No Evidence of Association Between 8q24 and Susceptibility to Nonsyndromic Cleft Lip With or Without Palate in Japanese Population
No Evidence of Association Between 8q24 and Susceptibility to Nonsyndromic Cleft Lip With or Without Palate in Japanese Population
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DOI：
10.1597/10-242
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发表时间：
2012-11-01
期刊：
影响因子：
--
通讯作者：
Yoshiura, Koh-ichiro
中科院分区：
文献类型：
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作者：
Hikida, Masanori;Tsuda, Masayoshi;Yoshiura, Koh-ichiro
目的：最近的全基因组关联研究在欧洲血统人群中发现了8q24.21、10q25.3、13q31.1、15q13.3、17q22和18q22上的非综合征性唇裂伴或不伴腭裂（NSCL +/- P）易感位点。本研究的目的是通过DNA样本确定8q24.21是否为日本nsl +/- P患者发生的易感位点。方法：167例日本NSCL +/- P患者（45例非腭裂唇裂患者和122例合并腭裂患者）和190例日本正常对照组的DNA。我们对8q24.21位点上的13个单核苷酸多态性（snp）进行了关联研究。通过基因组DNA直接测序对每个SNP进行基因分型。此外，利用选择的snp构建单倍型块。结果：所选的13个snp在357个个体中成功分型。获得的p值并不低到足以表明单倍型与该人群中nsl +/- p的发展之间存在显著关联。结论：我们的研究结果表明，8q24.21位点与日本患者对nsl +/- P的易感性无关，并进一步证明种族是决定易感性位点的重要因素，尽管使用的样本数量有限。需要进一步的研究来确定日本人群中参与NSCL +/- P发展的区域。
Objective: Recent genome-wide association studies identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL +/- P) on 8q24.21, 10q25.3, 13q31.1, 15q13.3, 17q22, and 18q22 in populations of European origin. The purpose of this study was to determine, using DNA samples, whether 8q24.21 was a susceptibility locus for the development of NSCL +/- P in Japanese patients.Methods: We used DNA from 167 Japanese NSCL +/- P patients (45 cleft lip without cleft palate and 122 cleft lip with cleft palate patients) and 190 Japanese unaffected control individuals. We performed an association study using 13 single nucleotide polymorphisms (SNPs) selected on the 8q24.21 locus. Genotyping of each SNP was carried out by direct sequencing of genomic DNA. Additionally, a haplotype block was constructed using the selected SNPs.Results: The 13 selected SNPs were successfully genotyped in 357 individuals. The p values obtained were not low enough to indicate a significant association between the haplotypes and the development of NSCL +/- P in this population.Conclusions: Our results suggest that the 8q24.21 locus is not associated with susceptibility to NSCL +/- P in Japanese patients and provide further evidence that ethnicity is a strong factor in determining susceptibility loci, albeit using a limited number of samples. Further studies are needed to identify regions involved in the development of NSCL +/- P in the Japanese population.