Advances in human leukocyte antigen-B27 gene subtypes and clinical correlation with ankylosing spondylitis

doi:10.3877/cma.j.issn.1674-134X.2024.02.011

Abstract

Abstract:

Human leukocyte antigen (HLA)-B27 (HLA-B27) is closely related to the onset of ankylosing spondylitis (AS) and is an important genetic susceptibility factor of AS. At present, flow cytometry is commonly used in clinical diagnosis of AS to detect this indicator, but it is prone to false positive or false negative results, leading to misdiagnosis. With the progress of research and technology, it has been revealed that there are multiple subtypes of HLA-B27 gene. Up to now, there are a total of 379 subtypes. There is a different distribution of various HLA-B27 subtypes among diverse populations and regions all over the world. The most common subtype in China is HLA-B27: 05 and HLA-B27: 04. The correlation between various subtypes and the incidence of AS is different. The high-risk subtypes include HLA-B27: 02, 04, 05, while the protective subtypes include HLA-B27: 06, 09. The correlation between HLA-B27: 03, 07 and AS has not yet reached consensus. Meanwhile, different subtypes are characterized by the age of onset, clinical symptoms (such as lesions, enthesis, and uveitis), prognosis. Thus, illuminating the exact pathogenic mechanism and detecting subtypes of HLA-B27 are useful for screening, early diagnosis, and therapy of AS. This review explored the disadvantages within normal detection of HLA-B27 for diagnosing AS, and summarized the advances in HLA-B27 subtypes and the clinical significance in AS. Furthermore, this review expected clinical application of HLA-B27 subtypes in the future.

Key words: HLA-B27 antigen, Allele, Polymorphism, genetic, Spondylitis, ankylosing, Clinical Relevance

Chen Wang, Xiao Zhang, Weidong Xu. Advances in human leukocyte antigen-B27 gene subtypes and clinical correlation with ankylosing spondylitis[J]. Chinese Journal of Joint Surgery(Electronic Edition), 2024, 18(02): 231-238.

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References 57

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蛋白亚型	基因亚型	蛋白亚型	基因亚型	蛋白亚型	基因亚型
B27：01	B27：01	B27：08	B27：08	B27：91	B27：91
B27：02	B27：02：01：01	↓	↓	↓	↓
	↓	B27：11	B27：11	B27：95	B27：95
	B27：02：01：08	B27：12	B27：12：01：01	B27：96	B27：96：01
	B27：02：02		↓		B27：96：02
	↓		B27：12：01：03	B27：97	B27：97
	B27：02：06	B27：13	B27：13：01	↓	↓
B27：03	B27：03		B27：13：02	B27：143	B27：143
B27：04	B27：04：01	B27：14	B27：14	B27：144	B27：144：01
	↓	↓	↓		B27：144：02
	B27：04：06	B27：18	B27：18	B27：145	B27：145
B27：05	B27：05：02：01	B27：19	B27：19：01：01	↓	↓
	↓		B27：19：01：02	B27：177	B27：177
	B27：05：02：33	B27：20	B27：20	B27：178	B27：178：01
	B27：05：03	B27：21	B27：21：01		B27：178：02
	↓		B27：21：02	B27：179	B27：179
	B27：05：18：01	B27：23	B27：23	↓	↓
	B27：05：18：02	↓	↓	B27：203	B27：203
	B27：05：19	B27：49	B27：49	B27：204	B27：204：01：01
	↓	B27：50	B27：50：01		B27：204：01：02
	B27：05：57		B27：50：02	B27：205	B27：205
B27：06	B27：06：01：01	B27：51	B27：51	↓	↓
	B27：06：01：02	↓	↓	B27：256	B27：256
	B27：06：02	B27：89	B27：89
B27：07	B27：07：01	B27：90	B27：90：01
	↓		↓
	B27：07：06		B27：90：04

