PV |
HLA-E
|
Major Histocompatibility Complex, Class I, E |
6p22.1 |
genotype 01:03/01:03 |
susc |
Not due to LD with HLA DRB1 or DQB1 |
USA |
Bhanusali et at., 2012 |
PV |
HLA-G
|
Major Histocompatibility Complex, Class I, G |
6p22.1 |
rs371194629 (14bp del) |
susc |
|
Israel Ashkenazi Jews |
Gazit et al.,2004 |
EPF |
HSPA1L
|
Heat Shock Protein Family A (Hsp70) Member 1 Like |
6p21.33 |
rs2227956 C>T (Thr493Met) allele T |
susc |
|
Tunisia |
Toumi et at., 2015Toumi A, Abida O, Ben-Ayed M, Masmoudi A, Turki H and Masmoudi H (2015) Is there any relationship between polymorphism of heat shock protein 70 genes and Pemphigus foliaceus? Immunol Lett 164:94-99.
|
EPF |
HSPA1A
|
Heat Shock Protein Family A (Hsp70) Member 1A |
6p21.33 |
rs1043618G > C (a 5' UTR SNP) genotype C/C |
susc |
|
Tunisia |
Toumi et at., 2015Toumi A, Abida O, Ben-Ayed M, Masmoudi A, Turki H and Masmoudi H (2015) Is there any relationship between polymorphism of heat shock protein 70 genes and Pemphigus foliaceus? Immunol Lett 164:94-99.
|
EPF |
HSPA1B
|
Heat Shock Protein Family A (Hsp70) Member IB |
6p21.33 |
rs1061581 G > A (a synonymous variant) genotype G/G |
susc |
|
Tunisia |
Toumi et at., 2015Toumi A, Abida O, Ben-Ayed M, Masmoudi A, Turki H and Masmoudi H (2015) Is there any relationship between polymorphism of heat shock protein 70 genes and Pemphigus foliaceus? Immunol Lett 164:94-99.
|
PV |
TAP1, TAP2
|
Transporters 1 and 2, ATP Binding Cassette Subfamily B Member |
6p21.32 |
polymorphic amino acid residue frequencies |
susc |
|
Israeli Jews |
Slomov et al., 2005Slomov E, Loewenthal R, Korostishevsky M, Goldberg I, Brenner S and Gazit E (2005) Pemphigus vulgaris is associated with the transporter associated with antigen processing (TAP) system. Hum Immunol 66:1213-1222.
|
PV + PF |
TAP1, TAP2
|
|
|
|
none |
|
Japan |
Niizeki et al., 2004Niizeki H, Kumagai S, Kanagawa S, Amagai M, Yamashina Y, Asada H, Nishikawa T and Miyagawa S (2004) Exclusion of the TAP1 and TAP2 genes within the HLA class II region as candidate susceptibility genes to pemphigus in the Japanese population. J Dermatol Sci 36:122-124.
|
FS |
MHC2TA (CIITA)
|
Class II Major Histocompatibility Complex Transactivator |
16p13.13 |
rs3087456 G/G plus G/A genotypes |
susc |
Strong additive interaction between MHC2TA rs3087456 and HLA-DRB1 genotypes. No association with rs4774 (Gly500Ala) |
Brazil general population |
Piovezan and Petzl-Erler, 2013Piovezan BZ and Petzl-Erler ML (2013) Both qualitative and quantitative genetic variation of MHC class II molecules may influence susceptibility to autoimmune diseases: the case of endemic pemphigus foliaceus. Hum Immunol 74:1134-1140.
