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. 2022 May 16;109(6):1077–1091. doi: 10.1016/j.ajhg.2022.04.010

Table 1.

Summary statistics of significantly associated loci identified in the genome-wide association meta-analysis of AHRI

SNP Chr Pos (hg19) EA OA EAF Beta SE p value Directiona Locus annotation
rs4660885 1 46243756 a G 0.4344 −0.007 9.00E−04 3.74E−12 --+--?----?-+---- IPP-[x]-MAST2
rs7525101 1 165109131 t C 0.4424 0.006 9.00E−04 8.64E−11 ++++-?++++?--++++ PBX1---[x]-LMX1A
rs6545432 2 54817683 a G 0.5091 0.007 9.00E−04 2.36E−13 ++++++?-++?++++++ [SPTBN1] intronic
rs741475 2 208087139 t C 0.5771 −0.006 9.00E−04 4.02E−10 -----?-+--?------ KLF7-[x]--CREB1
rs3915060 3 121712980 t C 0.7272 −0.006 1.00E−03 3.96E−09 +-+--?+-+-?+++--- [ILDR1] intronic
rs72622585b 3 181992315 t C 0.8252 0.009 1.30E−03 3.41E−13 ++-++--+++???-+++ SOX2---[x]---ATP11B
rs13148153 4 17517558 t c 0.1342 0.010 1.40E−03 2.64E−12 +++++?++++???-+++ [CLRN2] intronic
rs323693 5 2562593 t c 0.882 −0.010 1.40E−03 1.91E−12 --++-?--++?------ IRX4---[x]--IRX2
rs1981809 5 72920029 t c 0.4526 −0.009 9.00E−04 1.36E−20 -----+?-+-?+-+--- UTP15-[x]-ARHGEF28
rs4413512b 5 73077349 a g 0.5289 −0.010 9.00E−04 1.28E−25 -----?--+-?-+---- [ARHGEF28] intronic
rs13171669 5 148601243 a g 0.5682 −0.006 9.00E−04 1.61E−11 -----?+++-?------ [ABLIM3] intronic
rs115596275 6 32420218 c g 0.0213 0.024 3.50E−03 2.73E−12 ?+???++-?+???++++ HLA-DRA-[x]-HLA-DRB5
rs7764856b 6 32680640 a t 0.3435 0.007 1.00E−03 1.10E−10 ?+-??+++?-???++++ HLA-DQB1-[x]-HLA-DQA2
rs4714678 6 43342591 a g 0.4031 −0.009 9.00E−04 7.20E−20 +-++--+---?+----- ZNF318-[x]-ABCC10
rs9493627 6 133789728 a g 0.3191 0.009 1.00E−03 9.56E−18 ++++-+?+-+?-+++++ [EYA4] G>S
rs2296508 6 158497717 t c 0.4795 −0.006 9.00E−04 4.34E−10 --+++??-+-?++---- [SYNJ2] V>V
rs11238325 7 50853151 t c 0.7315 0.007 1.00E−03 1.97E−11 ++++-?++++?+-++++ [GRB10] intronic
rs4732339 7 138491839 a g 0.5864 0.006 9.00E−04 6.10E−10 ++++-?++-+?+-++++ TMEM213-[x]-KIAA1549
rs150903480 8 91376248 a g 0.0114 −0.025 4.40E−03 2.70E−08 ?-?+-+--+-?--+--- [LINC00534]
rs13268718 8 141687200 t g 0.5072 −0.005 9.00E−04 7.47E−09 +++-++-++-?--++-- [PTK2] intronic
rs2393729 10 63837016 t c 0.4218 −0.006 9.00E−04 3.07E−10 -++--??-+-?+++--- [ARID5B] intronic
rs143282422 10 73377112 a g 0.0112 0.032 4.60E−03 6.27E−12 ?+?++?++++???++++ [CDH23] A>T
rs1097215 10 94787804 a g 0.4752 −0.005 9.00E−04 1.11E−08 -+-+----+-?--+--- [EXOC6] intronic
rs10901863 10 126812270 t c 0.2683 0.011 1.10E−03 9.30E−23 ++-++?++-+?++++++ [CTBP2] 5′ UTR
rs7939493 11 8073610 a t 0.1911 −0.009 1.20E−03 2.47E−14 -++--?-+---??---- [TUB] intronic
rs141403654 11 47715487 a t 0.9837 −0.022 3.90E−03 2.52E−08 +-?--?-+-------+- [AGBL2] intronic
