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. 2024 Jul 5;16:88. doi: 10.1186/s13148-024-01697-9

Table 2.

Descriptive features of human studies highlighting the gene symbols and gene regions where differential DNA methylation was observed as well as definitions of hearing loss used for each study

Human studies
Author/year All genes Hearing loss genes DNA methylation regions Hearing loss phenotype
Bouzid, A., et al. 2022 TNFSF11 PromoterChr13:4257390442574865 Unspecified
Bouzid, A., et al. 2018 CDH23 CDH23 CpG island site of the junction exon 54intron 54 in CDH2 Hearing loss thresholds ≥ 20 dB
Bouzid, A., et al. 2018 227 GENES IN TOTAL REPORTED ASTN2 Exon1 Chr9:119449474-119449519 Hearing loss defined by pure tone audiometry at 0.25 0.5 1 2 4 and 8 kHz frequencies
ATP2B3 Promoter ChrX:152801006-152801151
BTBD2 Exon1 Chr19:2015326-2015433
C19orf55 Promoter Chr19:36247138-36247267
CCDC85C Exon1 Chr14:10006965-100070237
CEACAM1 Promoter Chr19:43034432-43034565
ERBB3 Exon2 Chr19:677925-677973
FSTL3 Exon1 Chr5:75699163-75699285
IQGAP2 Exon1 Chr6:73332056-73332153
KCNQ5 Exon1 Chr17:4458422-4458556
MYBBP1A Exon1 Chr17:7311711-3711829
NLGN2 Promoter Chr12:133195302-13319539
P2RX2 Exon1 Chr12:133195405-133195423
PGP Exon2 Chr16:2261684-2262961
RAB2B Promoter Chr14:21945595-2196532
RUSC1 Exon1 Chr1:155293868-155294305
SOCS3 Exon1_2Chr17:76355149-76355243
TMED7-TICAM2 Exon1 Chr5:114961500-114961615
Brown, A. L., et al. 2017 PAK4 Chr19: cg14010619

Hearing loss defined by pure tone audiometry

Grade 0 =  < 20 dB

Grade 1 =  > 20 dB at ≥ 6 kHz

Grade2 =  > 20 dB at ≥ 4 kHz

Grade 3 =  > 20 dB at ≥ 2 kHz

Grade 4 =  > 40 dB at ≥ 2 kHz

Flook, M., et al. 2021

H3Y1

ACSBG1

IL32

Meniere Disease
Guo, L., et al. 2023 C3  chr19:6710806-6711077  Speech-Pure Tone Audiometry of ≥ 25 dB in the better ear was used to define hearing loss
TEX19  chr17:80303573-80303880
GBX2  chr2:237071725-237072438
CD247  chr1:167408553-167408867
SPATA18  chr4:52942852-52943232
ZCCHC8  chr12:122983976-122984305
CD247  chr1:167408553-167408867
TEX19  chr17:80303573-80303880
C3  chr19:6710806-6711077
MRGPRG-AS1  chr11:3243153-3243455
MKX  chr10:28034352-28034507
TMEM1 02  chr17:7339626-7340311
SPATA18  chr4:52942852-52943232
GRIN3B  chr19:1008897-1009874
LINC02249  chr15:30517467-30517618
PRDM16  chr1:2990062-2990407
OSR2  chr8:99986099-99986645
S100A13  chr1:153606037-153606314
RBMS2  chr12:56882420-56882571
ALG10  chr12:34499106-34501260
GPC5  chr13:92051618-92051955
NRN1  chr6:6002421-6002736
C21orf58  chr21:47737945-47738279
CD247
Hao, J., et al. 2018 KCNJ11 Not specified

Frequency range of 0.7 k–6 kHz for DPOAE

Grade 0 = DPOAE meets SNR criteria normal range

Grade 1 = DPOAE meets SNR criteria abnormal range

Grade 2 = DPOAE does not meet SNR criteria

Kuo, P. L., et al. 2021 N/A N/A N/A

Pure tone audiometry 0.5– kHz

Higher Pure Tone Audiometry = worse hearing

Lassaletta, L., et al. 2006

RASSF1A

RARB

VHL

PTEN

HMLH1

RB1

ER

TP16

CASP8

TIMP3

MGMT

DAPK

TP73

GSTP1

TP14

THBS

Not specified Pure Tone Average threshold of 25db – 62 dB recorded in all patients who displayed hearing loss symptoms
Wolber, L. E., et al. 2014

TCF25

PGM3

CDO1

NOC2L

MYBPC3

FGFR1

POLE

VPS2B

HNRNPA

APOCC4

Not specified Hearing loss defined by pure tone average for frequencies 0.125–8 kHz according to the recommendations of the British Society of Audiology
Xu, J., et al. 2017 SLC26A4 SLC26A4 Chr7:107300940107301001 Pure Tone Average greater than 60 dB hearing loss, control less than 26 dB
Xu, L., et al. 2020

Rb1

CASP8

MeCP2

chr13:48877561- 48877684

chr2:202097129- 202122658

chrX:153363708- 154097766

Pure Tone Average threshold above 25 dB considered as hearing loss