|
PF, EPF. (FS) |
DSG1
|
Desmoglein 1 |
18q12.1 |
allele C (especially in genotype C/C) of the synonymous SNP rs12967407 (809T > C) |
susc |
ns for FS (p=0.079). Interaction between DSG1 and HLA was observed by Martel et at (2002Martel P, Gilbert D, Busson M, Loiseau P, Lepage V, Drouot L, Delaporte E, Prost C, Joly P, Charron D et al. (2002) Epistasis between DSG1 and HLA class II genes in pemphigus foliaceus. Genes Immun 3:205-210.). Haplotypes of rs8091003, rs8091117, rs16961689, rs61730306, rs34302455 not associated |
France, Tunisia, Brazil |
Martel et at., 2001Martel P, Gilbert D, Drouot L, Prost C, Raux G, Delaporte E, Joly P and Tron F (2001) A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease. Genes Immun 2:41-43.; Ayed et at., 2002Ayed MB, Martel P, Zitouni M, Gilbert D, Turki H, Mokni M, Osman AB, Kamoun MR, Zahaf A, Makni S et al. (2002) Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism. Genes Immun Sep 3:378-9.; Petzl-Erler and Malheiros, 2005Petzl-Erler ML and Malheiros D (2005) Pemphigus foliaceus and desmoglein 1 gene polymorphism: is there any relationship? J Autoimmun 25:121-125.
|
PV |
DSG3
|
Desmoglein 3 |
18q12.1 |
Two related haplotypes were associated |
susc |
Association with the haplotype possibly due to an (additional) regulatory SNP (Capon et al., 2009Capon F, Boulding H, Quaranta M, Mortimer NJ, Setterfield JF, Black MM, Trembath RC and Harman KE (2009) Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris. Br J Dermatol 161:1403-1405.) |
British and Indian populations |
Capon et al., 2006Capon F, Bharkhada J, Cochrane NE, Mortimer NJ, Setterfield JF, Reynaert S, Black MM, Vaughan RW, Trembath RC and Harman KE (2006) Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris. Br J Dermatol 154:67-71.
|
FS |
KIR
|
Killer Cell Immunoglobulin Like Receptor gene complex |
19q13.42 |
More than three activating KIR and higher ratios activating/inhibitory KIR. Presence of both the activating KIR3DS1 gene and its HLA-Bw4 ligand |
prot |
|
Brazil general population |
Augusto et al., 2012Augusto DG, Lobo-Alves SC, Melo MF, Pereira NF and Petzl-Erler ML (2012) Activating KIR and HLA Bw4 ligands are associated to decreased susceptibility to pemphigus foliaceus, an autoimmune blistering skin disease. PLoS One 7:e39991.
|
FS |
KIR3DL2
|
Killer Cell Immunoglobulin Like Receptor KIR3DL2 |
19q13.42 |
Allele KIR3DL2*001; rs3745902 allele T (376Met) |
susc; prot |
The risk was higher for KIR3DL2*001/001 homozygotes than for 001/x heterozygotes; the risk was higher for presence of KIR3DL2*001 together with the ligands HLA-A3 or HLA-A11 than for presence of 001 in the absence of these KIR3DL2 ligands. SNP rs3745902 T (376Met) associated with reduced risk |
Brazil general population |
Augusto et al., 2015Augusto DG, O'Connor GM, Lobo-Alves SC, Bass S, Martin MP, Carrington M, McVicar DW and Petzl-Erler ML (2015) Pemphigus is associated with KIR3DL2 expression levels and provides evidence that KIR3DL2 may bind HLA-A3 and A11 in vivo. Eur J Immunol 45:2052-2060.
|
FS |
LAIR1
|
Leukocyte Associated Immunoglobulin Like Receptor 1 |
19q13.42 |
rs56802430 allele G; rs11084332 allele C |
susc; prot |
Alleles of four SNPs mark increased mRNA expression: rs3826753 G, rs74463408 C, rs3745444 T, rs56802430 G. However, no link between LAIR1 expression and the disease was observed |
Brazil general population |
Camargo et at., 2016Camargo CM, Augusto DG and Petzl-Erler ML (2016) Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus. Hum Genet 135:233-244.
