Table 4. Comparison of mutation-containing haplotypes between cases and controls.
| Genes | Haplotype * | SNPs in haplotype | Physical distance (bp) | % in cases | % in controls |
|---|---|---|---|---|---|
| DUOXA2 | TCCCGCCCCTATMAGTTTATCCTCC | rs397358, rs1473003, rs12913288, rs11635836, rs4775709, rs2467844, rs28662287, rs8024922, rs199138, rs269866, rs269862, rs269856, p.Y138X, rs16977681, rs175088, rs2271435, rs1648314, rs1648306, rs1648298, rs1706828, rs12439643, rs10519018, rs1706767, rs17533116, rs11636114 | 392,600 | 66.7% (8/12) | 0.00% (0/90) |
| DUOX2 | CCTTCTCCCTMATAGTTTATTCTCG | rs397358, rs1473003, rs12913288, rs11635836, rs4775709, rs2467844, rs28662287, rs8024922, rs199138, rs269866, p.R885Q, rs269862, rs269856, rs16977681, rs175088, rs2271435, rs1648314, rs1648306, rs1648298, rs1706828, rs12439643, rs10519018, rs1706767, rs17533116, rs11636114 | 392,600 | 50.0% (3/6) | 0.00% (0/90) |
| PCCB | AATAATGTCGTMGATTC | rs16843560, rs4678435, rs3772390, rs9845457, rs561307, rs16843829, rs2290131, rs576771, rs1279840, rs9856769, rs518972, p.Y439C, rs696520, rs7620314, rs900048, rs4521165, rs7616204 | 775,000 | 100.0% (3/3) | 0.00% (0/90) |
| SLC25A13 | TGGCAMCCCAC | rs184381, rs10267710, rs6465486, rs3779486, rs2301629, p.R285Pfs*2, rs12666465, rs6465496, rs35974282, rs4729249, rs12669236 | 399,200 | 100.0% (4/4) | 0.00% (0/90) |
| GALT | GCCMCCT | rs10972175, rs11791806, rs10814130, p.R224Q, rs3808868, rs1104748, rs2812365 | 37,700 | 100.0% (4/4) | 0.00% (0/90) |
The haplotype frequencies in mutation-positive cases were compared with those in 90 control individuals from the Korean HapMap.
*M represents recurrent mutations (p.Y138X in DUOXA2, p.R885Q in DUOX2, p.Y439C in PCCB, p.R285Pfs*2 in SLC25A13, p.R224Q in GALT).
Abbreviation: SNP, single nucleotide polymorphism.