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Lupus Eritematoso Sistémico (LES)

Nefritis Lúpica Pedíatrica
1. Trios (n=18) y Duos (n=46)
  1. PTPN22-rs2476601 [A/G] Trios, sobretransmite 17:6, R2:1.71, S2:2.5, Im:0.97.
  2. TNF-rs1800629 [A/G], R2:166 ,S2:2.5, Im:1.07
  3. VDR-BsmI rs1544410 [C/T], R2:2.4, S2:2.5, Im:1.64
  4. Sexo dependiente: 73.9% [n=34] Niñas casos
2. Casos (n=92) / Controles (n=100)
  1. Sexo dependiente: 78.2% [n=72] Niñas casos. OR:2.6 [1.3 - 4-9]
  2. PTPN22-rs2476601 [A/G]: Genotipo "AG" OR:5.23 [1.3 - 20.1], alelo A OR:8.29 [2.3 - 29.1], alelo G OR:0.12 [0.03 - 0.42]
    1. PTPN22-rs2476601 [A/G]: alelo A se relaciona con Vitamina D, Leptina. Alelo G con Anti-SM, Anti-C1q, Anti-Pribosomal.
  3. VDR - ApaI rs7975232 [A/C]: Genotipo "AC" OR:2.6 [1.2 - 5.3]
  4. CASOS: Vitamina D 57.2ng/mL, Leptina 11.9ng/mL, Adiponectina 15.8ng/mL. CONTROLES: Vitamina D 40.5ng/mL, Leptina 2.19ng/mL, Adiponectina 2.17ng/mL. (P<0.05).
  5. Haplotipo TNF-*DRB1-*DQB1 [G/G/1501/0602] OR:9.4 [2.1 - 40.8]
Nefritis Lúpica Tipo IV
1. Caso (n=49) /Control (n=97)
  1. Locus: VDR / Vitamina D
    1. VDR - FokI rs2228570 [A/G]: Genotipo AA OR: 3.47 [1.1 - 10.2], AG OR:3.95 [1.7 - 8.9], GG OR:0.28 [0.0 - 0.8], alelo "A" OR:2.16 [1.3 - 3.5], alelo G OR:0.46 [0.2 - 0.7]
      1. Haplotipo VDR TaqI/ApaI/BsmI/FokI: A/C/C/A OR:3.54 [1.1 - 10.6]
      2. VDR - FokI rs2228570 [A/G] insuficiencia de vitamina D: Genotipo AA OR:3.73 [1.05 - 13.2], GG OR:0.26 [0.0 - 0.95], alelo A OR:2.03 [1.1 - 3.7], alelo G OR:0.49 [0.2 - 0.9]
    2. CASOS: Vitamina D 37.2ng/mL. CONTROLES: Vitamina D 36.5ng/mL. (P>0.05).
  2. Locus: PTPN22
    1. PTPN22-rs2476601 [A/G]: Genotipo "AG" OR:13.3 [1.5 - 114] - 20.1], GG OR:0.75 [0 - 0.6], alelo A OR:12.5 [1.4- 106], alelo G OR:0.79 [0.0 - 0.06]
  3. Locis: TNF, *C, *B, *DRB1, *DQB1
    1. *C: 07 OR:3.36 [1.6 - 6.8]
    2. *B: 08 OR:12.1 [2.5 - 58]
    3. *DQB1: *0502 OR: 5.3 [1.008 - 28], *0602 OR:4.9 [1.9 - 12]
    4. Haplotipo *C/*B/TNF/TNF/*DRB1/*DQB1: 07/08/A/G/0301/0201
  4. Locis: KIR, FokI / Vitamina D
    1. Genes Inhibidores: 3DL1 OR:3.06 [1.4 - 6.3] , 3DL2 OR:13.5 [4.5 - 40], 3DL3 OR:49.3 [15 - 154]
