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中国汉族人群中HLA单倍型与斑秃的关联

Association of HLA haplotype with alopecia areata in Chinese Hans.

作者信息

Xiao F-L, Ye D-Q, Yang S, Zhou F-S, Zhou S-M, Zhu Y-G, Liang Y-H, Ren Y-Q, Zhang X-J

机构信息

Insititute of Dermatology, Anhui Medical University, Department of Dermatology, No. 1 Hospital, Hefei, China.

出版信息

J Eur Acad Dermatol Venereol. 2006 Nov;20(10):1207-13. doi: 10.1111/j.1468-3083.2006.01750.x.

DOI:10.1111/j.1468-3083.2006.01750.x
PMID:17062033
Abstract

BACKGROUND

Some studies have shown discrepancies in human leucocyte antigen (HLA) associated with alopecia areata (AA) between different ethnic populations.

OBJECTIVE

To investigate whether HLA-I, -DQA1 and -DQB1 alleles and the HLA haplotype are associated with AA, and the correlation between the HLA haplotype profile, age of onset and severity of AA in Chinese Hans.

METHODS

The polymerase chain reaction-sequence specific primer (PCR-SSP) method was used to analyse the frequencies of HLA class I, -DQA1 and -DQB1 alleles in 192 patients with AA and 252 controls in Chinese Hans. The linkage disequilibrium was calculated using the 2 x 2 table.

RESULTS

The 24 two-locus haplotypes [including A02-B18, A02-B27, A02-B52, A02-Cw0704, A02-DQA10104, A02-DQB10604, A02-DQB10606, B18-Cw0704, B18-DQA10104, B18-DQA10302, B18-DQB10606, B27-Cw0704, B27-DQA10104, B27-DQA10302, B52-Cw0704, B52-DQA10104, B52-DQA10302, B52-DQB10606, Cw0704-DQA10104, Cw0704-DQA10302, Cw0704-DQB10606, DQA10104-DQB10604, DQA10104-DQB10606, DQA10302-DQB10606 (P<0.05)] were associated with AA, while eight extended haplotypes (A02-B18-DQA10104, A02-B27-DQA10104, A02-B52-DQA10104, A02-B52-DQA10302, A02-B52-DQB10606, B52-Cw0704-DQA10104, B52-Cw0704-DQA10302, A02-B52-DQA10302-DQB10606) were found to be related to AA in Chinese Hans. Through stratified analysis, we found that the extended haplotype B52-Cw0704-DQA1*0302 was related to early onset of AA, and no haplotype was only associated with severe AA.

CONCLUSION

This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA. The haplotype B52-Cw0704-DQA1*0302 was identified to be related to early onset of AA. Our results provide some information for future research on predisposing genes in HLA regions in Chinese Hans.

摘要

背景

一些研究表明,不同种族人群中与斑秃(AA)相关的人类白细胞抗原(HLA)存在差异。

目的

研究HLA - I、- DQA1和- DQB1等位基因及HLA单倍型是否与AA相关,以及中国汉族人群中HLA单倍型谱、发病年龄与AA严重程度之间的相关性。

方法

采用聚合酶链反应-序列特异性引物(PCR - SSP)方法分析192例中国汉族AA患者和252例对照者中HLA - I类、- DQA1和- DQB1等位基因的频率。使用2×2表计算连锁不平衡。

结果

24种两位点单倍型[包括A02 - B18、A02 - B27、A02 - B52、A02 - Cw0704、A02 - DQA10104、A02 - DQB10604、A02 - DQB10606、B18 - Cw0704、B18 - DQA10104、B18 - DQA10302、B18 - DQB10606、B27 - Cw0704、B27 - DQA10104、B27 - DQA10302、B52 - Cw0704、B52 - DQA10104、B52 - DQA10302、B52 - DQB10606、Cw0704 - DQA10104、Cw0704 - DQA10302、Cw0704 - DQB10606、DQA10104 - DQB10604、DQA10104 - DQB10606、DQA10302 - DQB10606(P < 0.05)]与AA相关,而8种扩展单倍型(A02 - B18 - DQA10104、A02 - B27 - DQA10104、A02 - B52 - DQA10104、A02 - B52 - DQA10302、A02 - B52 - DQB10606、B52 - Cw0704 - DQA10104、B52 - Cw0704 - DQA10302、A02 - B52 - DQA10302 - DQB10606)在中国汉族人群中与AA相关。通过分层分析,我们发现扩展单倍型B52 - Cw0704 - DQA1*0302与AA的早发相关,且没有单倍型仅与严重AA相关。

结论

这是第一份详细报告,阐明了与AA相关的HLA单倍型,并展示了中国汉族AA患者中显著的HLA单倍型。已确定单倍型B52 - Cw0704 - DQA1*0302与AA的早发相关。我们的结果为未来中国汉族人群HLA区域易感基因的研究提供了一些信息。

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