蛋白亚型	基因亚型	蛋白亚型	基因亚型	蛋白亚型	基因亚型
B27：01	B27：01	B27：08	B27：08	B27：91	B27：91
B27：02	B27：02：01：01	↓	↓	↓	↓
	↓	B27：11	B27：11	B27：95	B27：95
	B27：02：01：08	B27：12	B27：12：01：01	B27：96	B27：96：01
	B27：02：02		↓		B27：96：02
	↓		B27：12：01：03	B27：97	B27：97
	B27：02：06	B27：13	B27：13：01	↓	↓
B27：03	B27：03		B27：13：02	B27：143	B27：143
B27：04	B27：04：01	B27：14	B27：14	B27：144	B27：144：01
	↓	↓	↓		B27：144：02
	B27：04：06	B27：18	B27：18	B27：145	B27：145
B27：05	B27：05：02：01	B27：19	B27：19：01：01	↓	↓
	↓		B27：19：01：02	B27：177	B27：177
	B27：05：02：33	B27：20	B27：20	B27：178	B27：178：01
	B27：05：03	B27：21	B27：21：01		B27：178：02
	↓		B27：21：02	B27：179	B27：179
	B27：05：18：01	B27：23	B27：23	↓	↓
	B27：05：18：02	↓	↓	B27：203	B27：203
	B27：05：19	B27：49	B27：49	B27：204	B27：204：01：01
	↓	B27：50	B27：50：01		B27：204：01：02
	B27：05：57		B27：50：02	B27：205	B27：205
B27：06	B27：06：01：01	B27：51	B27：51	↓	↓
	B27：06：01：02	↓	↓	B27：256	B27：256
	B27：06：02	B27：89	B27：89
B27：07	B27：07：01	B27：90	B27：90：01
	↓		↓
	B27：07：06		B27：90：04

分类	亚型	作者	时间
高危亚型	HLA-B27：02、04、05	Khan^[3]	2017
		Fallahi等^[15]	2013
		Wu等^[16]	2020
		Vilaiyuk等^[17]	2022
		Lu等^[18]	2021
		Zhang等^[19]^]	2022
		卢志华等^[20]	2022
		李曼等^[21]	2021
		刘倩等^[22]	2020
		Liu等^[23]	2010
		Liu等^[24]	2010
保护亚型	HLA-B27：06、09	Diaz-Pena等^[25]	2012
		Lopez-Larrea等^[26]	1995
		Nasution等^[27]	1997
		Van Gaalen^[28]	2012
		Amato等^[29]	1995
有争议的亚型	HLA-B27：03、07	Lodhi等^[13]	2019
		Fallahi等^[15]	2013
		Robinson等^[37]	2014
		Yang等^[38]	2014
Varnavidou-Nicolaidou等^[39]	2004	徐娜等^[40]	2007
		Zhang等^[41]	2011
		杨春晴等^[42]	2010

分类	亚型	作者	时间
高危亚型	HLA-B27：02、04、05	Khan^[3]	2017
		Fallahi等^[15]	2013
		Wu等^[16]	2020
		Vilaiyuk等^[17]	2022
		Lu等^[18]	2021
		Zhang等^[19]^]	2022
		卢志华等^[20]	2022
		李曼等^[21]	2021
		刘倩等^[22]	2020
		Liu等^[23]	2010
		Liu等^[24]	2010
保护亚型	HLA-B27：06、09	Diaz-Pena等^[25]	2012
		Lopez-Larrea等^[26]	1995
		Nasution等^[27]	1997
		Van Gaalen^[28]	2012
		Amato等^[29]	1995
有争议的亚型	HLA-B27：03、07	Lodhi等^[13]	2019
		Fallahi等^[15]	2013
		Robinson等^[37]	2014
		Yang等^[38]	2014
Varnavidou-Nicolaidou等^[39]	2004	徐娜等^[40]	2007
		Zhang等^[41]	2011
		杨春晴等^[42]	2010

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