘要

Objective: To further confirm the association between two IRF6 single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in a Chinese population.

Participants: A total of 106 nonsyndromic cleft lip with or without cleft palate case trios and 129 control trios.

Intervention: Two IRF6 single nucleotide polymorphisms, rs2235371 and rs642961, were genotyped for all case and control families. Case-control analysis and family-based linkage analysis were both performed for the two single nucleotide polymorphisms.

Results: The genotype and allele frequencies of rs2235371 (odds ratio(AG+AA) (vs. GG), 0.581; 95% confidence interval, 0.345 to 0.976; P < .039) and rs642961 (odds ratio(AG+AA vs. GG), 5.389; 95% confidence interval, 2.936 to 9.893; P = 5e-08) were significantly higher in nonsyndromic cleft lip with or without cleft palate patients compared with controls. There was an obvious dosage effect of allele A at rs642961. The transmission of a major allele (G) of rs2235371 and a minor allele (A) of rs642961 was in disequilibrium (P < .05) in complete case-parent trios. The association between the two single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate was confirmed by the Family-Based Association Test for rs642961 (P = .008), but there was no significance for rs2235371 (P = 0.057). Haplotype analysis found that rs2235371 G/rs642961 A haplotype increased the risk of nonsyndromic cleft lip with or without cleft palate (P = 2.42e-07); whereas, rs2235371 A/rs642961 G haplotype reduced the risk of nonsyndromic cleft lip with or without cleft palate (P = 4.37e-05). No evidence of linkage disequilibrium was found between the two single nucleotide polymorphisms (D′ = -0.303, r(2) = -0.017).

Conclusion: Our results confirmed the involvement of the IRF6 variants rs642961 and rs2235371 in the etiology of nonsyndromic cleft lip with or without cleft palate in a Chinese population.

语种英语
WOS记录号WOS:000327536100013
项目编号30600676 ; NCET-07-0034
资助机构National Natural Science Foundation of China ; Program for New Century Excellent Talents of Education Ministry of China
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61352
专题北京大学公共卫生学院
北京大学临床肿瘤学院_医疗保险服务处
作者单位1.China Med Univ, Sheng Jing Hosp, Shenyang, Peoples R China
2.Peking Univ, Sch Publ Hlth, Dept Nutr & Food Hyg, Lab Mol Toxicol & Dev Mol Biol, Beijing 100191, Peoples R China
推荐引用方式
GB/T 7714
Zhou, Qian,Li, Mengjie,Zhu, Wenli,et al. Association Between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population[J]. CLEFT PALATE-CRANIOFACIAL JOURNAL,2013,50(5):570-576.
APA Zhou, Qian.,Li, Mengjie.,Zhu, Wenli.,Guo, Jinzhen.,Wang, Yun.,...&Li, Shuqin.(2013).Association Between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population.CLEFT PALATE-CRANIOFACIAL JOURNAL,50(5),570-576.
MLA Zhou, Qian,et al."Association Between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population".CLEFT PALATE-CRANIOFACIAL JOURNAL 50.5(2013):570-576.
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