SNPMiner Trials by Shray Alag


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Report for SNP rs11548193

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Effect of Dietary Protein and Energy Restriction in the Improvement of Insulin Resistance in Subjects With Obesity

The prevention of obesity and its main medical complications, such as hypertension, type 2 diabetes and cardiovascular diseases, have been become a health priority. One of the most frequent metabolic complications in obesity is the insulin resistance and is the most important risk factor for the development of coronary diseases. The weight loss induced by the restriction of dietary energy is the cornerstone of therapy for people with obesity, as it improves or even regularizes insulin sensitivity and related comorbidities. However, weight loss induced by diet also decreases lean tissue mass, which could result in adverse effects on physical function. Although, regularly recommended to increase protein intake during weight loss, there is evidence to suggest that high protein intake could have deleterious metabolic effects. On the other hand, there is an association between the type of protein consumption, mainly the concentration of branched-chain amino acids (BCAAs) and insulin resistance during the dietary energy restriction in the therapy of obesity. There are multiple factors that influence the concentration of BCAAs and insulin resistance, which can be by phenotypic or genetic modification. The phenotypic modification refers to race, sex and dietary pattern. Meanwhile, the genetic modification refers to the activity of the enzymes responsible for the catabolism of BCAAs and genetic variants, such as the polymorphisms of a single nucleotide of said enzymes. A randomized controlled trial will be conducted with 160 participants (80 women and 80 men) divided by a draw in 4 groups, each for 20 participants. A feeding plan will be assigned according to the distribution of proteins (standard or high) and type of protein (animal or vegetable). The main aim of this study is to evaluate the effect on the amount and type of dietary protein and energy restriction on insulin resistance in subjects with obesity in a period of 1 month, considering the main factors that influence the concentration of BCAAs. In this way, evidence will be provided on what type of dietary intervention is most convenient for weight loss in subjects with insulin resistance and obesity.

NCT03627104 Obesity Insulin Resistance Dietary Supplement: Normoprotein diet with animal protein Dietary Supplement: Normoprotein diet with vegetable protein Dietary Supplement: High-protein diet with animal protein Dietary Supplement: High-protein diet with vegetable protein
MeSH:Obesity Insulin Resistance
HPO:Insulin resistance Obesity

Change of the HOMA index according to the presence or absence of polymorphism related to the metabolism of branched chain amino acids (rs11548193 and rs45500792).. HOMA (IR-HOMA) which is calculated glucose (mg / dl) x insulin (mUI / ml) / 405 before and after of dietary intervention.

Primary Outcomes

Description: Change in the index HOMA-IR. The HOMA IR index will be calculated by the following equation: glucose (mg / dl) x insulin (mUI / ml) / 405 before and after of dietary intervention

Measure: Resistance insulin

Time: Baseline to 1-month

Secondary Outcomes

Description: Change in the concentration of the amino acid profile, mainly of branched chain amino acids

Measure: Amino acid profile

Time: Baseline to 1-month

Description: Change in fat mass, lean mass and skeletal muscle mass percentage

Measure: Change in body composition

Time: Baseline to 1-month

Description: change in body weight before and after of dietary intervention

Measure: Change in body weight

Time: Baseline to 1-month

Description: Change in waist circumference before and after of dietary intervention

Measure: Change in waist circumference

Time: Baseline to 1-month

Description: Change in grip strength before and after the intervention by dynamometry

Measure: Change in grip strength

Time: Baseline to 1-month

Description: The respiratory coefficient will be determined by indirect calorimetry

Measure: Change in respiratory quotient

Time: Baseline to 1-month

Description: The concentration of serum glucose will be determined by autoanalyzer before and after the intervention

Measure: Change in glucose serum

Time: Baseline to 1-month

Description: The concentration of serum total cholesterol will be determined by autoanalyzer before and after the intervention

Measure: Change in total cholesterol serum

Time: Baseline to 1-month

Description: The concentration of serum HDL-cholesterol will be determined by autoanalyzer before and after the intervention

Measure: Change in HDL cholesterol serum

Time: Baseline to 1-month

Description: The concentration of serum triglycerides will be determined by autoanalyzer before and after the intervention

Measure: Change in triglycerides serum

Time: Baseline to 1-month

Description: The concentration of serum LDL cholesterol will be determined by autoanalyzer before and after the intervention

Measure: Change in LDL cholesterol serum

Time: Baseline to 1-month

Description: The concentration of free fatty acids will be determined before and after the intervention

Measure: Change in free fatty acids serum

Time: Baseline to 1-month

Description: The concentration of serum liver enzymes will be determined by autoanalyzer before and after the intervention

Measure: Change liver function tests

Time: Baseline to 1-month

Description: The concentration of serum leptin will be determined by ELISA kit before and after the intervention

Measure: Change in concentration of leptin serum

Time: Baseline to 1-month

Description: The concentration of serum adiponectin will be determined by ELISA kit before and after the intervention

Measure: Change in concentration of adiponectin serum

Time: Baseline to 1-month

Description: The concentration of serum C- reactive protein will be determined by autoanalyzer before and after the intervention

Measure: Change in the concentration of C-reactive protein

Time: Baseline to 1-month

Description: the blod pressure will be determined before and after the intervention

Measure: Change in systolic and diastolic blood pressure

Time: Baseline to 1-month

Description: HOMA (IR-HOMA) which is calculated glucose (mg / dl) x insulin (mUI / ml) / 405 before and after of dietary intervention

Measure: Change of the HOMA index according to the presence or absence of polymorphism related to the metabolism of branched chain amino acids (rs11548193 and rs45500792).

