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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation T92A

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women With Thyroid Diseases

Thyroid diseases are pathologies that frequently affect pregnant women causing serious complications. This current research aims to find out whether the expression of TSHβX1 splice variant and D2 Thr92Ala polymorphism in the DIO2 gene are associated with thyroid disease in Mexican pregnant women.

NCT03612908
Conditions
  1. Pregnancy Related
  2. Hypothyroidism
  3. Hyperthyroidism
MeSH:Hypothyroidism Hyperthyroidism
HPO:Hyperthyroidism Hypothyroidism

TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women With Thyroid Diseases. --- Thr92Ala ---

TSHβX1 and D2 THR92ALA in Pregnancy Thyroid diseases are pathologies that frequently affect pregnant women causing serious complications. --- THR92ALA ---

This current research aims to find out whether the expression of TSHβX1 splice variant and D2 Thr92Ala polymorphism in the DIO2 gene are associated with thyroid disease in Mexican pregnant women. --- Thr92Ala ---

TSHβX1 splice variant expression.. Frequency of positive cases for the TSHβX1 splice variant identified by real-time polymerase change reaction.. D2 Thr92Ala polymorphism.. Allele frequency identification of the D2 Thr92Ala polymorphism by genotyping method.. Inclusion Criteria: - Pregnant women attended at the "Mónica Pretelini Sáenz" Maternal-Perinatal Hospital (HMPMPS), Health Institute of the State of Mexico (ISEM), Toluca, Mexico. --- Thr92Ala ---

TSHβX1 splice variant expression.. Frequency of positive cases for the TSHβX1 splice variant identified by real-time polymerase change reaction.. D2 Thr92Ala polymorphism.. Allele frequency identification of the D2 Thr92Ala polymorphism by genotyping method.. Inclusion Criteria: - Pregnant women attended at the "Mónica Pretelini Sáenz" Maternal-Perinatal Hospital (HMPMPS), Health Institute of the State of Mexico (ISEM), Toluca, Mexico. --- Thr92Ala --- --- Thr92Ala ---

Primary Outcomes

Description: Frequency of positive cases for the TSHβX1 splice variant identified by real-time polymerase change reaction.

Measure: TSHβX1 splice variant expression.

Time: Baseline.

Secondary Outcomes

Description: Allele frequency identification of the D2 Thr92Ala polymorphism by genotyping method.

Measure: D2 Thr92Ala polymorphism.

Time: Baseline.


