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. 2024 Jun 1;21(6):961–970. doi: 10.1513/AnnalsATS.202303-215OC

Table 1.

Characterization of 23 genome-wide significant obstructive sleep apnea loci

Chr Position Ref Alt RSIDS Nearest Genes Consequence Info Fin.enr* MAF MAF Cases MAF Control β P Value BMI-adjusted P Value
1 96567092 C CT rs34013490 PTBP2 Intergenic 0.99 0.97 0.66 0.67 0.66 0.05 6.33 × 10−9 3.91 × 10−7
2 102507453 A C rs76229479 SLC9A4 Intron 0.99 0.70 0.10 0.09 0.10 −0.08 2.64 × 10−9 4.97 × 10−10
3 132779050 C T rs114106239 NPHP3-ACAD11 Intron 0.98 2.43 0.04 0.03 0.04 −0.12 1.19 × 10−8 1.40 × 10−4
3 169159948 A T rs181010833 MECOM Intron 0.99 210.62 0.04 0.03 0.04 −0.12 1.52 × 10−8 2.69 × 10−4
4 47311502 C CA rs34925548 GABRB1 Intron 0.98 1.19 0.70 0.69 0.70 −0.05 1.12 × 10−8 7.15 × 10−4
6 7746430 T C rs60700772 BMP6 Intron 0.99 1.02 0.22 0.23 0.22 0.05 2.20 × 10−8 1.18 × 10−5
7 69980355 A G rs11981973 AUTS2 Intron 1.00 1.03 0.18 0.19 0.18 0.06 4.72 × 10−10 3.94 × 10−5
7 75029963 A C rs17148727 RCC1L Intron 0.97 1.00 0.68 0.67 0.68 −0.05 1.02 × 10−8 2.40 × 10−3
9 76652155 G A rs679880 PRUNE2 Noncoding transcript exon 0.99 0.92 0.75 0.75 0.74 0.05 2.53 × 10−8 4.36 × 10−5
9 125375595 C T rs10986730 GAPVD1 Upstream gene 0.99 1.23 0.52 0.51 0.53 −0.05 1.16 × 10−9 3.12 × 10−6
10 18302297 G A rs113955098 CACNB2 Intron 0.98 3.26 0.07 0.06 0.07 −0.10 3.38 × 10−10 1.01 × 10−4
10 100866753 G T rs61873510 PAX2 Intergenic 0.98 0.86 0.30 0.31 0.30 0.05 3.28 × 10−8 1.12 × 10−3
11 28365912 G A rs6484367 METTL15 Intron 0.99 0.99 0.50 0.51 0.50 0.05 1.13 × 10−9 4.00 × 10−6
12 56632124 A C rs59333125 BAZ2A Intron 0.99 1.13 0.08 0.08 0.08 −0.08 1.32 × 10−8 1.28 × 10−5
12 97359374 C T rs10507084 NEDD1 Intergenic 0.99 3.03 0.18 0.19 0.18 0.06 8.23 × 10−11 1.22 × 10−7
12 107586546 C T rs2016950 BTBD11 Intron 0.99 1.33 0.16 0.15 0.16 −0.06 4.13 × 10−8 4.48 × 10−5
14 79424334 C T rs2370982 NRXN3 Intron 1.00 1.12 0.24 0.25 0.24 0.05 7.97 × 10−9 8.14 × 10−3
16 53771295 C A rs11075985 FTO Intron 1.00 0.98 0.43 0.45 0.43 0.08 2.15 × 10−26 2.59 × 10−5
16 73774720 C G rs13333522 PSMD7 Intron 0.99 1.08 0.53 0.53 0.53 0.04 4.06 × 10−8
19 45679046 T A rs10423928 GIPR Intron 1.00 1.19 0.26 0.25 0.26 −0.05 7.55 × 10−9 3.20 × 10−1
20 52363114 G C rs4809902 ZFP64 Intron 1.00 0.78 0.23 0.22 0.23 −0.06 1.51 × 10−9 2.59 × 10−5
20 59073311 C T rs140896965 PRELID3B Regulatory region 0.99 9.68 0.05 0.04 0.05 −0.11 1.11 × 10−9 6.40 × 10−2
23 155574640 G A rs5940397 TMLHE Intron 1.00 1.01 0.75 0.77 0.75 0.05 2.05 × 10−10 9.70 × 10−7

Definition of abbreviations: Alt = alternate allele; Chr = chromosome; POS = genomic position in build hg38; Ref = reference allele; Info = imputation quality score; MAF = minor allele frequency.

Effect sizes and allele frequencies are reported in terms of alternate allele.

*

Finnish enrichment, computed using the Genome Aggregation Database data comparing Finnish versus other European populations.