Table 1. Genome-Wide Significant Loci Associated With Tinnitus in the UKB Cohort and Replication in the MVP Cohort.
Marker | Chromosome No. | Positiona | Allele 1 | Allele 2 | Allele 1 frequency | UKB discovery cohort (n = 172 995) | MVP replication cohort (n = 260 832) | Direction of effectc | Predicted genes in risk locus | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INFO score | β coefficient (SE) | P value | Allele 1 frequency | OR (SE) | P valueb | ||||||||
rs143424888 | 1 | 103456996 | C | Insd | 0.510 | 0.973 | 0.023 (0.004) | 8.5 × 10−9 | 0.505 | 1.040 (0.006) | 1.4 × 10−10 | Same | COL11A1, RNPC3 |
rs17249745 | 4 | 102547366 | A | G | 0.967 | 0.897 | –0.072 (0.012) | 1.3 × 10−9 | 0.964 | 1.014 (0.016) | .38 | Opposite | BANK1 |
rs553448379 | 6 | 43288656 | T | TA | 0.386 | 0.989 | –0.023 (0.004) | 2.1 × 10−8 | 0.403 | 0.979 (0.006) | 2.28 × 10−4 | Same | CCND3, TAF8, GLTSCR1L, C6orf226, CNPY3, GNMT, PEX6, MEA1, KLHDC3, RRP36, CUL9, DNPH1, TTBK1, SLC22A7, CRIP3, ZNF318, ABCC10, DLK2, LRRC73, POLR1C, YIPF3, POLH, MRPS18A, SLC29A1 |
rs11249981 | 8 | 10147398 | C | T | 0.447 | 0.990 | –0.022 (0.004) | 4.6 × 10−8 | 0.465 | 0.978 (0.006) | 1.14 × 10−4 | Same | ERI1, TNKS, MSRA |
rs72815660 | 10 | 106614698 | A | G | 0.960 | 0.986 | –0.060 (0.010) | 9.7 × 10−9 | 0.958 | 1.001 (0.015) | .97 | Opposite | SORCS3 |
rs11174489 | 12 | 62852271 | G | A | 0.625 | 0.995 | –0.024 (0.004) | 3.8 × 10−9 | 0.646 | 1.001 (0.006) | .85 | Opposite | MON2, C12orf61, PPM1H, TMEM5 |
Abbreviations: A, adenosine; C, cytosine; G, guanidine; INFO, imputation information score; Ins, insertion variant; MVP, Million Veteran Program; OR, odds ratio; SE, standard error; T, thymidine; UKB, UK Biobank.
Indicates base pair position on chromosome (GR37 Human Genome Build hg19).
Significance in MVP at P < .00833 (Bonferroni-correction for the 6 loci tested for replication).
Indicates comparison of single-nucleotide variation effect between UKB and MVP.
Insertion of CACGTGATCT.