Table 1.
Atopic dermatitis associated candidate genes and their chromosomal location and genetic variation in different population.
| Gene Symbol | Gene name | Chromosomal location | Genetic variation | Population | References |
|---|---|---|---|---|---|
| FLG | Filaggrin | 1q21 | R501X-2282del4 | Caucasian Northern-American European and Asian ancestry, Chinese German |
(Palmer et al. 2006) (Brown and McLean 2012; Hu et al. 2009; Brown et al. 2008; Ekelund et al. 2008; Barker et al. 2007; Morar et al. 2007; Weidinger et al. 2005) |
| S2377X (FLG2) Q294X (TCHHL1) R501X, 2282del4, E2554X, R2447X, 1249insG, R826X, 2767insT, E2422X P478S |
Irish Japanese African Americans Chinese |
(Ekelund et al. 2008) (Marenholz et al. 2006) (Brown and McLean 2012) (Osawa et al. 2010) (Margolis et al. 2014; Winge et al. 2011) (Polcari et al. 2014) (Kim et al. 2009) |
|||
|
| |||||
| SPINK5 (LEKTI) | Serine Protease Inhibitor Kazal-Type 5 and Lymphoepithelial Kazal-Type-Related Inhibitor | 5q31 | 1258G > A IV12-26C > T IVS12-10A > G IVS14 + 19 G > A IVS 13-50 G > A 1103A > G 1156 G > A 1188T > C 1258G > A |
Japanese | (Kato et al. 2003; Nishio et al. 2003) |
|
| |||||
| MHC (HLA) | The major histocompatibility complex or human leukocyte antigen | 6p21 | A24 allele of HLA | Korean | (Lee et al. 2001) |
|
TAP1, Val333Ile Gly637Asp |
Tunisians | (Ismail et al. 1997) | |||
|
TAP2, Ile379Val Thr565Ala Ala665Thr Gln687Stop |
Korean | (Braff et al. 2005) | |||
|
| |||||
| Innate Immune genes | |||||
|
| |||||
| CARD4 (NOD1) | Caspase recruitment domain-containing protein 4 | 7p15-p14 | rs2736726 (A > G) rs2075817 (A > G) rs2975632 (C > T) rs3030207 (A > G) rs2075818 (C > G) rs2235099 (C > T) rs2075821 (A > G) rs2075822 (C > T) rs2907749 (A > G) rs2907718 (C > T) rs5743368 (A > G) | German | (Weidinger et al. 2005) |
|
| |||||
| CARD15 (NOD2) | Caspase recruitment domain-containing protein 15 | 16q21 | 2104C > T 2722 G > C 802T > C 534 G > C rs1077861 (intron 10A > T) 2863 G > A 4278A > G 60A > G |
German | (Weidinger et al. 2005; Kabesch et al. 2003) |
|
| |||||
| CD14 | Monocyte differentiation antigen | 5q22-q32 | 159C > T 1145 G > A, 1359 G > T and −550C > T |
Chinese German Singaporean Chinese |
(Lange et al. 2005) (Sengler et al. 2003) (Liang et al. 2006) |
|
| |||||
| (MBL2) | Mannose-binding lectin | 10q11.2-q21 | Gly54 Asp | Japanese | (Hashimoto et al. 2005) |
|
| |||||
| TLR2 | Toll-like receptor 2 | 4q32 | R753Q A-16934T 2258G/A, 896A/G (rs4696480 (T > A), rs3804099 (T > C), rs3804100 (T > C), rs5713708 (G > A) |
German Italian Italian Ukrainian German |
(Niebuhr et al. 2010; Mrabet-Dahbi et al. 2008; Niebuhr et al. 2008) (Salpietro et al. 2011) (Salpietro et al. 2011) (Levchenko et al. 2013) (Potaczek et al. 2011; Oh et al. 2009) |
|
| |||||
| TLR4 | Toll-like receptor 4 | 9q32-q33 | rs4986790 (A > G) rs4986791 (C > T) (rs2770150 (T > C), rs6478317 (A > G), rs1927911 (C > T), rs2149356 (C > T), rs4986790 (A > G), rs4986791 (C > T), rs7873784 (G > C), rs1927906 (A > G) A-896G |
Italian Ukrainian German |
(Salpietro et al. 2011) (Levchenko et al. 2013) (Oh et al. 2009; Weidinger et al. 2006) |
| German | (Weidinger et al. 2006) | ||||
|
| |||||
| TLR6 | Toll-like receptor 6 | 4p14 | Ser249Pro rs5743810 (T> C) T597C C1350T |
