| 屈爽 苗运博 吴丹 孙茂 刘青 杨安钢 吴元明 王立锋.口腔扁平苔藓患者的CIITA基因单倍型分析[J].,2015,15(25):4813-4818 |
| 口腔扁平苔藓患者的CIITA基因单倍型分析 |
| Haplotype Analysis of CIITA Gene in Oral Lichen Planus |
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| DOI： |
| 中文关键词: OLP CIITA SNP Haploview SHEsis 单倍型分析 |
| 英文关键词: OLP CIITA SNP Haploview SHEsis Haplotype analysis |
| 基金项目:国家自然科学基金项目(30901359) |
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| 中文摘要: |
| 目的：分析CIITA 基因中单核苷酸多态性（Single Nucleotide Polymorphism, SNP）的单倍型与口腔扁平苔藓（Oral Lichen
Planus, OLP）之间的关系，并探讨计算单倍型的新方法。方法：在得到42 名患者与86 名对照的CIITA 基因中15 个SNP位点的信
息后，通过Haploview和SHEsis软件以及本研究组设计的频数计数法进行单倍型分析。组间比较使用字2检验，并以P=0.05 作为
统计检验标准。结果：在本研究群体中，CIITA 基因上的15 个SNP 位点能够形成两个单体域（haploblock），其中由位点
rs6498124，rs11647384 和rs4774 所组成的单倍型GAC 在三种单倍型分析方法中均显示出显著的统计学差异（Haploview: Chi2=6.
127，P=0.013；SHEsis: Chi2= 6.469 P=0.011；频数计数法：Chi2=5.460，P=0.019）。结论：在由CIITA 基因的SNP位点rs6498124，
rs11647384，rs4774 组成的单体域中，单倍型GAC对OLP的患病具有潜在的保护性。频数计数法显示，rs4774位点本身的保护
性及其与同一单体域内另外两个位点之间的完全连锁不平衡关系是单体型GAC 显示出保护性的主要依据。提示单倍型对疾病
易感性的解释在于其中的特定SNP 位点等位基因型，及其该位点与其它相关位点间的连锁不平衡关系。 |
| 英文摘要: |
| Objective:This study analyses the relationship between OLP and haplotype composed of SNPs in CIITA, and develops
a new method of haplotype analysis.Methods:With the SNPs information of a case group of 42 and a control group of 86, we use
haploview and SHEsis to analyze haplotype. When compare group data. Chi-square test is used which takes p=0.05 as the statistical
significance threshold.Results:In the cohort, 15 SNPs of the CIITA gene formed 2 haploblocks, in which rs6498124, rs11647384, rs4774
compose a haplotype GAC. This haplotype showed statistical significance in each analyzing method（Haploview: Chi2=6.127, P=0.013
SHEsis: Chi2= 6.469, P=0.011 frequency-counting: Chi2=5.460, P=0.019）Conclusion:In a haploblock composed of rs6498124,
rs11647384and rs4774 in CIITA, the haplotype GAC showed potential protection for OLP. The analysis fromfrequency-counting showed
that the protection of rs4774 itself and its linkage disequilibrium relationship with other sites in the same haploblock contribute to the
protection of haplotype GAC. And indicate that haplotype explanation for disease susceptivity may rely on the allelotype of certain
significant SNP site and its linkage disequilibriumrelationship with other related sites. |
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