      1. VDR - FokI rs2228570 [A/G] en sujetos portadores de genes kir: 3DL1 AG OR:8.6 [2.7 - 27], 3DL2 AG OR:3.6 [1.3 - 9.4],3DL3 AG OR:6.5 [1.6 - 24],
    2. Genes activadores: 2DS1, 2DS2, 2DS3, 2DS4del, 2DS5 (Factores protectores)
      1. VDR - FokI rs2228570 [A/G] en sujetos portadores de genes kir: 2DS4del AA OR:4.02 [1.1 - 14], AG OR:4.82 [1.8 - 12], GG OR:0.24 [0 - 0.8]
    3. VDR - FokI rs2228570 [A/G]: Genotipo AA OR: 3.47 [1.1 - 10.2], AG OR:3.95 [1.7 - 8.9], GG OR:0.28 [0.0 - 0.8], alelo "A" OR:2.16 [1.3 - 3.5], alelo G OR:0.46 [0.2 - 0.7]
      1. VDR - FokI rs2228570 [A/G] insuficiencia de vitamina D: Genotipo AA OR:3.73 [1.05 - 13.2], GG OR:0.26 [0.0 - 0.95], alelo A OR:2.03 [1.1 - 3.7], alelo G OR:0.49 [0.2 - 0.9].
        Genotipos de FokI en portadores de genes kir 3DL1, 3DL2 y 2DS4del
  5. Sexo dependiente: 79.5% [n=39] Mujeres casos. OR:2.73 [1.22 - 6.11]
Enfermedad Tiroidea
1. Caso (n=50) / Control (n=100)
  1. CASOS: Vitamina D 43ng/mL. CONTROLES: Vitamina D 38.6ng/mL. (P<0.05).
  2. Sexo dependiente: 98% [n=49] Mujeres casos. OR:34 [4.5 - 256]]
  3. PTPN22-rs2476601 [A/G]: Genotipo "AG" OR:25.3 [3.1 - 204] - 20.1], alelo A OR:27.1 [3.4 - 211], alelo G OR:0.04 [0.0 - 0.28]
    1. PTPN22-rs2476601 [A/G]: Tiroglobulina Genotipo AA [495ng/mL], AG [317ng/mL], GG [304ng/mL] (p<0.05).
  4. VDR - FokI rs2228570 [A/G]: Genotipo GG OR:3.2 [1.2 - 8.4], GG OR:0.3 [0.1 - 0.8], alelo "A" OR:1.93 [1.17 - 3.1], alelo G OR:0.51 [0.3 - 0.8]
    1. Haplotipo VDR TaqI/ApaI/BsmI/FokI: A/C/C/A OR:2.78 [1.1 - 7]
  5. *DRB1: *01 OR:0.47 [0.2 - 0.9], *15 OR:2.25 [1.14 - 4.41]
    1. Haplotipo *DRB1/*DQB1: 0411/0302 OR:0.047 [0 - 0.5], 0801/0402 OR:0.29 [0.1 - 0.7]
LES Adultos
1. Caso (n=133) / Control (n=100)
  1. VDR - FokI rs2228570 [A/G]: alelo "A" OR:1.58 [1.05 - 2.3], alelo G OR:0.63 [0.4 - 0.9]
    1. Haplotipo VDR TaqI/ApaI/BsmI/FokI: A/C/C/A OR:2.28 [1.12 - 4.6]
  2. CASOS: Vitamina D 49.5ng/mL. CONTROLES: Vitamina D 38.6ng/mL. (P<0.05).
  3. *DRB1: *03 OR:2.15 [1.1 - 3.9], *15 OR:2.97 [1.4 - 6.1]
    1. Haplotipo *DRB1/*DQB1: 0701/0201 OR:0.1 [0.0 - 0.8], 0411/0302 OR: 0.22 [0.0 - 0.85], 0302/0301 OR:7.8 [0.8 - 71]

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	Created by Luis Carlos Fang over 9 years ago

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