Table 1.
Non-synonymous polymorphisms identified in the RXR/PPAR genes from 1200 schizophrenia and ToMMo 3.5KJPN samples.
| Gene | Nucleotide change | Amino acid change | dbSNP ID | MAFa (alternation alleles/total alleles) | |
|---|---|---|---|---|---|
| Schizophrenia | RXRA | c.138G>C | p.Gln46His | rs1588288848 (New) | 0.00042 (1/2400) |
| c.178G>A | p.Gly60Ser | rs773076567 | 0.00042 (1/2400) | ||
| c.188C>T | p.Pro63Leu | rs531899705 | 0.00083 (2/2400) | ||
| c.665C>T | p.Ser222Leu | rs139536056 | 0.00042 (1/2400) | ||
| c.1094C>T | p.Thr365Met | rs746817210 | 0.00042 (1/2400) | ||
| RXRB | c.292C>G | p.Pro98Ala | rs759432300 | 0.00042 (1/2400) | |
| c.310C>T | p.Pro104Ser | rs201700806 | 0.00042 (1/2400) | ||
| c.581C>T | p.Pro194Leu | rs1338024369 (New) | 0.00042 (1/2400) | ||
| RXRG | c.185C>T | p.Pro62Leu | rs781134922 (New) | 0.00083 (2/2400) | |
| c.254C>T | p.Ala85Val | rs145797395 | 0.00042 (1/2400) | ||
| c.584G>A | p.Arg195His | rs765348774 | 0.00042 (1/2400) | ||
| PPARA | c.209–2delA | – | rs1601773792 (New) | 0.00042 (1/2400) | |
| c.351C>A | p.His117Gln | rs765089560 (New) | 0.00042 (1/2400) | ||
| c.418G>A | p.Asp140Asn | rs113379388 | 0.00460 (11/2400) | ||
| c.421C>T | p.Arg141Cys | rs766370613 | 0.00042 (1/2400) | ||
| c.676C>T | p.Arg226Trp | rs1254453296 (New) | 0.00042 (1/2400) | ||
| c.680T>C | p.Val227Ala | rs1800234 | 0.05309 (121/2400) | ||
| c.1184G>A | p.Gly395Glu | rs200858936 | 0.00629 (15/2400) | ||
| PPARD | c.89A>G | p.Asn30Ser | rs149040923 | 0.00042 (1/2400) | |
| c.623C>T | p.Thr208Met | rs766827287 | 0.00042 (1/2400) | ||
| c.1144G>A | p.Glu382Lys | rs777270771 | 0.00042 (1/2400) | ||
| PPARG | c.34C>G | p.Pro12Ala | rs1801282 | 0.03270 (76/2400) | |
| c.550A>G | p.Lys184Glu | rs1575106051 (New) | 0.00042 (1/2400) | ||
| c.1111G>A | p.Glu371Lys | rs141683496 | 0.00042 (1/2400) | ||
| ToMMo 3.5KJPNb | RXRA | c.22C>T | p.Pro8Leu | rs1175967955 | 0.00014 (1/6916) |
| c.68C>T | p.Thr23Met | rs747209166 | 0.00014 (1/6898) | ||
| c.138G>C | p.Gln46His | rs1588288848 (New) | 0.00029 (2/6900) | ||
| c.178G>A | p.Gly60Ser | rs773076567 | 0.00073 (5/68,92) | ||
| c.242C>T | p.Thr81Ile | -c | 0.00015 (1/6520) | ||
| c.635G>T | p.Gly212Val | – | 0.00015 (1/6892) | ||
| c.639G>C | p.Lys213Asn | – | 0.00015 (1/6886) | ||
| c.724G>A | p.Val242Met | rs1383908613 | 0.00014 (1/6978) | ||
| c.1094C>T | p.Thr365Met | rs746817210 | 0.00014 (1/7022) | ||
