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Report for Mutation R230C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Effect of the R230C Variant of the ATP-binding Cassette Transporter A1 (ABCA1) Gene on the Response to Treatment With Glibenclamide in Patients With Type 2 Diabetes Mellitus

The objective of the study is to know if the R230C and C230C variants of the ATP-binding cassette transporter A1 (ABCA1) gene are associated with a smaller glucose lowering effect compared to the wild type allele (R230R) in patients with type 2 diabetes.

NCT01456650 Type 2 Diabetes Drug: Glyburide
MeSH: Diabetes Mellitus, Type 2
HPO: Type II diabetes mellitus

Effect of the R230C Variant of the ATP-binding Cassette Transporter A1 (ABCA1) Gene on the Response to Treatment With Glibenclamide in Patients With Type 2 Diabetes Mellitus. --- R230C ---

R230C and C230C Variants of ABCA1 and Glyburide Response The objective of the study is to know if the R230C and C230C variants of the ATP-binding cassette transporter A1 (ABCA1) gene are associated with a smaller glucose lowering effect compared to the wild type allele (R230R) in patients with type 2 diabetes. --- R230C ---

R230C and C230C Variants of ABCA1 and Glyburide Response The objective of the study is to know if the R230C and C230C variants of the ATP-binding cassette transporter A1 (ABCA1) gene are associated with a smaller glucose lowering effect compared to the wild type allele (R230R) in patients with type 2 diabetes. --- R230C --- --- R230C ---

In patients with type 2 diabetes stratified by the existence of the risk alleles (R230C/C230C) or the wild variant (R230R) of ABC-A1, compare the changes resulting from the treatment with glibenclamide on following continuous variables: - Fasting glucose - Percentage reduction - Hemoglobin A1c, - Cholesterol, triglycerides, HDL cholesterol, LDL cholesterol - Weight 2. In patients with type 2 diabetes stratified by the existence of the risk alleles (R230C/C230C) or the wild variant (R230R) of ABC-A1, compare the changes resulting from the treatment with glibenclamide on following binomial variables: - Number of cases that reach fasting plasma glucose lower than 110 mg/dl - Number of cases that reach an HbA1c less than 7% --- R230C ---

In patients with type 2 diabetes stratified by the existence of the risk alleles (R230C/C230C) or the wild variant (R230R) of ABC-A1, compare the changes resulting from the treatment with glibenclamide on following continuous variables: - Fasting glucose - Percentage reduction - Hemoglobin A1c, - Cholesterol, triglycerides, HDL cholesterol, LDL cholesterol - Weight 2. In patients with type 2 diabetes stratified by the existence of the risk alleles (R230C/C230C) or the wild variant (R230R) of ABC-A1, compare the changes resulting from the treatment with glibenclamide on following binomial variables: - Number of cases that reach fasting plasma glucose lower than 110 mg/dl - Number of cases that reach an HbA1c less than 7% --- R230C --- --- R230C ---

Primary Outcomes

Description: The effects of the alleles under study on the glucose lowering effect of glyburide will be assessed in 20 week study. Diet and exercise will be controlled per protocol

Measure: Change in plasma fasting glucose

Time: 20 weeks

Secondary Outcomes

Measure: HbA1c levels

Time: 20 weeks


HPO Nodes


Type II diabetes mellitus
Genes 182
SNRPN USH2A PDE6A IDH3A LIPC SNORD116-1 GTF2I GCGR C8ORF37 BAZ1B PCARE TRNH RP1 PRPF6 LMNA IPW IFT88 PDE6B ZNF408 ABCC8 RGR TTC8 PROM1 PDX1 AR ND4 NPAP1 HGSNAT NEK2 RFC2 CA4 KLF11 SEMA4A BEST1 TRNL1 RHO IDH3B MKRN3 SCAPER PPARG PCNT PEX10 TUB XRCC4 SNRNP200 SLC2A2 CEP19 CRB1 ABCA4 EYS MAPK8IP1 TRNQ TCF7L2 POLR3A RP9 GTF2IRD1 TRNE FBN1 PRPF4 AKT2 ZNF513 ARL6 TRNS2 RDH12 CRX STUB1 ARL3 NEUROD1 KLHL7 RBP3 SPINK1 NR2E3 ALMS1 TRNS1 KCNJ11 LIMK1 INSR HNF1A ARL2BP BRAF RPE65 AHR PWRN1 GLRX5 PRPF31 MAK PNPLA6 PRCD RLBP1 HNF1B AHI1 IMPDH1 TRNK AGBL5 TRNL1 TULP1 DHX38 GPD2 HMGA1 ATM NDN COX1 FAM161A NRL DHDDS CDHR1 MAGEL2 MKRN3-AS1 CLIP2 CTNNB1 AIP TRNF SLC12A3 IFT140 SLC30A8 RP2 POLA1 ND1 REEP6 IMPG2 ELN PWAR1 LIG4 RETN BLM PDX1 CNGA1 TRNW COX3 IRS1 INSR ROM1 BBS2 PRPF3 GCK KIZ TBL2 COX2 WFS1 GCK PRPH2 LRAT ABCC8 SNORD115-1 PRPF8 SPATA7 ENPP1 GUCA1B MEN1 IRS2 MERTK POMGNT1 HNF4A WRN ND6 HNF1A PTPN1 PPP1R3A CERKL CLRN1 PAX4 SLC7A14 KIAA1549 MC4R IGF2BP2 PDE6G ARHGEF18 SAG MOG AMACR TOPORS MTNR1B CLCNKB ND5 PLCD1 OFD1 FSCN2 IFT172 HERC2 CYP19A1 RPGR CNGB1