|
FS |
LAIR2
|
Leukocyte Associated Immunoglobulin Like Receptor 2 |
19q13.42 |
rs2287828 allele T; haplotype G-T-C-A of rs2042287, rs2287828, rs2277974, rs114834145 |
susc |
The G-T-C-A haplotype is associated with both FS and higher LAIR2 mRNA levels |
Brazil general population |
Camargo et al., 2016Camargo CM, Augusto DG and Petzl-Erler ML (2016) Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus. Hum Genet 135:233-244.
|
FS |
KLRG1
|
Killer Cell Lectin Like Receptor G1 |
12p13.31 |
rs1805672 G allele (A/G genotype) |
susc |
rs1805672*G allele a miR-584-5p binding site in the 3' UTR of KLRG1 |
Brazil general population |
Cipolla et al., 2016Cipolla GA, Park JK, Oliveira LA, Lobo-Alves SC, Almeida RC, Farias TD, Lemos DS, Malheiros D, Lavker RM and Petzl-Erler ML (2016) A 3'UTR polymorphism marks differential KLRG1 mRNA levels through disruption of a miR-584-5p binding site and associates with pemphigus foliaceus susceptibility. Biochim Biophys Acta 1859:1306-1313.
|
FS |
IL6
|
Interleukin 6 |
7p15.3 |
rs1800795 (-174G>C) C/C genotype |
prot |
rs1800795 is in the gene promoter |
Brazil general population |
Pereira et al., 2004Pereira NF, Hansen JA, Lin MT, Roxo VM, Braun K and Petzl-Erler ML (2004) Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants. Cytokine 28:233-241.
|
FS, EPF |
IL4
|
Interleukin 4 |
5q31.1 |
rs2243250 (also known as −590C > T or −589C > T) genotype T/T |
susc |
rs2243250 is in the gene promoter |
Brazil, Tunisia |
Pereira et al., 2004Pereira NF, Hansen JA, Lin MT, Roxo VM, Braun K and Petzl-Erler ML (2004) Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants. Cytokine 28:233-241., Toumi et al., 2013Toumi A, Abida O, Ben-Ayed M, Masmoudi A, Turki H and Masmoudi H (2013) Cytokine gene polymorphisms in Tunisian endemic pemphigus foliaceus: a possible role of IL-4 variants. Hum Immunol 74:658-665.
|
EPF |
IL4 + IL4R
|
Interleukin 4, Interleukin 4 Receptor |
5q31.1, 16p12.1 |
T;A-C-A combination for rs2243250 (of IL4), and rs4787948-rs3024622-rs3024530 (of IL4R) |
susc |
|
Tunisia |
Toumi et at., 2013Toumi A, Abida O, Ben-Ayed M, Masmoudi A, Turki H and Masmoudi H (2013) Cytokine gene polymorphisms in Tunisian endemic pemphigus foliaceus: a possible role of IL-4 variants. Hum Immunol 74:658-665.
|
EPF |
IL23R
|
Interleukin 23 Receptor |
1p31.3 |
rs11209026 G/G genotype |
susc |
|
Tunisia |
Ben Jmaa et al., 2018Ben Jmaa M, Abida O, Fakhfakh R, Bahloul E, Sellami K, Gaddour L, Elloumi N, Ben Ayed M, Masmoudi A, Dhouib M et al. (2018) Involvement of the IL23/Th17 pathway in the pathogenesis of Tunisian pemphigus foliaceus. Mediators Inflamm 2018:8206983.
|
EPF |
IL17A
|
Interleukin 17A |
6p12.2 |
rs3748067 C/C genotype |
susc |
|
Tunisia |
Ben Jmaa et al., 2018Ben Jmaa M, Abida O, Fakhfakh R, Bahloul E, Sellami K, Gaddour L, Elloumi N, Ben Ayed M, Masmoudi A, Dhouib M et al. (2018) Involvement of the IL23/Th17 pathway in the pathogenesis of Tunisian pemphigus foliaceus. Mediators Inflamm 2018:8206983.
