SNPMiner Trials by Shray Alag

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Report for Mutation G212A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Serum Apelin Levels and G212A Polymorphism of Apelin Receptor (APJ)in Obese Children and Adolescents.

The aim of this study is to investigate serum apelin levels as well as their possible association with G212A polymorphism of the apelin receptor in obese children and adolescents. So far apelin has been reported to be involved in the pathophysiology of various heart diseases such as cardiomyopathies and heart failure. According to recent reports in adults apelin seems to be associated with impaired glucose metabolism, particularly in newly diagnosed diabetes type 2 patients. Obesity is associated with insulin resistance and compensatory hyperinsulinemia leading to diabetes mellitus type 2 even in youngsters. The researchers will try to investigate the role of this new adipokine in order to early detect and to prevent similar entities in childhood obesity.

NCT01121172 Obesity Insulin Resistance Diabetes Mellitus Type 2
MeSH:Insulin Resistance Diabetes Mellitus, Type 2
HPO:Insulin resistance Type II diabetes mellitus

Serum Apelin Levels and G212A Polymorphism of Apelin Receptor (APJ)in Obese Children and Adolescents.. Apelin Levels and G212A Polymorphism of Apelin Receptor (APJ) The aim of this study is to investigate serum apelin levels as well as their possible association with G212A polymorphism of the apelin receptor in obese children and adolescents. --- G212A ---

Serum Apelin Levels and G212A Polymorphism of Apelin Receptor (APJ)in Obese Children and Adolescents.. Apelin Levels and G212A Polymorphism of Apelin Receptor (APJ) The aim of this study is to investigate serum apelin levels as well as their possible association with G212A polymorphism of the apelin receptor in obese children and adolescents. --- G212A --- --- G212A ---

Serum Apelin Levels and G212A Polymorphism of Apelin Receptor (APJ)in Obese Children and Adolescents.. Apelin Levels and G212A Polymorphism of Apelin Receptor (APJ) The aim of this study is to investigate serum apelin levels as well as their possible association with G212A polymorphism of the apelin receptor in obese children and adolescents. --- G212A --- --- G212A --- --- G212A ---

Frequency of G212A Polymorphism of Apelin Receptor in Obese Children and Adolescents. --- G212A ---

Number of participants with Apelin Receptor Gene G212A polymorphism by genotype group. --- G212A ---

Primary Outcomes

Description: Apelin levels were measured in serum of participants, in fasting state

Measure: Serum Apelin Levels

Time: First day after enrollment and after 8-hours of night fasting, at approximately 8:00 pm in the morning

Secondary Outcomes

Description: Number of participants with Apelin Receptor Gene G212A polymorphism by genotype group

Measure: Frequency of G212A Polymorphism of Apelin Receptor in Obese Children and Adolescents

Time: First day after enrollment

HPO Nodes

HP:0000855: Insulin resistance
Genes 124
IGF2BP2 PLIN1 CAV1 ABCC8 PDX1 BSCL2 SLC2A2 INSR PDX1 ABCC8 HYMAI ADCY3 EIF2AK3 KLF11 PAX4 ABCC8 ZMPSTE24 ABCC8 PPARG XRCC4 ALMS1 PTPN1 KCNJ11 LMNA CLCNKB WFS1 LMNA INSR HMGA1 GCK KCNJ11 LIPE STAT3 ZFP57 PPP1R3A PAX4 CAV1 HSD3B2 INSR TCF7L2 HNF1A LMNA DBH NEUROD1 AKT2 AKT2 DMPK LEP BLK LMNA LMNA MTNR1B LIPE PTF1A LMNA PIK3R1 NEUROD1 IRS2 INS CYP19A1 XRCC4 APPL1 BSCL2 LEPR ALMS1 CIDEC PAX4 LMNA HSD11B1 INSR ZFP57 WRN KCNJ11 GATA6 KCNJ11 POLD1 PLAGL1 LMNB2 PLAGL1 PDX1 HNF1A INS LMNA IGF1 CEP19 CAV1 CEL PIK3R1 HNF4A AGPAT2 RETN ENPP1 KCNJ11 LIPC NSMCE2 CAVIN1 GPD2 MFN2 PPARG BSCL2 FOS ZMPSTE24 EIF2AK3 HYMAI IRS1 HNF4A HYMAI GCK PPARG ZMPSTE24 DCAF17 HNF1B GCK AGPAT2 PDX1 IGFALS ABCC8 SLC30A8 PMM2 NSMCE2 MAPK8IP1 PPARG CAVIN1 SLC12A3
Protein Mutations 11
A227G A277G C282Y E167K E298D G20210A G212A G276T H63D I148M P12A
SNP 8
rs10830963 rs11548193 rs1801282 rs3211938 rs45500792 rs78408340 rs926198 rs9939609
HP:0005978: Type II diabetes mellitus
Genes 182
MKRN3-AS1 IGF2BP2 ABCC8 CNGA1 LIMK1 DHDDS RFC2 SLC2A2 AMACR PCNT EYS PDX1 KIZ MEN1 SPINK1 REEP6 RGR PRPF6 GTF2I XRCC4 KIAA1549 PRPF8 DHX38 LIG4 IDH3A ABCC8 ELN TRNF PTPN1 GUCA1B NEK2 PDE6G CTNNB1 CLCNKB SNRPN WFS1 PWAR1 MAK HMGA1 CLIP2 RHO BBS2 KCNJ11 ATM RP9 PPP1R3A DMXL2 PAX4 TOPORS TCF7L2 KLHL7 HNF1A IDH3B RDH12 ZNF408 SCAPER ABCA4 RLBP1 C8ORF37 BRAF AKT2 ND1 ND4 ARL2BP PLCD1 PDE6B GCK CERKL NRL COX1 TRNE HNF1A MTNR1B AIP TRNW NPAP1 MKRN3 TRNQ ND5 LMNA TRNK PROM1 NEUROD1 IRS2 PRPF3 USH2A RP2 SPATA7 MOG ND6 IMPDH1 BLM CYP19A1 IFT172 SLC7A14 ALMS1 PRCD SNORD116-1 CAT TRNL1 PNPLA6 FAM161A RPE65 FBN1 AGBL5 WRN PRPH2 ROM1 TBL2 COX3 PRPF4 PDX1 CA4 TUB CEP19 RPGR TTC8 SEMA4A POLR3A ARL3 BEST1 LRAT NR2E3 CRX TULP1 SNRNP200 IFT88 POLA1 PWRN1 NDN PCARE AR INSR FSCN2 RETN COX2 STUB1 MC4R ENPP1 MERTK RBP3 CNGB1 LIPC ZNF513 BAZ1B TRNS2 GPD2 PPARG AHI1 HGSNAT IMPG2 IFT140 POMGNT1 KLF11 IRS1 HNF4A IPW GCK SAG PRPF31 HNF1B HERC2 PEX10 GLRX5 OFD1 SLC30A8 ARHGEF18 TRNS1 MAGEL2 RP1 MAPK8IP1 ARL6 GTF2IRD1 TRNL1 CLRN1 AHR SLC12A3 TRNH PDE6A CDHR1 SNORD115-1 CRB1
Protein Mutations 12
A54T E158K E23K G174S G212A G401S G465R I349V K121Q P12A R230C R61C
SNP 9
rs10401969 rs13266634 rs2266782 rs2854275 rs35652124 rs780094 rs780094s rs78408340 rs7903146