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学科主题: 公共卫生
题名:
Association Between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population
作者: 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
发表日期: 2013-09-01
DOI: 10.1597/12-234
卷: 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
所属项目编号: 30600676 ; NCET-07-0034
项目资助者: National Natural Science Foundation of China ; Program for New Century Excellent Talents of Education Ministry of China
WOS记录号: WOS:000327536100013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61352
Appears in Collections:北京大学公共卫生学院_期刊论文

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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

Recommended Citation:
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.
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