German Dutch |
(Hoffjan et al. 2005) |
|
| |||||
| TLR9 | Toll-like receptor 9 | 3p21.3 | C-1237T | German | (Novak et al. 2007) |
|
| |||||
| DEFB1 | Human β-defensin 1 | 8p23 | 2266T>C 1241T>G |
Korean | (Kim et al. 2009) |
| 692 A>G 1654 A>G 20 G>A 5′-UTR 44 C>G 5′-UTR 52 G>A 5′-UTR |
Egyptian Mexican Brazilian |
(Mohamed et al. 2009) (Prado-Montes et al. 2007) (Segat et al. 2010) |
|||
|
| |||||
| Cytokines and related genes | |||||
|
| |||||
| IL-4 | Interleukin 4 | 5q31–33 | −590 C/T 1098G/T 589C>T −33 C/T |
Egyptian Czech Japanese Chinese Czech Macedonian Candian Egyptian |
(Hussein et al. 2014) (Kayserova et al. 2012) (Walley et al. 2001) (Chang et al. 2006) (Kayserova et al. 2012) (Stavric et al. 2012) (He et al. 2003) (Hussein et al. 2014) |
|
| |||||
| IL-4R α | Interleukin 4 receptor alpha | 16p11.2-12.1 | −3112C > T, −1803T > C, −327C > A, −326A > C −186G > A |
Japanese | (Hosomi et al. 2004) |
| 1727G > A 1199C > A, 1242T > G, 1507C > T 1727G > A I50 V |
British, Japanese Chinese |
(Callard et al. 2002) (Chang et al. 2006; Oiso et al. 2000) |
|||
| Q576R 3223C/T |
Egyptian | (Hussein et al. 2014) | |||
| Japanese | (Hosomi et al. 2004) | ||||
|
| |||||
| STAT6 | signal transducer and activator of transcription | 12q13.3–q14.1 | 2964 G > A 2892 C/T 1315-GT repeat in exon 1 |
Egyptian | (Hussein et al. 2014) |
| Chinese Japanese |
(Chang et al. 2006) (Tamura et al. 2003) |
||||
|
| |||||
| IL-10 | Interleukin 10 | 1q31-q32 | 1082A > G 819T > C 592A > C 1082A/G, −819C/T, −592A/C --7616AGG |
Macedonian Chinese German Czech |
(Stavric et al. 2012) (Chang et al. 2006) (Hosomi et al. 2004) (Kayserova et al. 2012) |
|
| |||||
| IL-6 | Interleukin 6 | 7p21 | −174C > G −922A > G |
German | (Hosomi et al. 2004) |
| −174C/G nt565A/G |
Czech | (Kayserova et al. 2012) | |||
|
| |||||
| TNF-α | Tumor necrosis factor alpha | 6p21.3 | −308 G > A 1031T > C, −863C > A, −857C > T, −308G > A −238G > A |
British Chinese |
(Rafatpanah et al. 2003) (Chang et al. 2006) |
| AG cdn25 | Macedonians | (Stavric et al. 2012) | |||
|
| |||||
| TNF-β | Tumor necrosis factor beta | 6p21.3 | 238G > A 308G > A |
German | (Hosomi et al. 2004) |
|
| |||||
| IL-1 α | Interleukin 1 alpha | 2q14 | −899T > C | Macedonians | (Stavric et al. 2012) |
|
| |||||
| IFNγ | Interferon gamma | 12q14 | 874 A>T | Macedonians | (Stavric et al. 2012) |
|
| |||||
| IL-1β | Interleukin 1 beta | 2q14 | 511C > T, 3953T > C, 3953T > C 1418T > C 315T > C |
German British Macedonian |
(Hosomi et al. 2004) (Rafatpanah et al. 2003) (Stavric et al. 2012) |
|
| |||||
| IL1RN | Interleukin 1 receptor antagonist | 2q14.2 | variable number of tandem repeat in intron 2 | German | (Hosomi et al. 2004) |
|
| |||||
| IL1RL1 (ST2) | Interleukin 1 receptor-like 1 (Suppression of tumorigenicity 2) | 2q12 | 26999G > A 2992C > T, 5283G > A, 5860C > A, 11147C > T, 744C > A 27639A > G |
Japanese | (Shimizu et al. 2005) |
|
| |||||
| IL-5 | Interleukin 5 | 5q31.1 | 703C > T | Japanese | (Yamamoto et al. 2003) |
|
| |||||
| IL-12β | Interleukin 12beta | 5q31.1-q33.1 | 1188A > C 4237 G > A, 4496A > G 4510G > A |
Japanese Chinese |
(Tsunemi et al. 2002) (Chang et al. 2006) |
|
| |||||
| IL-12Rβ | Interleukin 12 receptor beta | 19p13.1 | 111A > T 2C > T, 4443C > T 5970 G > C 17183T > C 17369C > T 25748T > C 27637A > T |
