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. 2020 Dec 23;11:609271. doi: 10.3389/fendo.2020.609271

Table 3.

Biologically relevant genes that are significantly changed in the pancreata of AA+ vs. control (Microarray experiments).

Genes associated with T1D, T2D, metabolism, or obesity
Gene Description Significance Reference
CADM2 cell adhesion molecule 2 SNP associated with risk of obesity, regulates insulin sensitivity Speliotes et al. (30);
Dorajoo, 2012;
Rathjen et al. (31);
Yan, 2018
BCL2L15 BCL2-like 15 Gene located in a T1D-associated loci. T1Dbase.org
ERAP1 endoplasmic reticulum aminopeptidase 1 Gene located in a T1D-associated loci. Fung et al. (32)
ETV5 ets variant 5 SNP located near ETV5 gene linked to obesity. Thorleifsson et al. (33)
KANK1 KN motif and ankyrin repeat domains 1 Variants associated with fasting proinsulin & insulinogenic index Huyghe et al. (34)
SIM1 single-minded family bHLH transcription factor 1 Gene in an obesity-associated loci. Meyre et al. (35)
PLXNA4 plexin A4 Gene associated with T2D. Saxena et al. (36)
TRPM5 transient receptor potential cation channel, subfamily M, member 5 TRPM5 variants associated with pre-diabetic phenotypes.
Regulates insulin secretion and loss of expression leads to a pre-diabetic phenotype.
Brixel et al. (37);
Ketterer et al. (38)
ABCB9 ATP-binding cassette, sub-family B, member 9 Gene variant that confers susceptibility for T2D. Harder et al. (39)
Biologically relevant to pathogenesis of T1D – Genes upregulated in AA+
PGC Progastricsin (pepsinogen C) Expressed in human islets and is converted to the proteolytic enzyme pepsin in low pH. Hassan et al. (40)
CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 Involved in insulin homeostatsis and T cell proliferation, and serves as receptor for host-specific viruses and bacteria. Kuespert, 2006
CALB1 calbindin 1, 28kDa Overexpression reduces glucose-stimulated insulin secretion by modulating calcium influx. Lee et al. (41)
S100B S100 calcium binding protein B An inflammatory protein that serves as a ligand for the receptor of advanced glycation end products that are involved in the development of pathogenic T cells and apoptosis of beta cells. Chen et al. (42)
SMPD3 sphingomyelin phosphodiesterase 3,neutral membrane Can mediate cellular responses to IL-1b and TNFa. Rutkute et al. (43)
IL33 interleukin 33 May promote the development of inflammatory autoimmune T cells in experimental models of T1D. Milovanovic et al. (44)
ETV5 ets variant 5 Controls differentiation of TH17 cells. Pham et al. (45)
Biologically relevant to pathogenesis of T1D—Genes downregulate in AA+
CRH corticotropin releasing hormone expressed in beta cells. Plays a role in insulin secretion and beta cell proliferation. Kanno et al. (46);
Huising et al. (47)
PDK4 pyruvate dehydrogenase
kinase, isozyme 4
A key modulator of glucose homeostasis. Regulates expression of the transcription factor Ptf1a. Dateki et al. (48);
Zhang, 2014
ANGPTL4 angiopoietin-like 4 Involved in glucose homeostasis, lipid metabolism, and insulin sensitivity. Regulates islet morphology. Xu et al. (49);
Kim et al. (50)
SCIMP SLP adaptor and CSK interacting membrane protein Expressed on B cells and involved in signal transduction after MHCII stimulation. Draber et al. (51)
SEZ6L seizure related 6 homolog-like A substrate for BACE2, an inhibitor of beta cell proliferation. Stutzer et al. (52)
ICOSLG inducible T-cell
co-stimulator ligand
Provides co-stimulation through ICOS, and may be involved in the expansion of activated Tregs Martin-Orozco et al. (53)
PLD1 phospholipase D1, phosphatidylcholine-specific Phosphatidic acid formation on the graunule membrane by PLD1 is essential for glucose-stimulated insulin secretion Ma et al. (54)
TRPM5 transient receptor potential cation channel, subfamily M, member 5 TRPM5 variants associated with pre-diabetic phenotypes.
Regulates insulin secretion and loss of expression leads to a pre-diabetic phenotype.
Brixel et al. (37);
Ketterer et al. (38)
GNLY granulysin An antimicrobial peptide. Reduced GNLY expression has been observed in the PBMCs of T1D patients Jin et al. (55)
CRTAM cytotoxic and regulatory T cell molecule Involved in establishing late phase T cell polarity, and allows increased production of IFNγ and IL22. Yeh et al. (56)
CD180 CD180 molecule
(RP105)
An important modulator of Toll-like receptor 4 signaling that is involved in activating innate and adaptive immune responses. Divanovic et al. (57)
FCGR2B Fc fragment of IgG,
low affinity IIb, receptor
Impaired FCGR2B function leads to abberant B cell activation and the development of autoimmunity. Reduced Fcgr2b linked to autoimmune susceptibility in NOD mice. Jiang et al. (26);
Xiu et al. (27);
Anania et al. (20)
CLEC4D C-type lectin domain family 4, member D Plays a non-redundant role in protecting against anti-mycobacterial and fungal infection. Wilson et al. (58)
IL4R interleukin 4 receptor IL4 can prevent autoimmune diabetes in rodent models of T1D. Ko et al. (59)
RGS16 regulator of G-protein signaling 16 Key factor in G-protein mediated activation of lymphocytes. Plays a role in beta-cell development, proliferation, and insulin secretion. Villasenor et al. (60);
Vivot et al. (61)

The following references are included in Table 3 (26, 3137, 3946, 48, 5059, 61).