The landscape of human genes involved in the immune response to parasitic worms

Fumagalli, Matteo; Pozzoli, Uberto; Cagliani, Rachele; Comi, Giacomo P; Bresolin, Nereo; Clerici, Mario; Sironi, Manuela

doi:10.1186/1471-2148-10-264

BMC Ecology and Evolution

Table 2 Top 20 SNP (or SNP clusters) associated with helminth diversity.

From: The landscape of human genes involved in the immune response to parasitic worms

SNP	Candidate gene	Distance (bp)^a	Annotation	τ	Description	Reference
rs6989916	CSMD1	14833	intergenic	0.702	CSMD1 acts as a regulator of the complement system	[77]
rs11614925; rs2082529	NAP1L1, PHLDA1	35490; 1923	intron; intergenic	0.700; 0.700	PHLDA1 participates in regulating T-cell receptor/CD3-dependent induction of CD95/Fas	[78]
rs1369977; rs1369976	PDHA2	45648; 44682	intergenic	0.696; 0.687	Pyruvate dehydrogenase (lipoamide) alpha 2
rs4684083; rs9681213; rs1516320	CHL1	49940; 175000; 162760	intergenic	0.690; 0.676; 0.675	Cell adhesion molecule with homology to L1CAM
rs10014145	SLC39A8	genic	intron	0.685	SLC39A8 encodes a zinc transporter which is up-regulated by different cytokines in lung epithelia and monocytes	[79, 80]
rs4682429	CD200R1L	12582	intergenic	0.684	Engagement of CD200RL1 (aka CD200R2) results in the development of dendritic cells that preferentially induce Treg Cells	[33]
rs7130880	PRMT3	14431	intergenic	0.682	PRMT3 encodes a protein arginine methyltransferase expressed in T and B cells; arginine methylation is important for T cell activation and is induced by CD28 engagements	[81]
rs504508	KATNAL1	111767	intergenic	0.682	Katanin p60 subunit A-like 1
rs12371626	GRIP1	genic	intron	0.680	GRIP1 acts with Beta-catenin to enhance the activity of LEF1 (lymphoid enhancer-binding factor 1)	[82]
rs1441443	PDZRN3	252500	intergenic	0.678	PDZ domain containing ring finger 3
rs236233	IRAK1BP1	452153	intergenic	0.677	IRAKBP1 is required for TNF-alpha activation of NF-kB dependent-gene expression	[83]
rs3807250	DPP6	genic	intron	0.677	Dipeptidyl-peptidase 6; a susceptibility gene for amyotrophic lateral sclerosis	[84]
rs11702528	BTG3	52819	intergenic	0.676	BTG3 is a transcriptional target of p53 that inhibits E2F1
rs985122	AJ606331	508	intergenic	0.674	Putative non-coding RNA
rs4692241	STIM2	529000	intergenic, eQTL	0.673	STIM2 promotes store-operated Ca2⁺ entry into T cells; STIM1 and STIM2 proteins are required for the development and function of regulatory T cells	[34]
rs10270302	GIMAP7	genic	intron	0.672	GIMAP7 encodes a GTPase of the immunity-associated protein family; it is expressed at very high levels in CD4⁺ and CD8⁺ T cells, and in NK cells	SymAtlas
rs7258075	RYR1	genic	intron	0.672	Activation of RYR1 causes a rapid increase in the expression of MHCII molecules on the surface of dendritic cells	[57]
rs424138	DPYSL2	genic	intron	0.671	Dihydropyrimidinase-like 2
rs9952350	ZFP161	genic	intron, eQTL	0.671	ZFP161 encodes a transcriptional repressor expressed at maximum levels in CD4⁺ T cells	[85], SymAtlas
rs1143683	ITGAM	genic	missense (Ala858Val)	0.671	ITGAM combines with ITGB2 to form a leukocyte-specific integrin. ITGAM is the target of an immunomodulatory molecue secreted by Ancylostoma caninum	[41]

SNP are ranked according to τ values.
a distance of the associated SNP from the candidate gene. In all cases the candidate gene was the known gene closest to the SNP.

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ISSN: 2730-7182

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