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Report for Mutation T92A

Developed by Shray Alag, 2020.
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 Pregnancy Related Hypothyroidism 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


Hyperthyroidism
Genes 54
CACNA1S HLA-DRB1 COX1 HIRA AKT1 CDH23 TRNF PTEN SLC12A3 TRNH ND1 POLG2 MSTO1 ND4 GNAS TRNW COX3 RREB1 FOXP3 TRNL1 TSHR GNAS PIK3CA POLG SLC25A4 KCNJ18 COX2 TWNK TRNQ TBX1 GP1BB POLR3A RRM2B ARVCF TRNS2 SEC24C BTNL2 ND6 TSHR GABRA3 TRNS1 CACNA1S THRB JMJD1C MSTO1 CLCNKB ND5 SUGCT KCNJ18 TBX1 COMT TSHR TSHR UFD1
Hypothyroidism
Genes 311
UBR1 CLPB TBC1D24 BAZ1B HNF1B TMEM67 BCOR OPA1 LIG4 OTX2 WFS1 POU3F4 GAS1 RAI1 TRNL1 NNT LHX4 SLC16A2 HSD17B3 ND4 IQSEC2 RFC2 TGIF1 TREX1 CDON POU1F1 WDR11 RERE DACT1 SALL1 PROKR2 PIK3CA PAX8 DNAH1 THRA SLC26A4 XRCC4 LRP4 PTRH2 ALX4 TWNK LEPR TRNQ TBX1 IYD PCSK1 GTF2IRD1 PROP1 HESX1 TRNN FOXI1 PMM2 FGF8 MARS1 ENPP1 C1QBP ARNT2 GPC1 CDON DISP1 CDH23 TSHR RBM28 BRAF IFNG GLI3 SOX3 ITCH BMP4 FOXA2 TBX1 NKX2-1 STAT1 CTNS CACNA1C LHX3 ALG8 HIRA TRIP13 B3GLCT CEP57 KIAA0556 MLXIPL HSD17B3 DEAF1 KDM6A LEP CLIP2 TSC1 CTNNB1 TRNF PTEN FUCA1 LHX3 ELN BUB1B GLIS3 PDE4D LIG4 PAX8 PLVAP FLCN KMT2D GLI2 PTCH1 TRAPPC9 BUB3 TSC1 LEPR IFIH1 SLC25A4 DUOX2 FUT8 KISS1R EXOSC2 DNM1L TBL2 ALMS1 ROBO1 PDGFB AIP WFS1 DCAF17 POU1F1 FANCI ELN PIK3C2A SRY ARVCF MC2R SEC24C IL2RG SUFU ND6 HESX1 DUOXA2 SETBP1 STEAP3 GNAS KCNJ10 JMJD1C FOXH1 TRNS1 TG ND5 DMXL2 HNF4A KAT6B COMT UFD1 FMR1 EIF2AK3 SUFU LIFR SKI STAT3 TRNL2 TTC37 TSC2 GTF2I TDGF1 TXNRD2 APOE AKT1 SGPL1 WDR4 RAG1 SMARCB1 TRNH MCM8 TF POLG2 PROP1 PRDM16 EXT2 IYD TSC2 NF2 LHX4 BUB1 NNT TSHR PAX8 PIEZO1 FOXP3 DLL1 SLC26A4 TRNL1 NKX2-1 PPP1R15B SLC5A5 LRBA KCNJ10 POLG LHX4 GLI2 ZIC2 TSHR GABRD TRNW ARL6IP6 GP1BB SIX3 POU1F1 DCLRE1C SKIV2L HESX1 NODAL GNAS XRCC4 TRNS2 IL7R STUB1 GATA6 IGSF1 CHD7 SEMA3E DDOST NPHS1 SLC26A4 POMC DUOXA2 ALMS1 TRNS1 LIMK1 TSHB TSHB RAI1 RNASEH2B GNE STAT1 SRD5A3 FOXP3 FBLN5 AIRE TRH PDE4D SHH TPO HPD TPO IL2RA GPR161 HLA-DRB1 KAT6B FGFR1 COX1 PROP1 FDX2 TRHR ACP5 SAA1 SOX3 STAR MRAP DNAJC19 NKX2-5 ND1 SCN4A FOXE1 CHD7 ADAR TG TRNW SLC26A4 COX3 EFEMP2 RREB1 MEN1 RNASEH2C FOXE1 LHX4 TANGO2 NKX2-1 NKX2-5 RNASEH2A ADAMTSL1 ZBTB20 GCH1 NKX2-5 COX2 PAX8 FLII LIG4 DUOX2 RRM2B FMR1 RAG2 PLAA HBB ABCC6 BTNL2 SALL1 NIN ADA KCNAB2 DUOX2 CEP57 PROP1 CP TBX1 RMRP APC SLC5A5 PRKAR1A TSHR GATA1 TONSL SAMHD1 PHF21A FOXI1