| RXRB | c.44C>T | p.Pro182Ser | – | 0.00030 (2/6696) | |
| c.884C>T | p.Ala295Val | rs143679412 | 0.00014 (1/6938) | ||
| c.907A>G | p.Arg303Gly | – | 0.00014 (1/6944) | ||
| c.403G>A | p.Arg468Gln | rs760368861 | 0.00015 (1/6860) | ||
| RXRG | c.74C>T | p.Thr25Ile | rs939696922 | 0.00014 (1/7078) | |
| c.112C>T | p.Pro38Ser | – | 0.00014 (1/7084) | ||
| c.154C>T | p.Ala85Val | rs145797395 | 0.00084 (6/7102) | ||
| c.283C>A | p.Pro95Thr | – | 0.00028 (2/7094) | ||
| c.395G>A | p.Gly132Glu | – | 0.00014 (1/7106) | ||
| c.454G>A | p.Gly152Arg | – | 0.00014 (1/7108) | ||
| c.1004G>A | p.Arg335Gln | rs757609630 | 0.00028 (2/7090) | ||
| c.1157A>G | p.Asn386Ser | rs1339580376 | 0.00014 (1/7088) | ||
| c.1280G>A | p.Arg427His | rs901274500 | 0.00014 (1/7048) | ||
| c.1340C>G | p.Pro447Arg | – | 0.00014 (1/6986) | ||
| PPARA | c.29C>T | p.Pro10Leu | rs1401227237 | 0.00014 (1/6968) | |
| c.65C>G | p.Pro22Arg | rs1193512118 | 0.00044 (3/6824) | ||
| c.113C>T | p.Ser38Leu | rs575811356 | 0.00015 (1/6832) | ||
| c.116A>G | p.Gln39Arg | – | 0.00015 (1/6844) | ||
| c.418G>A | p.Asp140Asn | rs113379388 | 0.00501 (35/6988) | ||
| c.484C>G | p.Leu162Val | rs1800206 | 0.00014 (1/7032) | ||
| c.508G>A | p.Ala170Thr | rs939270657 | 0.00014 (1/7054) | ||
| c.680T>C | p.Val227Ala | rs1800234 | 0.05570 (395/7092) | ||
| c.1021C>T | p.Arg341Cys | - | 0.00014 (1/7096) | ||
| c.1184G>A | p.Gly395Glu | rs200858936 | 0.00619 (44/7106) | ||
| PPARD | c.89A>G | p.Asn30Ser | rs149040923 | 0.00088 (6/6812) | |
| c.623C>T | p.Thr208Met | rs766827287 | 0.00028 (2/7064) | ||
| c.941G>A | p.Arg314His | rs767428713 | 0.00014 (1/7056) | ||
| c.1256G>A | p.Arg419Gln | rs200904269 | 0.00015 (1/6782) | ||
| PPARG | c.34C>G | p.Pro12Ala | rs1801282 | 0.03054 (217/7106) | |
| c.43G>T | p.Asp15Tyr | – | 0.00042 (3/7106) | ||
| c.199A>G | p.Thr67Ala | rs778975987 | 0.00014 (1/7104) | ||
| c.205G>A | p.Asp69Asn | – | 0.00014 (1/7108) | ||
| c.284A>G | p.Tyr95Cys | rs1477623791 | 0.00028 (2/7106) | ||
| c.302G>A | p.Glu101Lys | – | 0.00014 (1/7104) | ||
| c.676T>G | p.Ser226Ala | – | 0.00014 (1/7080) | ||
| c.743A>G | p.Asp248Gly | – | 0.00014 (1/7100) | ||
| c.826G>A | p.Val276Ile | rs147996578 | 0.00014 (1/7100) | ||
| c.947G>A | p.Arg316His | rs28936407 | 0.00014 (1/7098) | ||
| c.1147A>G | p.Ser383Gly | – | 0.00014 (1/7090) | ||
| c.1242A>G | p.Ile414Met | – | 0.00014 (1/7096) |