系统性红斑狼疮的遗传学研究进展

摘要/Abstract

中图分类号:

R593.2

史曼曼, 王语欣, 马毓华, 王朝晖. 系统性红斑狼疮的遗传学研究进展[J]. 内科理论与实践, 2022, 17(03): 267-272.

图/表2

表1

常见致SLE的单基因突变

通路/系统	基因	遗传模式	相关疾病
补体系统	C1Q	AR	SLE, AGS
	C1R/C1S	AD	SLE
	C2	AR	SLE
	C4	AR	SLE
	C3	AD	SLE, aHUS
凋亡通路	DNASE1	AD	SLE
	DNASE2	AR	SLE
	DNASE1L3	AR	SLE
	TREX1	AD/AR	SLE, AGS
	FAS/FASL	AD	SLE, ALPS
1型IFN信号通路	TMEM173	AD	SLE, SAVI, FCL
	ACP5	AD/AR	SLE, SPENCD
	SAMHD1	AD	SLE, AGS, FCL
其他	PRKCD	AR	SLE
	P2RY8	AD	SLE, APS

表1

免疫应答类型	通路/系统	基因
固有免疫	主要组织相容性复合物	HLA
	Ⅰ型IFN信号通路	IRF
		STAT4
		IFIH1
		SPP1
	免疫球蛋白的Fc受体	FCGR
	NF-κB通路	TNFAIP3
		TNIP1
		UBE2L3
		ITGAM
适应性免疫	B细胞受体信号	BANK1
		Src家族激酶：LYN、BLK、CSK
		PTPN22
		LRRK1
		IKZF1
	T细胞信号	TNFSF4

表2

参考文献44

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系统性红斑狼疮的遗传学研究进展

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