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胡齐斯坦省多发性硬化症患者中HLA - DR2相关单倍型(HLA - DRB5*01 - DRB1*1501 - DQB1*0602)的关联

Association of HLA-DR2-Related Haplotype (HLA-DRB5*01-DRB1*1501-DQB1*0602) in Patients with Multiple Sclerosis in Khuzestan Province.

作者信息

Delfan Nooshin, Galehdari Hamid, Ghanbari Mardasi Farideh, Zabihi Rezvan, Latifi Pakdehi Tahereh, Seifi Tahereh, Majdinasab Nastaran

机构信息

Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz Iran.

Department of Neurology, Jondishapour University of Medical Sciences, Musculoskeletal Rehabilitation Research Center, Ahvaz, Iran.

出版信息

Iran J Child Neurol. 2021 Summer;15(3):35-46. doi: 10.22037/ijcn.v14i4.18795.

Abstract

OBJECTIVE

Multiple sclerosis (MS) is a partially heritable autoimmune disease. is the largest identified genetic risk factor for MS. The largest identified genetic risk factor is haplotype from the MHC class II HLA-DR2, which increases the disease risk. The distribution in MS patients has been confirmed, but contradictory outcomes have been found. Moreover, the effect on ethnicity and gender is unclear. There are no data regarding the association with MS in Khuzestan Province, Iran. This study aimed to investigate the association of with MS regarding both sex and ethnicity in this province.

MATERIALS & METHODS: A total of 399 individuals were recruited. HLA typing was conducted using the polymerase chain reaction amplification with sequence-specific primers technology. The association with MS was analyzed, and also its probable association with gender, ethnicity, the expanded disability status scale (EDSS), and MS clinical course was examined using the Chi-square test.

RESULTS

as the most common haplotype was found in both patient and control groups. In contrast, the frequency was very low in the groups. It was observed that haplotypes had no association with MS susceptibility. Most of the haplotypes showed no association with ethnicity, sex, EDSS, and MS course except for the haplotype that was positively associated with EDSS steps 5 to 10 (p=0.014) and non-RRMS (p=0.023).

CONCLUSION

There was no association between and MS susceptibility. However, the higher frequency may play a role in MS development. Also, HLA-DR2 did not increase significantly concerning clinical course, ethnicity, sex, and EDSS. This study further supports the importance of replication studies as susceptible loci that might differ in various ethnicities. Therefore, it is concluded that the association between and MS is more allelic than haplotypic in Khuzestan.

摘要

目的

多发性硬化症(MS)是一种部分可遗传的自身免疫性疾病。是已确定的MS最大遗传风险因素。已确定的最大遗传风险因素是来自MHC II类HLA - DR2的单倍型,其会增加疾病风险。在MS患者中的分布已得到证实,但结果相互矛盾。此外,其对种族和性别的影响尚不清楚。在伊朗胡齐斯坦省,尚无关于与MS关联的数据。本研究旨在调查该省中与MS在性别和种族方面的关联。

材料与方法

共招募了399名个体。使用序列特异性引物聚合酶链反应扩增技术进行HLA分型。分析了与MS的关联,并使用卡方检验检查了其与性别、种族、扩展残疾状态量表(EDSS)和MS临床病程的可能关联。

结果

作为最常见的单倍型在患者组和对照组中均被发现。相比之下,该单倍型在两组中的频率非常低。观察到单倍型与MS易感性无关联。除了与EDSS 5至10级(p = 0.014)和非复发缓解型多发性硬化症(p = 0.023)呈正相关的单倍型外,大多数单倍型与种族、性别、EDSS和MS病程均无关联。

结论

与MS易感性之间无关联。然而,较高的频率可能在MS发展中起作用。此外,HLA - DR2在临床病程、种族、性别和EDSS方面未显著增加。本研究进一步支持了复制研究的重要性,因为易感基因座在不同种族中可能不同。因此,得出结论,在胡齐斯坦,与MS之间的关联更多是等位基因而非单倍型的。

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本文引用的文献

2
Multiple sclerosis genetics.
Lancet Neurol. 2014 Jul;13(7):700-9. doi: 10.1016/S1474-4422(14)70041-9. Epub 2014 May 19.
3
The immune pathogenesis of multiple sclerosis.
J Neuroimmune Pharmacol. 2013 Sep;8(4):857-66. doi: 10.1007/s11481-013-9467-3. Epub 2013 May 10.
5
HLA associations with multiple sclerosis in Greece.
J Neurol Sci. 2011 Sep 15;308(1-2):28-31. doi: 10.1016/j.jns.2011.06.037. Epub 2011 Jul 8.
6
Refining the association of MHC with multiple sclerosis in African Americans.
Hum Mol Genet. 2010 Aug 1;19(15):3080-8. doi: 10.1093/hmg/ddq197. Epub 2010 May 12.
8
Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility.
Proc Natl Acad Sci U S A. 2009 May 5;106(18):7542-7. doi: 10.1073/pnas.0812664106. Epub 2009 Apr 20.
9
Dissection of the multiple sclerosis associated DR2 haplotype.
J Autoimmun. 2008 Nov;31(3):201-7. doi: 10.1016/j.jaut.2008.04.016. Epub 2008 Jun 2.
10
Functional epistasis on a common MHC haplotype associated with multiple sclerosis.
Nature. 2006 Oct 5;443(7111):574-7. doi: 10.1038/nature05133. Epub 2006 Sep 27.

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