TABLE 1.
Summary of NIHL susceptible genes and their locus.
| Groups of genes | Gene | Full name | Genetic locus | References |
| Antioxidant genes | APEX1 | Apurinic/Apyrimidinic endodeoxyribonuclease 1 | rs1130409, rs1760944 | Shen et al., 2016; Ding et al., 2019 |
|
ATP2B2 (PMCA2) |
ATPase plasma membrane Ca2+ transporting 2 | rs1719571, rs3209637, rs14154 | Kozel et al., 2002; Li X. et al., 2016; Yan et al., 2013; Zhang S. et al., 2019 | |
| CAT | Catalase | rs769217, rs208679, rs7943316, rs769214, rs475043, rs12273124, rs494024, rs564250 | Konings et al., 2007; Xia et al., 2011; Yang et al., 2015; Li T. et al., 2020 | |
| GPX1 | Glutathione peroxidase 1 | rs1987628 | Wen et al., 2014; Li J. Y. et al., 2020 | |
| GST | Glutathione S-transferase | rs1695, rs1049055, rs10712361 | Lin et al., 2009; Shen et al., 2012; Loukzadeh et al., 2019; Zong et al., 2019; Li Y. H. et al., 2020 | |
| NFE2L2 (NRF2) | Nuclear factor erythroid 2-related factor 2 | rs77684420, rs6726395, rs1962142, rs6721961 | Honkura et al., 2016; Wang et al., 2019 | |
| NOX3 | NADPH Oxidase 3 | rs12195525, rs33652818 | Lavinsky et al., 2015; Xin et al., 2021 | |
| PON2 | Paraoxonase 2 | rs12026, rs7785846, rs12704796, rs987539, rs7493, rs7786401 | Cao et al., 2013; Li X. et al., 2016; Bhatt et al., 2020; Wu et al., 2020; Zhou H. et al., 2020 | |
| SOD1 | Superoxide dismutase 1 | rs2070424, rs10432782 | Liu et al., 2010b | |
| SOD2 | Superoxide dismutase 2 | rs4880, rs2855116 | Ohlemiller et al., 1999; Fortunato et al., 2004; Liu et al., 2010a; Wang et al., 2014; Wang J. et al., 2017 | |
| Potassium ion cycling related genes | KCNQ1 | Potassium voltage-gated channel subfamily Q member 1 | rs800336, rs2056892, rs2011750, rs2283158, rs2283179, rs2283205, rs231899, rs760419, rs163171, rs8234, rs7945327, rs11022922, rs718579, rs463924 | Van Laer et al., 2006; Pawelczyk et al., 2009; Ding et al., 2020 |
| KCNQ4 | Potassium voltage-gated channel subfamily Q member 4 | rs34287852, rs2769256, rs727146, rs4660468, rs12143503, rs4660470 | Van Laer et al., 2006; Pawelczyk et al., 2009; Guo et al., 2018b; Zhou W. H. et al., 2020 | |
| KCNE1 | Potassium voltage-gated channel subfamily E regulatory subunit 1 | rs915539, rs2070358, rs1805127, rs1805128 | Van Laer et al., 2006; Ding et al., 2020 | |
| KCNJ10 | Potassium voltage-gated channel subfamily J member 10 | rs1130183, rs1186675 | Van Laer et al., 2006; Pawelczyk et al., 2009; Bhatt et al., 2020 | |
| KCNMA1 | Potassium calcium-activated channel subfamily M alpha 1 | rs696211, rs1436089 | Konings et al., 2009b; Zhang X. et al., 2019 | |
| GJB1 (Cx32) | Gap Junction Protein Beta 1 | rs747181, rs1997625 | Van Laer et al., 2006; Pawelczyk et al., 2009 | |
| GJB2 (Cx26) | Gap Junction Protein Beta 2 | rs3751385, rs5030700, rs137852540 | Van Laer et al., 2006; Pawelczyk et al., 2009; Zhou et al., 2016 | |
| GJB3 (Cx31) | Gap Junction Protein Beta 3 | rs476220 | Van Laer et al., 2006 | |
| GJB4 (Cx30.3) | Gap Junction Protein Beta 4 | rs1998177, rs755931 | Van Laer et al., 2006; Pawelczyk et al., 2009 | |
| GJB6 (Cx30) | Gap Junction Protein Beta 6 | rs945370, rs2065796, rs2065797 | Van Laer et al., 2006 | |
| SLC12A2 | Solute carrier family 12 member 2 | rs1962291, rs1560637, rs790153, rs790156, rs10089 | Van Laer et al., 2006 | |
| Cilia structure related genes | CDH23 | Cadherin related 23 | rs1227049, rs1227051, rs3802711, rs3752752, rs41281334 | Yang et al., 2006; Kowalski et al., 2014; Yu et al., 2016; Bhatt et al., 2020; Jiao et al., 2020; Jiang et al., 2021 |
