Table I Baseline Characteristic and Skin Measurement Information of the Subjects of This Study Characteristic Average ± SD or N (%) Population () 1,079 Gender (female, %) 100% Age (years, mean ± SD) 40.81 ± 10.90 Phenotype (equipment) Measure item Code Average ± SD or N (%) Wrinkle (Primos CR) Eye (right) Average roughness (Ra) W101 20.81 ± 5.24 Maximum depth (Rmax) W102 198.47 ± 71.97 Glabella Average roughness (Ra) W103 25.18 ± 7.06 Maximum depth (Rmax) W104 193.75 ± 69.61 Moisture (Corneometer) Glabella Moisture content (A.U.) A101 64.84 ± 9.97 Cheek (right) Moisture content (A.U.) A102 70.13 ± 9.48 Melanin (Mexameter) Pigmentation site Melanin (M.I.) M101 166.15 ± 35.83 Nonpigmentation site Melanin (M.I.) M102 119.25 ± 28.35 Brightness (CM-700d) Pigmentation site Brightness (L*) R201 59.95 ± 2.62 Nonpigmentation site Brightness (L*) R202 63.22 ± 2.33 Oil (Sebumeter) Glabella Oil content (g/cm)2 μ L101 85.19 ± 61.23 Cheek (right) Oil content (g/cm)2 μ L102 48.57 ± 42.49 Sensitivity (10% lactic acid) Sensitive S101 534 (49.5%) Nonsensitive S101 545 (50.5%) JOURNAL OF COSMETIC SCIENCE 66
Table II Summary of Signifi cant Skin Phenotype Loci according to GWAS SNP Chr:BP SNP clusterallele a Minor Annotation eQTL gene MAF β (SE) b P Nearby gene (500 kb) SNP Pos. This study KOR ASN Wrinkle rs117381658 1:157,353,684 5 T FCRL5 Downstream 0.07 0.04 0.01 0.952 (0.167) 1.52 × 10-8 rs1961184 10:63,733,371 2 T REEP3 Downstream REEP3 (heart) 0.08 0.05 0.07 0.840 (0.164) 3.60 × 10-7 rs1929013 1:244,230,708 15 G ADSS Downstream 0.34 0.35 0.33 -0.410 (0.092) 8.29 × 10-6 rs7042102 9:92,001,508 4 T SPTLC1 Downstream SPTLC1 (skin) 0.41 0.44 0.45 0.392 (0.088) 9.30 × 10-6 Moisture rs9873353 3:31,233,850 3 T Intergenic 0.07 0.02 0.02 -0.567 (0.117) 1.47 × 10-6 rs34567709 17:61,492,168 5 G TBX4 Downstream TBX4 (adrenal gland)0.14 0.12 0.14 0.406 (0.086) 2.53 × 10-6 rs1362404 16:51,973,264 3 G Intergenic 0.24 0.28 0.29 -0.319 (0.069) 3.76 × 10-6 rs7853290 9:71,638,804 1 A TRPM3 Upstream CEMIP2 (adipose) 0.08 0.07 0.09 0.533 (0.115) 3.96 × 10-6 rs143938096 15:79,098,451 4 A CTSH Upstream 0.07 0.08 0.06 -0.534 (0.116) 4.40 × 10-6 rs12955989 18:24,106,190 4 G TTC39C Intron 5 CABYR (artery) 0.20 0.21 0.15 0.338 (0.073) 4.57 × 10-6 Pigmentation rs74653330 15:27,983,407 6 T OCA2 Exon 15 (missense) 0.07 0.07 0.03 -1.092 (0.189) 1.04 × 10-8 rs34466224 19:3,219,644 13 A NCLN Downstream NCLN (skin) 0.22 0.22 0.22 0.602 (0.124) 1.33 × 10-6 rs11685354 2:217,996,408 7 A TNS1 Intron 1 RUFY4 (lung) 0.43 0.41 0.45 -0.477 (0.099) 1.82 × 10-6 rs4653497 1:227,355,326 6 T CDC42BPA Upstream CDC42BPA (skin) 0.49 0.49 0.44 0.446 (0.098) 6.51 × 10-6 rs59784607 16:25,774,628 4 T HS3ST4 Intron 1 0.21 0.19 0.13 -0.541 (0.121) 8.13 × 10-6 rs76548385 7:1,291,682 10 T UNCX Downstream 0.09 0.09 0.07 0.768 (0.173) 9.92 × 10-6 Oil rs308971 3:12,075,120 7 G SYN2 Intron 1 SYN2 (skin) 0.24 0.26 0.19 -0.325 (0.071) 4.60 × 10-6 rs151209785 18:74,549,791 8 C CNDP1 Intron 1 0.07 0.03 0.02 -0.556 (0.121) 5.19 × 10-6 rs9577919 13:113,861,036 1 T GAS6 Intron 1 TMEM255B (skin) 0.06 0.05 0.07 0.598 (0.133) 7.92 × 10-6 rs8107564 19:6,964,536 5 A INSR Downstream 0.11 0.11 0.09 0.430 (0.097) 9.67 × 10-6 rs6490805 13:23,510,670 4 C TNFRSF19 Upstream 0.18 0.16 0.15 0.352 (0.079) 9.84 × 10-6 GWAS OF SKIN AGING IN KOREAN POPULATION 67
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