|
EPF |
IL17F
|
Interleukin 17F |
6p12.2 |
rs763780 C allele |
susc |
|
Tunisia |
Ben Jmaa et al., 2018Ben Jmaa M, Abida O, Fakhfakh R, Bahloul E, Sellami K, Gaddour L, Elloumi N, Ben Ayed M, Masmoudi A, Dhouib M et al. (2018) Involvement of the IL23/Th17 pathway in the pathogenesis of Tunisian pemphigus foliaceus. Mediators Inflamm 2018:8206983.
|
EPF |
TNF
|
Tumor Necrosis Factor |
6p21.33 |
rs1800629 (-308G>A) A allele (in both the A/A and A/G genotypes) |
susc |
|
Tunisia |
Ben Jmaa et al., 2018Ben Jmaa M, Abida O, Fakhfakh R, Bahloul E, Sellami K, Gaddour L, Elloumi N, Ben Ayed M, Masmoudi A, Dhouib M et al. (2018) Involvement of the IL23/Th17 pathway in the pathogenesis of Tunisian pemphigus foliaceus. Mediators Inflamm 2018:8206983.
|
FS |
CD40LG
|
CD40 Ligand |
Xq26.3 |
rs3092945 (-726T > C) allele T |
susc |
No association was seen for the 3'UTR(CA) STR rs56074249 |
Brazil general population |
Malheiros and Petzl-Erler, 2009Malheiros D and Petzl-Erler ML (2009) Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. Genes Immun 10:547-558.
|
FS |
CD40
|
CD40 Molecule |
20q13.12 |
rs1883832 (-1C>T) allele T |
prot |
rs1883832 is in the Kozak sequence that includes the translation initiation codon (AUG) and is important for ribosome binding to the mRNA |
Brazil general population |
Malheiros and Petzl-Erler, 2009Malheiros D and Petzl-Erler ML (2009) Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. Genes Immun 10:547-558.
|
FS |
TNFSF13B
(BAFF; BLYS)
|
TNF Superfamily Member 13b |
13q33.3 |
rs9514828 SNP (-871C> T) allele T |
prot |
rs9514828 is in the binding site for transcription factor MZF1 and may change its affinity, resulting in altered levels of BAFF |
Brazil general population |
Malheiros and Petzl-Erler, 2009Malheiros D and Petzl-Erler ML (2009) Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. Genes Immun 10:547-558.
|
FS |
CTLA4
|
Cytotoxic T-Lymphocyte Associated Protein 4 |
2q33.2 |
rs5742909 (-318C>T) allele T |
prot |
8 SNPs and 3 STR were analyzed, ranging from the promoter region of the CD28 gene to the intergenic region between CTLA4 and ICOS. rs5742909*T marks increased expression of CTLA4, which could lower the risk of Ads |
Brazil general population |
Dalla-Costa et al., 2010Dalla-Costa R, Pincerati MR, Beltrame MH, Malheiros D and Petzl-Erler ML (2010) Polymorphisms in the 2q33 and 3q21 chromosome regions including T-cell coreceptor and ligand genes may influence susceptibility to pemphigus foliaceus. Hum Immunol 71:809-817.
|
FS |
CTLA4
|
Cytotoxic T-Lymphocyte Associated Protein 4 |
|
rs733618 (-1722TC) allele C |
susc |
rs733618*C might lead to altered alternative splicing and decreased expression and function of membrane-bound CTLA4 |
Brazil general population |
Dalla-Costa et at., 2010Dalla-Costa R, Pincerati MR, Beltrame MH, Malheiros D and Petzl-Erler ML (2010) Polymorphisms in the 2q33 and 3q21 chromosome regions including T-cell coreceptor and ligand genes may influence susceptibility to pemphigus foliaceus. Hum Immunol 71:809-817.