| PCDH15 | Protocadherin related 15 | rs11004085, rs7095441, rs1100085, rs10825122, rs1930146, rs2384437, rs4540756, rs2384375 | Konings et al., 2009b; Xu et al., 2017a,b | |
| MYH14 | Myosin heavy chain 14 | rs667907, rs588035 | Konings et al., 2009b; Fu et al., 2016 | |
| Heat shock protein genes 70 | HSPA1A | Heat shock protein family A member 1A | rs1043618, rs1061581 | Li et al., 2017 |
| HSPA1B | Heat shock protein family A member 1B | rs2763979 | Konings et al., 2009a; Chang et al., 2011 | |
| HSPA1L | Heat shock protein family A member 1L | rs2075800, rs2227956 | Chang et al., 2011; Li Y. H. et al., 2016; Li et al., 2017 | |
| DNA damage repair related genes | DNMT1 | DNA methyltransferase 1 | rs2228611 | Guo et al., 2018a |
| DNMT3A | DNA methyltransferase 3 alpha | rs749131, rs1550117 | Guo et al., 2018a | |
| EYA4 | EYA transcriptional coactivator and phosphatase 4 | rs3777781, rs212769, rs3813346, rs9321402, rs9493627 | Zhang et al., 2015; Yang Q. et al., 2016; Yang et al., 2017 | |
| OGG1 | 8-Oxoguanine DNA glycosylase | rs1052133 | Shen et al., 2014 | |
| Apoptosis related genes | CASP3 | Caspase 3 | rs1049216, rs6948 | Wu et al., 2017 |
|
ERK2 (MAPK1) |
Extracellular signal-regulated kinase 2 | Null (animal experiment) | Kurioka et al., 2015 | |
|
JNK1 (MAPK8) |
C-Jun N-terminal kinases 1 | rs11598320, rs8424 | Sun et al., 2021 | |
| Other NIHL susceptible genes | AUTS2 | Activator of transcription and developmental regulator | rs35075890 | Niu et al., 2021 |
| CARD8 | Caspase recruitment domain family member 8 | rs2043211 | Miao et al., 2021 | |
|
DFNA5 (GSDME) |
Gasdermin E | rs2521758 | Zhang et al., 2015 | |
| FAS | Fas cell surface death receptor | rs1468063, rs2862833 | Xu et al., 2021 | |
| FOXO3 | Forkhead box O3 | rs2802292, rs10457180, rs12206094 | Guo et al., 2017, Guo et al., 2018c; Jiao et al., 2017 | |
| GAPDH | Glyceraldehyde-3-phosphate dehydrogenase | rs6489721 | Wan et al., 2020 | |
| GRHL2 | Grainyhead like transcription factor 2 | rs3735715, rs1981361, rs666026, rs611419 | Li X. et al., 2013; Zhang et al., 2015; Xu et al., 2016; Yang Q. Y. et al., 2016; Li X. et al., 2020 | |
| GRM7 | Glutamate metabotropic receptor 7 | rs1485175, rs1920109, rs9826579 | Yu et al., 2018a,b | |
| HDAC2 | Histone deacetylase 2 | rs10499080, rs6568819 | Wang et al., 2021 | |
| HOTAIR | HOX transcript antisense RNA | rs4759314 | Wang B. et al., 2017 | |
| IL-6 | Interleukin 6 | rs1800795 | Braga et al., 2014 | |
| ITGA8 | Integrin subunit alpha 8 | rs10508489 | Xia et al., 2011 | |
| NCL | Nucleolin | rs7598759 | Grondin et al., 2015 | |
| NOTCH1 | Notch receptor 1 | rs3124594, rs3124603 | Ding et al., 2018 | |
| NRN1 | Neuritin 1 | rs3805789 | Liu et al., 2021 | |
| PER1 | Period circadian regulator 1 | rs2585405 | Chen et al., 2021 | |
| POU4F3 | POU class 4 homeobox 3 | rs1368402, rs891969 | Xu et al., 2016 | |
| PTPRN2 | Protein tyrosine phosphatase receptor type N2 | rs10081191 | Niu et al., 2021 | |
| SIK3 | Salt-inducible kinase 3 | rs493134, rs6589574, rs7121898 | Yin et al., 2020 | |
| STAT3 | Signal transducer and activator of transcription 3 | rs1053005 | Gao et al., 2021 | |
| TSP | Thrombospondin | Null (animal experiment) | Smeriglio et al., 2019 | |
| UBAC2 | UBA domain containing 2 | rs3825427 | Wan et al., 2022 | |
| WHRN | Whirlin | rs12339210 | Jiang et al., 2021 | |
| XPO5 | Exportin 5 | rs11077 | Wang et al., 2020 | |
| XRCC1 | X-Ray repair cross complementing 1 | rs1799782 | Ding et al., 2019 |