Table 3.
Single Nucleotide Variations and Single Nucleotide Polymorphisms for NOX Isoforms and their Regulatory Subunits.
| Gene | RS number | Amino Acid | Nuc. Change | Disease | Supporting Publications |
|---|---|---|---|---|---|
| NOX1 [-] | rs142303829 | p.R241C | c.721C>T | Inflammatory Bowel Disease (IBD), very early onset | (1167) |
| rs34688635 | p.D360N | c.1078G>A | IBD, very early-onset | (777) | |
| NOX2 [+] | rs137854588 | p.R73Term | c.217C>T | CGD | (105) |
| rs137854591 | p.R91Term | c.271C>T | CGD | (1172) | |
| rs139670417 | p.R229H | c.686G>A | Crohn's Disease | (1169) | |
| rs137854585 | p.P415H | c.1244C>A | CGD | (41) | |
| rs13306300 | p.G472S | c.1414G>A | CGD | (1170, 1171) | |
| rs137854593 | p.D500G | c.1499A>G | CGD | (1173, 1174) | |
| rs151344490 | p.L505R | c.1514T>G | CGD | (1175) | |
| NOX3 [-] | rs757425327 | p.R74Q | c.221G>A | Autism spectrum disorder | (1176, 1177) |
| No rs # listed | p.A318= | c.954G>A | Developmental disorder | (1177, 1178) | |
| NOX4 [-] | rs34495256 | p.(E3dup) | c.7_9dupGAG | Functional Phenotype: Reduced Protein Expression | (1181) |
| rs1836882 | n/a |
c.-8021A>G
*mut. in promoter at −8021 |
*non-coding exception for NOX4
Increased ROS in peripheral blood mononuclear cell |
(1182) | |
| NOX5 [+] |
no rs # listed
rs144275394 |
p.H55R
p.V446M |
c.164A>G
c.1336G>A |
Congenital Heart Disease?
Development Disorder |
(1183) (1184) |
| p22phox [-] | rs4673 | p.H72Y | c.C214T | Coronary Artery Disease (CAD), reduced susceptibility | (1186, 1188, 1330) |
| aka c.C242T | Lower Risk of Metabolic Syndrome | (1331) | |||
| Cerebrovascular Disease & Stroke, enhanced risk | (1205, 1206) | ||||
| Atherosclerotic Stroke | (1196–1199, 1212) | ||||
| CGD | (126) | ||||
| Cardiovascular events | (1192, 1195) | ||||
| ESKD, Increased Hypertension Risk | (1200) | ||||
| Diabetes | (1201–1204, 1212) | ||||
| Diabetic Nephropathy | (822) | ||||
| Myocardial Infarction | (1191) | ||||
| Ulcerative Colitis | (1332) | ||||
| rs1049255 | 3'UTR Δ | c.A640G | Atherosclerosis, subclinical | (1197) | |
| *complementary, reverse strand | Coronary artery disease | (1195) | |||
| Coronary artery disease, younger patients | (1187) | ||||
| Non-Hodgkin Lymphoma; lower p22 levels & NOX activity | (1216) | ||||
| rs9932581 | n/a | c.-932A>G | Diabetic Kidney disease | (1201) | |
| promoter substitution −932 from start codon | Diabetic Atherosclerosis | (1217) | |||
| Organ Rejection | (1208) | ||||
| Hypertension & Blood Pressure | (1194) | ||||
| CAD | (1333) | ||||
| p47phox [+] | rs139225348 | p.G83R | c.247G>A | Dermatophytosis (Fungal Infection); Functional Defect in neutrophils | (1219, 1220) |
| Crohn’s disease, pediatric IB | (1169) | ||||
| rs201802880 | p.R90H | c.269G>A | Systemic Lupus Erythematosus | (1221) | |
| Sjögren's Syndrome | (1221) | ||||
| Rheumatoid Arthritis | (1221) | ||||
| CGD | (1222) | ||||
| Spontaneous Abortion | (1334) | ||||
| p67phox [-] | rs17849501 | p.A202A | c.606G>A | Systemic Lupus Erythematosus | (1223) |
| rs13306581 | p.T279M | c.836C>T | CGD | (1174) | |
| rs35937854 | p.V297A | c.890T>C | Systemic Lupus Erythematosus | (1223) | |
| NOXO1 [-] | rs200352693 | p.(His198Profs*38) | c.593delA | Cardiovascular Traits | (1224) |
| NOXA1 [+] | rs564363346 | p.V318M | c.952G>A | Autism spectrum disorder | (1176) |
| rs953881310 | p.S373L | c.1118C>T | Developmental disorder | (1178) | |
| DUOX1 [+] | rs371937236 | p.R50Q | c.149G>A | Hypothyroidism | (1225) |
| rs747868839 | p.R746W | c.2236C>T | Hypothyroidism | (1225) | |
| rs145668427 | p.R925W | c.2773C>T | Central serous chorioretinopathy, in females | (1226) | |
| DUOX2 [-] | rs199957468 | p.L171P | c.512T>C | Inflammatory Bowel Disease, increased risk of | (79) |
| rs201197899 | p.T423I | c.1268C>T | Hypothyroidism | (79), (1225) | |
| rs753591292 | p.Y1450H | c.4348T>C | Hypothyroidism | (1227, 1228) | |
| IBD, increased risk; disturbed microbiota-immune homeostasis | (79) | ||||
| rs376623263 | p.E1469K | c.4405G>A | Hypothyroidism | (1225, 1229–1231) (79, 1227) |
|
| DUOXA1[-] | rs149960164 | p.T213M | c.638C>T | Hypothyroidism | (1232) |
| rs16977686 | p.S313G | c.937A>G | Hypothyroidism | (1232) | |
| DUOXA2[+] | rs200789957 | p.L204P | c.611T>C | Hypothyroidism | (1233) |
| IBD, increased risk | (79) | ||||
| rs4774518 | p.Y246X | c.738C>G | Hypothyroidism | (1234) (1235) |
Initial Source Database - HGMD (Qiagen). SNVs and SNPs in the exonic regions of the gene are listed with minor exceptions.
Notes: Primary entries in bold are SNPs in one or more of the population cohorts; RS numbers are SNV/SNP identifiers that, when available, are searchable in NIH dbSNP database and in a few cases the gnomAD database.
The [+] or [-] symbol following the gene name indicates which strand the gene is on and whether it is forward- or reverse-expressed. Thus, some mutations are indicated as they would appear on the [+] strand even if they are represented by the more relevant complementary mutation on the [-] strand for that gene.
In the case wherein there were few or no SNPs that could be found for a particular component, SNVs are listed and indicated by shaded rs numbers. MAFs obtained from a combination of dbSNP and gnoMAD databases. Supportive publications curated by HGMD and via PubMed search. HGMD listings that did not have dbSNP or gnomAD links were not deemed SNPs.
This deep inquiry into SNV/SNPs was conducted in September 2023.