|
FS |
CD86
|
CD86 Molecule |
3q13.33 |
rs1129055 (1057G> A, Ala304Thr) allele A |
prot |
rs1129055*A may alter the signal transduction pathways controlled by CD86 on antigen presenting cells. Association was significant in the sample of predominantly African ancestry, but not in Euro-Brazilians |
Brazil general population |
Dalla-Costa et al., 2010Dalla-Costa R, Pincerati MR, Beltrame MH, Malheiros D and Petzl-Erler ML (2010) Polymorphisms in the 2q33 and 3q21 chromosome regions including T-cell coreceptor and ligand genes may influence susceptibility to pemphigus foliaceus. Hum Immunol 71:809-817.
|
FS |
PDCD1 (PD-1)
|
Programmed Cell Death 1 |
2q37.3 |
rs10204525 (PD1.6) allele A |
susc |
rs10204525 may influence binding of microRNA and transcription factors. Association was reported for the sample of European but not of predominantly African ancestry |
Brazil general population |
Braun-Prado and Petzl-Erler, 2007Braun-Prado K and Petzl-Erler ML (2007) Programmed cell death 1 gene (PDCD1) polymorphism and pemphigus foliaceus (fogo selvagem) disease susceptibility. Genet Mol Biol 30:314-321.
|
PV + PF |
ICOS
|
Inducible T Cell Costimulator |
2q33.2 |
rs10932029 (IVS1+173T> C) allele C |
susc |
|
Poland |
Narbutt et al., 2010Narbutt J, Lesiak A, Klich I, Torzecka JD, Sysa-Jedrzejowska A and Mlynarski W (2010) ICOS gene polymorphism may be associated with pemphigus. J Cutan Med Surg 14:291-297.
|
FS |
CD59
|
CD59 Molecule (CD59 Blood Group) |
11p13 |
rs1047581 and other five SNPs. Haplotype G-G-C-C-A-A |
susc |
6 SNPs that might affect alternative splicing or mRNA stability were analyzed. Haplotype G-G-C-C-A-A also marks increased CD59 expression |
Brazil general population |
Salviano-Silva et al., 2017Salviano-Silva A, Petzl-Erler ML and Boldt ABW (2017) CD59 polymorphisms are associated with gene expression and different sexual susceptibility to pemphigus foliaceus. Auto-immunity 50:377-385.
|
FS |
C3
|
Complement component C3 |
19p13.3 |
rs4807895 allele T |
susc |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695. analyzed 992 SNPs of 44 complement system genes. Polymorphisms of 25% of them were associated with PF. |
FS |
C5AR1
|
Complement C5a Receptor 1 |
19q13.32 |
rs10404456 allele C |
susc |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
C8A
|
Complement C8 Alpha Chain |
1p32.2 |
rs11206934 allele C |
susc |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
C9
|
Complement component C9 |
5p13.1 |
rs700218 allele T |
prot |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
C9
|
|
|
rs187875 allele T |
susc |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
CFH
|
Complement Factor H |
1q31.3 |
rs34388368 genotype T/T |
susc |
rs34388368*T is associated with higher CFH mRNA levels in the hypodermis |
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
CR1
|
Complement C3b/C4b Receptor 1 (Knops Blood Group) |
1q32.2 |
haplotype with rs6656401 |
susc |
|
Brazil general population |
Oliveira et al., 2019Oliveira LC, Kretzschmar GC, Santos ACM, Camargo CM, Nisihara RM, Farias TDJ, Franke A, Wittig M, Schmidt E, Busch H et al. (2019) Complement receptor 1 (CR1, CD35) polymorphisms and soluble CR1: A proposed anti-inflammatory role to quench the fire of “fogo selvagem” pemphigus foliaceus. Front Immunol 10:2585.
