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Mult Scler. 2013 May;19(6):742-8. doi: 10.1177/1352458512461968. Epub 2012 Oct 4.
3
Genetics of Behçet's disease in Sardinia: two distinct extended HLA haplotypes harbour the B*51 allele in the normal population and in patients.撒丁岛贝切特病的遗传学:在正常人群和患者中,两个不同的扩展 HLA 单体型携带 B*51 等位基因。
Clin Exp Rheumatol. 2012 May-Jun;30(3 Suppl 72):S51-6. Epub 2012 Sep 28.
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[Therapy progression in surgery of inflammatory bowel diseases].[炎症性肠病手术中的治疗进展]
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6
Etiology of inflammatory bowel disease: a unified hypothesis.炎症性肠病的病因:一个统一的假说。
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Risk of ulcerative colitis-associated colorectal cancer in China: a multi-center retrospective study.中国溃疡性结肠炎相关性结直肠癌的风险:一项多中心回顾性研究。
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Host genetic susceptibility, dysbiosis, and viral triggers in inflammatory bowel disease.炎症性肠病中的宿主遗传易感性、菌群失调和病毒触发因素。
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中国汉族和维吾尔族溃疡性结肠炎患者 DRB1* 基因多态性的差异。

Difference in DRB1* gene polymorphisms between Han and Uyghur ulcerative colitis patients in China.

机构信息

Department of Gastroenterology, People's Hospital of Xinjiang Uyghur Autonomous Region, Urumqi 830001, Xinjiang Uyghur Autonomous Region, China.

出版信息

World J Gastroenterol. 2013 May 7;19(17):2709-13. doi: 10.3748/wjg.v19.i17.2709.

DOI:10.3748/wjg.v19.i17.2709
PMID:23674880
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3645391/
Abstract

AIM

To evaluate the association between HLA-DRB1 alleles and Han and Uyghur ulcerative colitis (UC) patients residing in the Xinjiang Uyghur Autonomous Region of China.

METHODS

In this study, 102 UC patients (53 Han including 22 men and 31 women, and 49 Uyghur patients including 25 men and 24 women; aged 48.07 ± 15.83 years) and 310 age- and sex-matched healthy controls were enrolled in the Department of Gastroenterology, Xinjiang People's Hospital of China from January 2010 to May 2011. UC was diagnosed based on the clinical, endoscopic and histological findings following Lennard-Jones criteria. Blood samples were collected and genomic DNA was extracted by routine laboratory methods, and both polymerase chain reaction and gene sequencing were used to identify HLA-DRB1 allele variants. The potential association between genetic variation and UC in Han and Uyghur patients was examined. There were no statistical differences in HLA-DRB1 allele frequencies in Han UC patients.

RESULTS

There was no significant difference in the sex ratio between the controls and UC patients (P = 0.740). In Han patients with UC (n = 53), HLA-DRB1 03, 13 allele frequencies were lower than in healthy controls (n = 161), but not statistically significant, and HLA-DRB1041114 allele frequencies were higher than in healthy controls, but without statistical significance. Differences between Uyghur UC patients and the control group were observed for HLA-DRB104 and HLA-DRB113, both showed a greater frequency in UC patients (10.21% vs 2.69%, P = 0.043; 14.29% vs 4.03%, P = 0.019). HLA-DRB114 also showed a greater frequency in UC patients (14.29% vs 2.69%, P = 0.006). The frequencies of DRB104, 1314 alleles were increased in Uyghur UC patients compared with normal controls. The frequency of DRB1 * 08 was decreased in Uyghur UC patients compared with normal controls. HLA-DRB1 alleles showed no association with UC in Han patients. There were no statistical differences in HLA-DRB1 allele frequencies in Han UC patients. The frequencies of DRB104, 1314 alleles were increased in Uyghur UC patients compared with normal controls. The frequency of DRB1*08 was decreased in Uyghur UC patients compared with normal controls. Polymorphism of the HLA-DRB1 gene may contribute to the clinical heterogeneity of UC between Han and Uyghur UC patients in China.

CONCLUSION

HLA-DRB1041314 and DRB108 may contribute to the clinical heterogeneity of UC between Han and Uyghur UC patients.

摘要

目的

评估 HLA-DRB1 等位基因与中国新疆维吾尔自治区汉族和维吾尔族溃疡性结肠炎(UC)患者之间的关联。

方法

本研究纳入了 2010 年 1 月至 2011 年 5 月在新疆维吾尔自治区人民医院消化内科就诊的 102 例 UC 患者(53 例汉族,包括 22 例男性和 31 例女性;49 例维吾尔族,包括 25 例男性和 24 例女性;年龄 48.07±15.83 岁)和 310 名年龄和性别匹配的健康对照者。根据 Lennard-Jones 标准,基于临床、内镜和组织学表现诊断 UC。采集血样,采用常规实验室方法提取基因组 DNA,采用聚合酶链反应和基因测序技术鉴定 HLA-DRB1 等位基因变异体。检测汉族和维吾尔族 UC 患者中遗传变异与 UC 的潜在关联。

结果

UC 患者和对照组的性别比例无统计学差异(P=0.740)。汉族 UC 患者(n=53)中 HLA-DRB103、13 等位基因频率低于健康对照组(n=161),但无统计学意义;HLA-DRB1041114 等位基因频率高于健康对照组,但无统计学意义。维吾尔族 UC 患者与对照组相比,HLA-DRB104 和 HLA-DRB113 存在差异,均显示 UC 患者的频率更高(10.21% vs. 2.69%,P=0.043;14.29% vs. 4.03%,P=0.019)。HLA-DRB114 在 UC 患者中的频率也更高(14.29% vs. 2.69%,P=0.006)。维吾尔族 UC 患者中 DRB104、1314 等位基因频率高于正常对照组,DRB108 频率低于正常对照组。汉族 UC 患者中 HLA-DRB1 等位基因频率无差异。汉族 UC 患者中 HLA-DRB1 等位基因频率无差异。维吾尔族 UC 患者中 DRB104、1314 等位基因频率高于正常对照组,DRB108 频率低于正常对照组。HLA-DRB1 基因多态性可能导致中国汉族和维吾尔族 UC 患者的临床异质性。

结论

HLA-DRB1041314 和 DRB108 可能导致中国汉族和维吾尔族 UC 患者的临床异质性。