HPO Nodes


HP:0000821: Hypothyroidism
Genes 438
TGIF1 KMT2D UBR1 SLC16A2 MAGEL2 NODAL ND6 PIEZO1 TBL1X TREX1 NODAL MAGEL2 GTF2IRD1 INSR BRAF DUOXA2 SHH FGFR1 TSHR GNAS ARVCF SHH CTNNB1 YY1 PIK3C2A RREB1 TF SOX3 OCA2 GATA1 NKX2-5 SVBP NDN NKX2-1 GPC1 DLL1 BUB1B FGF8 GAS1 B3GLCT SIM1 FOXH1 CLIP2 BMP4 ELN TPO HIRA DNAH1 GP1BB SLC26A4 FDX2 BAP1 COX1 DLL1 SEC24C TXNRD2 SIX3 NKX2-5 ELN TRH GLIS3 DUOXA2 FOXH1 FOXP3 ADAMTSL1 KATNIP CDON AKT1 TSC1 IGSF1 MEN1 TRMT10A XRCC4 HESX1 PTRH2 GAS1 PDE4D PROP1 TRNW MRAP SUFU TRNL1 TTC37 DACT1 LIG4 PLAGL1 TDGF1 CDON LHX4 GNE IGF2 HPD TMEM67 SHH DISP1 IL7R DUOX2 NKX2-1 PPP1R15B ZIC2 ARL6IP6 THRA DISP1 SRY HSD17B3 SLC25A4 IL2RA ENPP1 FOXH1 TDGF1 AIP EXOSC2 TG LIG4 MDM4 TRNS1 GLI2 POU1F1 FGF8 TRNH LHX4 RAG1 PAX8 DUOX2 PCSK1 SNRPN FMR1 FANCI TREX1 SCN4A FGFR1 PROP1 STAR DCAF17 IFIH1 IYD DNM1L PDE4D EXT2 IRS4 ROBO1 GNAS WDR11 ND1 GATA6 PAX8 ND4 SUFU STAT1 DISP1 RMRP STAG2 BAP1 SIX3 TRNQ RAI1 SNRPN ZBTB20 SMARCB1 LHX4 HSD17B3 NIN ADA RNASEH2B ZIC2 XRCC4 SLC5A5 SKIV2L STAT1 FGF8 SHH HBB OCA2 PIK3CA NODAL FOXP3 CEP57 CEP57 SLC26A4 PTCH1 ZIC2 TRNF ALMS1 KANSL1 FGF8 DLL1 HBB TRHR TRAF7 ACP5 CDON RNASEH2A TRNS2 CDON DUOX2 HNF4A ZFP57 FOXH1 CDON MARS1 CDKN1C TONSL TSHR NNT GAS1 PTEN PTCH1 STUB1 GLI2 ANAPC1 APC TSHB DISP1 BCOR POLG2 IFNG NDN SLC26A4 ANAPC1 FGFR1 CHD7 ACP5 MC2R OCA2 PHF21A ZIC2 FLCN NNT LIFR PLVAP ARNT2 KCNJ10 OTX2 DDOST SMO INSR WFS1 LEP PROKR2 ADAT3 PMM2 FOXI1 RBM28 ITCH APC2 PTRH2 KAT6B NDN RAG2 JAK1 NSD1 SPOP CACNA1C JMJD1C GLI2 BUB1 CDH23 PDGFB TBX1 LEPR TBL2 TBX1 LHX3 FOXE1 FMR1 KAT6B CTNS FOXA2 PPP1R15B FOXP1 RFC2 FUCA1 LEPR RNASEH2C PLAA TRNW LHX3 SGPL1 PROP1 RRM2B LIMK1 HESX1 TWNK WDR4 SMARCE1 SIX3 GLI2 SAA1 FARSA TANGO2 TBC1D24 TRAPPC9 PROP1 TGIF1 SEMA3E CDON TBX1 HNRNPK ALG8 MCM8 FOXI1 IQSEC2 OPA1 HYMAI PRDM16 TRNS1 DEAF1 ZIC2 AFF4 FOXE1 NPHS1 COX2 PAX8 FOXH1 STEAP3 ALX4 NKX2-5 TSC2 COX3 SOX3 FGF8 HBB HESX1 LRP4 RERE POLG MTTP SKI TGIF1 SETBP1 STAT3 SMC1A WFS1 GLI3 GLI2 TDGF1 DCLRE1C ALMS1 POU3F4 HMGA2 PTCH1 LHX4 TERT PIK3CA GLI2 GABRD ITCH GAS1 GAS1 NF2 PTCH1 POU1F1 DYRK1A SLC26A4 SAMHD1 UFD1 C1QBP TGIF1 TREX1 HNF1B ABCC6 PLAG1 GTF2I MAGEL2 TSHR TG SRD5A3 KISS1R KANSL1 PTCH1 EIF2AK3 KCNJ11 CLPB DNAJC19 TDGF1 FUT8 GCH1 GPR161 RAI1 HFE HNRNPK TGIF1 SALL1 SETD2 TSHB SIX3 POMC TDGF1 TRNL2 TRNL1 DLL1 TRNN SNRPN SHH SLC5A5 AKT1 SIX3 DMXL2 TBCK ADAR CHD7 ND5 STAG2 TSHR BUB3 SLC6A17 MAGEL2 TRIP13 MLXIPL HLA-DRB1 AIRE LIG4 PAX8 TPO NKX2-1 APOE NODAL GRM7 ABCC8 LRBA IYD POU1F1 BAZ1B DLL1 COMT DMXL2 TANGO2 FLII IL2RG KCNJ10 NODAL KCNAB2 CTNS PRKAR1A KDM6A SALL1 BTNL2 DISP1
Protein Mutations 2
A2215D T92A
SNP 0