Table 1.
Overview of Regions Sequenced and TDT Results
| Region | Candidate Gene in Region | Target Region (GRCh37) | Size (kb) | Associated SNP from GWAS | Associated SNP by Sequencing | psequence | Population | LD | |
|---|---|---|---|---|---|---|---|---|---|
| GWAS | 1p36 | PAX7 | chr1: 18,772,300–19,208,054 | 435.8 | rs742071 | rs1339062 | 8.88 × 10−4 | European | r2 = 0.726, D’ = 0.997 |
| 1p22 | ARHGAP29 | chr1: 94,324,660–95,013,109 | 688.4 | rs560426 | rs560426 | 6.06 × 10−12 | Asian | – | |
| 1q32 | IRF6 | chr1: 209,837,199–210,468,406 | 631.2 | rs2013162 | rs11119348 | 8.13 × 10−12 | Asian | r2 = 0.541, D’ = 0.991 | |
| 8q24 | chr8: 129,295,896–130,354,946 | 1059.1 | rs987525 | rs7017665 | 8.70 × 10−11 | European | r2 = 0.847, D’ = 0.983 | ||
| 10q25 | VAX1 | chr10: 118,421,625–119,167,424 | 745.8 | rs7078160 | rs10886036 | 8.08 × 10−9 | Asian | r2 = 0.941, D’ = 0.999 | |
| 17p13 | NTN1 | chr17: 8,755,114–9,266,060 | 510.9 | rs9788972 | rs9904526 | 3.07 × 10−9 | Asian | r2 = 0.670, D’ = 0.999 | |
| 17q22 | NOG | chr17: 54,402,837–54,957,390 | 554.6 | rs227731 | rs227727 | 7.32 × 10−8 | Asian | r2 = 0.982, D’ = 0.991 | |
| 20q12 | MAFB | chr20: 38,902,646–39,614,513 | 711.9 | rs13041247 | rs2865509 | 1.85 × 10−8 | Asian | r2 = 0.752, D’ = 0.870 | |
| Linkage | 9q22 | FOXE1 | chr9: 100,357,692–100,876,841 | 519.1 | – | rs10983654 | 1.31 × 10−5 | Asian | – |
| Candidate Gene | 4p16 | MSX1 | chr4: 4,825,126–4,901,385 | 76.3 | – | rs59138205 | 1.7 × 10−4 | Asian | – |
| 14q22 | BMP4 | chr14: 54,382,690–54,445,053 | 62.4 | – | rs751399 | 0.01 | Asian | – | |
| 10q26 | FGFR2 | chr10: 123,096,374–123,498,771 | 402.4 | – | rs12569773 | 1.10 × 10−4 | Asian | – | |
| 9q22 | PTCH1 | chr9: 98,133,647–98,413,162 | 279.5 | – | rs61076166 | 2.71 × 10−5 | European | – |