Japanese | (Takahashi et al. 2005) |
|
| |||||
| IL-13 | Interleukin 13 | 5q31 | 1111C > T 1024C > T 704A > C 1103C > T Arg144Gln Arg 130 Gln 1111C > T, 1293C > T, Arg144Gln |
Chinese Japanese German Japanese German Canadian German Japanese |
(Chang et al 2006) (Tsunemi et al. 2002) (Hummelshoj et al. 2003) (Tsunemi et al. 2004) (Folster-Holst et al. 2005) (He et al. 2003) (Hummelshoj et al. 2003) (Tsunemi et al. 2002) |
|
| |||||
| IL-18 | Interleukin 18 | 11q22.2-q22.3 | 132A > G, 133C > G 137G > C, 113T > G 127C > T |
German | (Novak et al. 2005) |
|
| |||||
| TGF β1 | Transforming growth factor beta 1 | 19q13.2 | 1 915 G > C 869T > C 590C > T |
British | (Arkwright et al. 2001) |
|
| |||||
| GM-CSF | Granulocyte macrophage colony-stimulating factor | 5q31.1 | 677A > C 1916T > C |
British | (Rafatpanah et al. 2003) |
| 3606T > C 3928C > T |
Japanese Canadian |
(Saeki et al. 2006) (He et al. 2003) |
|||
|
| |||||
| IL-9 | Interleukin 9 | 5q31–35 | 4091G>A | Korean | (Namkung et al. 2011) |
|
| |||||
| IL-9R | Interleukin 9 receptor | Xq/Yq | 1737C>T | Korean | (Namkung et al. 2011) |
|
| |||||
| Chemokines and related genes | |||||
|
| |||||
| CCL5 (RANTES) | Chemokine (C-Cmotif) ligand 5 (Regulated upon activation, normally T cell expressed +secreted ) | 17q11.2-q12 | 28C>G 403 G>A 2518A > G |
German Japanese Hungarian |
(Nickel et al. 2000) (Bai et al. 2005) (Kozma et al. 2002) |
|
| |||||
| CCL11 | chemokine(C-Cmotif) ligand 11 (eotaxin 1) | 17q21.1-q21.2 2 | 426C > T, 384A > G |
Japanese | (Wakugawa et al. 2002) |
|
| |||||
| CCL17 (TARC) | chemokine(C-Cmotif) ligand 17 (Thymus and activation-regulated chemokine) | 16q13 | 431C > T | Japanese | (Gangur and Oppenheim 2000) |
|
| |||||
| CCR3 | Chemokine (C-Cmotif) receptor3 | 3p21.3 | 1052T > C | American | (Tsunemi et al. 2003) |
|
| |||||
| CCR4 | Chemokine (C-Cmotif) receptor 4 | 3p24 | 1014C > T | Japanese | (Tsunemi et al. 2004) |
|
| |||||
| CMA1 | Mast cell chymase 1 | 14q11.2 | (−1903A > G | Japanese Italian |
(Iwanaga et al. 2004) (Weidinger et al. 2005) |
|
| |||||
| Drug-metabolizing genes | |||||
|
| |||||
| GSTP1 | Glutathione S-transferase pi | 11q13 | 1404A > G 2294C > T |
Russian | (Safronova et al. 2003) |
|
| |||||
| NAT | N-acetyl transferase | 8p23.1-p21.3 | 481C > T 590G > A 857G > A |
Russian Caucasian |
(Makarova et al. 2005) (Ueda et al. 2003) |
|
| |||||
| Other genes | |||||
|
| |||||
| CTLA4 (CD152) | Cytotoxic T-lymphocyte-associated antigen-4 | 2q33 | 49A > G | Chinese | (Yang et al. 2004) |
|
| |||||
| KLK (SCCE) | Kallikrein (stratum corneum chymotryptic enzyme) | 19q13.33 | AACCAACC variant of the KLK7 (SCCE) | British | (Vasilopoulos et al. 2004) |
|
| |||||
| RUNX1 | Runt-related transcription factor 1 binding site between solute carrier | rs734232 | Japanese | (Hosomi et al. 2004) | |
|
| |||||
| IRF-2 | Interferon regulatory factor 2 | 4q35 | 829C>T 830C>T 684C>T 467G>A 921G>A), 10-bp deletion in 3′ UTR 1739[ATCCC]8>6 |
Japanese | (Nishio et al. 2001) |
|
| |||||
| FCER1B | High affinity IgE receptor beta chain | 11q13 | RsaIin2, RsaIex7 | British | (Cox et al. 1998) |
|
| |||||
| PHF11 | Plant homeodomain Zink finger 11 protein | 13q14 | intron3 T>C 3UTR G>A |
Australian | (Jang et al. 2005) |