rs147893329b 11 57735006 c g 0.0107 0.028 4.80E−03 8.17E−09 +??++?++--+++++++ CTNND1--[x]-OR9Q1
rs566673 11 66401373 t g 0.5339 −0.005 9.00E−04 3.41E−08 --+-++?+--------- RBM14-[x]-RBM4
rs72963168 11 88943035 t c 0.7254 −0.009 1.00E−03 3.73E−19 -++--?------+---- [TYR] intronic
rs67307131 11 118480223 t c 0.654 −0.008 1.00E−03 4.62E−15 -+--+?---?-??+-?- [PHLDB1] intronic
rs7313797b 12 109896165 t c 0.5604 −0.006 9.00E−04 7.38E−12 ++++++?++-?------ [KCTD10] intronic
rs35887622b 13 20763620 a g 0.9854 −0.022 3.90E−03 2.59E−08 ?-?-+++++-?------ [GJB2] M>T
rs920701 13 76417101 t c 0.6357 −0.006 1.00E−03 5.06E−11 -+++--?-+-?------ [LMO7] intronic
rs9517282b 13 99059183 a c 0.548 −0.005 9.00E−04 3.54E−08 -+-+-?----?-+---- [FARP1] intronic
rs1566128 14 52514981 a g 0.4126 0.007 9.00E−04 1.42E−14 +--+++?+++?-+++++ [NID2] intronic
rs4132250 15 89229000 c g 0.778 0.007 1.10E−03 3.18E−11 +++++?++-+?++++++ ISG20-[x]--ACAN
rs62033400 16 53811788 a g 0.6044 0.005 9.00E−04 4.52E−08 ---+++-+-++-+-+++ [FTO] intronic
rs11643684 16 55490167 t g 0.2031 −0.007 1.10E−03 2.26E−09 --+--?------+---- IRX6--[x]-MMP2
rs13337678b 16 56379937 t c 0.5711 −0.005 9.00E−04 3.72E−08 ++-++??----+----- [GNAO1] 3′ UTR
rs222835 17 7134129 a g 0.4247 0.006 9.00E−04 4.81E−10 -++++??+++?-+++++ [DVL2] intronic
rs143796236 17 79495969 t c 0.0076 0.035 5.60E−03 2.73E−10 ?+?++?+??-???++++ [FSCN2] H>Y
rs11152089 18 52625943 t c 0.2134 0.007 1.10E−03 9.24E−10 +-++++++++?++-+++ [CCDC68] 5′ UTR
rs11881070 19 2389140 t c 0.2882 −0.006 1.00E−03 5.72E−09 ----+??---?+-+--- SPPL2B-[x]-TMRPS9
rs12980998b 19 4217510 a t 0.8135 −0.007 1.20E−03 1.02E−07 +---+?-?+-???---- [ANKRD24] T>S
rs61734651b 20 61451332 t c 0.0721 0.011 1.90E−03 8.16E−09 ?+-+-+++++?++++++ [COL9A3] R>W
rs5756795 22 38122122 t c 0.5419 −0.008 9.00E−04 3.65E−17 +-+++-----?++---- [TRIOBP] F>I
rs132931 22 38487526 a g 0.5869 −0.007 0.0009 1.59E−14 ++---+?---?------ [BAIAP2L2] intronic
rs36062310 22 50988105 a G 0.0427 0.027 0.0023 4.25E−32 ++++++---+?+-++++ [KLHDC7B] V>M

48 loci significantly (p < 5 × 10−8) associated with hearing loss. Abbreviations: Chr, chromosome; Pos, genomic position (bp); EA, effect allele; OA, other allele; EAF, effect allele frequency; Beta, effect size for EA; SE, standard error of effect size. Missense SNPs are listed in bold, with corresponding amino acid change.

a

Summary of effect direction for each study: + is risk increasing, - is risk decreasing, ? indicated the SNP was not present in sample cohort sequence: AGES, SA, FVG, RS2, RS3, DTR, HABC, FHS, RS1, EGC, SALT, STAGE, SALTY, TWINSUK, WGHS, FinnGen, UKBB. Locus annotation: single dash (-), <100 kb; double dash (--), 100–500 kb; triple dash (---), >500 kb.

b

No previous association with hearing loss in a GWAS.