Skip to main content

Table 1 Candidate genes and rationale for selection for staining in human cochlear samples. Entries are sorted by ascending p values

From: A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens

Candidate gene

Protein name

Associated phenotype

Selection rationale

Lead SNP

Chr

Coordinates (bp)

P

TRIOBP

TRIO and F-actin-binding protein

Hearing difficulty

dbSNP, literature

rs739138

22

38,116,507–38,157,805

4.08E−12

PTK2/FAK

Focal adhesion kinase 1

Hearing difficulty

Proximity, literature

rs1962104

8

141,604,684–141,932,130

6.25E−11

UBE3B

Ubiquitin-protein ligase E3B

Hearing difficulty

dbSNP, literature

rs1558804

12

109,788,598–110,042,348

1.57E−10

MMAB

Corrinoid adenosyltransferase

Hearing difficulty

dbSNP, GTEX

rs1558804

12

109,788,598–110,042,348

1.57E−10

LMX1A

LIM homeobox transcription factor 1-alpha

Hearing difficulty

Proximity, literature

rs7525101

1

165,087,254–165,112,224

4.58E−10

EYA4

Eyes absent homolog 4

Hearing aida

Hearing difficultyb

dbSNP, literature

rs9321402a

rs9493627b

6

133,789,728–133,812,872

1.85E−09a

3.49E−13b

MMP2

72 kDa type IV collagenase

Hearing difficulty

Proximity, literature

rs78528263

16

55,474,324–55,507,592

2.41E−09

LMO7

LIM domain only protein 7

Hearing difficulty

dbSNP, literature

rs920701

13

76,343,051–76,455,056

7.04E−09

SYNJ2

Synaptojanin-2

Speech-in-noisea

Hearing difficultyb

dbSNP, literature

rs138501510a,b

6

158,600,947–158,600,947

1.08E−08a

1.12E−13b

GRM5

Metabotropic glutamate receptor 5

Hearing difficulty

Proximity, literature

rs12785875

11

88,486,635–88,537,621

1.46E−08

TYR

Tyrosinase

Hearing difficulty

Proximity, literature

rs12785875

11

88,486,635–88,537,621

1.46E−08

NOX4

NADPH oxidase 4

Hearing difficulty

Proximity, literature

rs12785875

11

88,486,635–88,537,621

1.46E−08

  1. a,b denote that associations were found for two traits and notate the corresponding strongest associated lead SNPs and p values. Lead SNPs were generated with the clumping algorithm in Plink v1.90b3n [116]. Clumping takes into consideration the linkage disequilibrium between proximal associated SNPs and determines the strongest associated independent SNPs within a genomic region. These are referred to as “lead SNPs”