|
FS |
CR2
|
Complement C3d Receptor 2 |
1q32.2 |
rs2182911 allele C |
prot |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
ITGAM (CR3)
|
Integrin Subunit Alpha M / Complement Component 3 Receptor 3 Subunit |
16p11.2 |
rs12928810 allele A |
prot |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
ITGAX (CR4)
|
Integrin Subunit Alpha X / Complement Component 3 Receptor 4 Subunit |
16p11.2 |
rs11574637 allele C |
prot |
|
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
MASP1
|
Mannan Binding Lectin Serine Peptidase 1 |
3q27.3 |
rs13094773 genotype G/G; rs850309G/G;rs72549154 (Arg576Met) allele T |
prot |
higher MASP-3 levels may lower the PF risk |
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
FS |
MASP1
|
|
|
rs3864098 allele C; rs698104 allele T |
susc |
higher MASP-1 levels may contribute to PF |
Brazil general population |
Bumiller-Bini et al., 2018Bumiller-Bini V, Cipolla GA, Almeida RC, Petzl-Erler ML, Augusto DG and Boldt ABW (2018) Sparking fire under the skin? answers from the association of complement genes with pemphigus foliaceus. Front Immunol 9:695.
|
PV + PF |
FCGR2B
|
Low Affinity Receptor IIb for Fc Fragment of IgG |
1q23.3 |
rs3219018 (-386G>C) allele C |
prot |
rs3219018 is shared by the promoters of FCGR2C and FCGR2B and leads to higher expression levels of FcgRIIb |
Germany |
Recke et al., 2015Recke A, Vidarsson G, Ludwig RJ, Freitag M, Möller S, Vonthein R, Schellenberger J, Haase O, Görg S, Nebel A et al. (2015) Allelic and copy-number variations of FcγRs affect granulocyte function and susceptibility for autoimmune blistering diseases. J Autoimmun 61:36-44.
|
PV + PF |
FCGR2C
|
Low Affinity Receptor IIc for Fc Fragment of IgG |
1q23.3 |
rs183547105 (an ORF/Stop polymorphism) ORF allele |
susc |
FCGR2C expression occur only in the presence of the ORF allele. FcgRIIb expression was increased by the presence of FCGR2C ORF. The inhibitory FcgRIIb is involved in tolerance of B lymphocytes, which may be counterbalanced by FcgRIIc expression |
Germany |
Recke et al., 2015Recke A, Vidarsson G, Ludwig RJ, Freitag M, Möller S, Vonthein R, Schellenberger J, Haase O, Görg S, Nebel A et al. (2015) Allelic and copy-number variations of FcγRs affect granulocyte function and susceptibility for autoimmune blistering diseases. J Autoimmun 61:36-44.
|
EPF + PF |
FOXP3
|
Forkhead Box P3 |
Xp11.23 |
G-A-15-C-Chaplotype of rs3761547-rs3761548-(GT)n-rs3761549-rs2294021 |
susc |
the four SNPs mark three different LD blocks |
Tunisia |
Ben Jmaa et al., 2017Ben Jmaa M, Abida O, Bahloul E, Toumi A, Khlif S, Fakhfakh R, Elloumi N, Sellami K, Masmoudi A, Turki H et al. (2017) Role of FOXP3 gene polymorphism in the susceptibility to Tunisian endemic Pemphigus Foliaceus. Immunol Lett 184:105-111.
|
PV |
ST18
|
ST18 C2H2C-Type Zinc Finger Transcription Factor |
8q11.23 |
rs2304365 allele A; rs17315309 allele G |
susc |
both SNPs present LD in Jews. Possibly rs17315309*G, which drives ST18 upregulation is the causal polymorphism. Association was not seen in Germans (Sarig et al., 2012Sarig O, Bercovici S, Zoller L, Goldberg I, Indelman M, Nahum S, Israeli S, Sagiv N, Martinez de Morentin H, Katz O et al. (2012) Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. J Invest Dermatol 132:1798-1805.) and in Chinese (Yue et al., 2014Yue Z, Fu X, Chen M, Wang Z, Wang C, Yang B, Zhou G, Liu H and Zhang F (2014) Lack of association between the single nucleotide polymorphism of ST18 and pemphigus in Chinese population. J Dermatol 41:353-354.) |
Israel (Jews); Egypt; Iran |
Sarig et al., 2012Sarig O, Bercovici S, Zoller L, Goldberg I, Indelman M, Nahum S, Israeli S, Sagiv N, Martinez de Morentin H, Katz O et al. (2012) Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. J Invest Dermatol 132:1798-1805.; Vodo et al., 2016Vodo D, Sarig O, Geller S, Ben-Asher E, Olender T, Bochner R, Goldberg I, Nosgorodsky J, Alkelai A, Tatarskyy P et al. (2016) Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene. PLoS Genet 12:e1006008.; Etesami et al., 2018Etesami I, Seirafi H, Ghandi N, Salmani H, Arabpour M, Nasrollahzadeh A, Teimourpour A, Daneshpazhooh M and Keramatipour M (2018) The association between ST18 gene polymorphism and severe pemphigus disease among Iranian population. Exp Dermatol 27:1395-1398.
|
FS |
AL110292.1
|
lncRNA AL110292.1 |
14q12 |
rs7144332 allele T |
susc |
|
|
Lobo-Alves et al., 2019bLobo-Alves SC, Augusto DG, Magalhães WCS, Tarazona-Santos E, Lima-Costa MF, Barreto ML, Horta BL, Almeida RC and Petzl-Erler ML (2019b) Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus. Br J Dermatol 181:324-331.. A total of 2 080 SNPs located in long ncRNAs (lncRNAs) genes were analyzed. |
FS |
LINC01176
|
Long Intergenic Non-Protein Coding RNA 1176 |
7p14.3 |
rs6942557 allele C |
susc |
|
|
Lobo-Alves et al., 2019bLobo-Alves SC, Augusto DG, Magalhães WCS, Tarazona-Santos E, Lima-Costa MF, Barreto ML, Horta BL, Almeida RC and Petzl-Erler ML (2019b) Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus. Br J Dermatol 181:324-331.
|
FS |
LINC01119
|
Long Intergenic Non-Protein Coding RNA 1119 |
2p21 |
rs17774133 allele T |
susc |
|
|
Lobo-Alves et al., 2019bLobo-Alves SC, Augusto DG, Magalhães WCS, Tarazona-Santos E, Lima-Costa MF, Barreto ML, Horta BL, Almeida RC and Petzl-Erler ML (2019b) Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus. Br J Dermatol 181:324-331.
|
FS |
lnc-PREX1-7:1
|
lncRNA lnc-PREX1-7:1 |
20q13 |
rs6095016 allele A |
prot |
|
|
Lobo-Alves et al., 2019bLobo-Alves SC, Augusto DG, Magalhães WCS, Tarazona-Santos E, Lima-Costa MF, Barreto ML, Horta BL, Almeida RC and Petzl-Erler ML (2019b) Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus. Br J Dermatol 181:324-331.
|
FS |
AC009121.1
|
lncRNA AC009121.1 |
16p13.13 |
rs7195536 allele G |
prot |
|
|
Lobo-Alves et al., 2019bLobo-Alves SC, Augusto DG, Magalhães WCS, Tarazona-Santos E, Lima-Costa MF, Barreto ML, Horta BL, Almeida RC and Petzl-Erler ML (2019b) Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus. Br J Dermatol 181:324-331.
|
FS |
AC133785.1
|
lncRNA AC133785.1 |
2q21.1 |
rs1542604 allele T |
prot |
|
|
Lobo-Alves et al., 2019bLobo-Alves SC, Augusto DG, Magalhães WCS, Tarazona-Santos E, Lima-Costa MF, Barreto ML, Horta BL, Almeida RC and Petzl-Erler ML (2019b) Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus. Br J Dermatol 181:324-331.
|