Time: Baseline to 1- month


HPO Nodes


HP:0001513: Obesity
Genes 469
MID2 LMNA PDE11A BBS10 HGSNAT ABCC8 GABRA3 RP1 ADRB2 AKT2 CXORF56 OFD1 APPL1 TRIP12 LAS1L CCDC141 CARTPT CHD7 MAK TACR3 FEZF1 IFT172 BEST1 XRCC4 FSCN2 GABRD PWRN1 ADCY3 CRX SETD5 BBS2 CRB1 FGF17 IGF1R HESX1 MTTP SLC25A4 CCDC141 SOX10 RP9 HCFC1 CTSH PDE4D LMNA USP9X CUL4B HDAC8 GNAS PDE4D SUFU TSPAN7 TBX1 PRPF4 TUB TUB RHO KISS1R MAPK8IP3 KMT2A PRMT7 SETD2 INS AIP VPS13B DNMT3A RAP1B SAG TRAPPC9 SIM1 MED12 SDCCAG8 CEP164 USH2A UFD1 PNKP PRPF6 LIPE PHIP IL1RAPL1 CNGA1 IFT74 FHL1 MERTK PHF6 PROK2 PDSS1 ARHGEF18 SH2B1 IDH3B FGFR3 PRPF3 SLC7A14 PAX4 JMJD1C DPYD MAN1B1 NR0B2 WT1 SNORD116-1 FMR1 IPW KCNJ18 NSD1 ATP6AP2 ACSL4 P2RY11 MC3R ALMS1 RAB23 PROK2 FGFR1 PCNT NTRK2 CTNNB1 STX16 DYRK1B HDAC8 SCAPER PRCD SEC24C PROKR2 SYNE1 SMC1A PCARE AKT2 TNFSF4 FGF8 DHDDS ALB ADRB3 SYNE2 MYT1L LEPR BBS12 ZNF513 NIN ADNP LEP ARMC5 IQSEC2 PPARG GUCA1B POMC BBIP1 THOC2 UPF3B PAK3 HACE1 SNORD115-1 BBS1 MOG SYP COMT GNAS-AS1 MKKS GNAS WNT4 SDCCAG8 ROM1 C8ORF37 PDE6B ZNF41 GHRL IFT172 GATA4 PDE6G ELN RAB23 AGTR2 TBX1 HS6ST1 RGR FGFR1 ACADVL EMD PTEN PROM1 PSMD12 SEMA4A ARL6 MEGF8 RAI1 ABCA4 MAGEL2 DMD ELN TULP1 DCC PAX6 UCP3 CUL4B REEP6 ZNF711 RREB1 SRY PDGFB DHX38 DEAF1 HDAC8 NPHP1 RP2 RLBP1 RNPC3 C8ORF37 GP1BB AGRP SETD2 RFC2 PHF6 MC4R FRMPD4 IGF1 USP8 EP300 HLA-DQB1 ARL3 IFT88 CEL ZNF81 OFD1 MKRN3-AS1 LAS1L BBS7 BBS2 RDH12 PRDM16 MKS1 HACE1 SMC3 IDH3A PIGT SHOX BBS9 IFT172 ARHGEF6 SKI CEP290 PRMT7 PDE4D CYP19A1 POMGNT1 KCNAB2 SIN3A H6PD KDM6A IFT27 LIMK1 TBL2 LZTFL1 BLK PNPLA6 USP8 ARL6 ARL2BP HLA-DRB1 IMPG2 XYLT1 BDNF ZBTB20 RBP3 POMC KIZ SH3KBP1 ARMC5 PRPF8 TOPORS BBS4 RERE AFF4 RPGR SLC9A7 SOX2 ALG13 HERC2 MRAP2 GNAS HUWE1 EIF2S3 TRAPPC9 POU3F4 FAM161A LEPR ARNT2 HIRA BBS9 GNAS DUSP6 MCM3AP RAI1 AFF4 MECP2 FOXP1 IQSEC2 BBS10 CEP19 SH2B1 SHANK3 RAD21 GDI1 BBS1 SMARCB1 SIM1 TRIM32 RAP1A WDR11 CLIP2 WT1 SPRY4 CACNA1S NIPBL NR2E3 MKKS KIF7 KIAA1549 GHR ANOS1 KLHL7 CNKSR2 CNGB1 HCRT GCK MC4R CEP290 EHMT1 AGBL5 TAF1 ZNF365 PROKR2 CA4 HNF1A BBS12 CLCN4 POMC MTFMT EYS NEK2 TMEM67 PCSK1 RPS6KA3 MAGEL2 CERKL GNAS EHMT1 ADNP MKS1 SDC3 FLII TTC8 MKRN3 BRAF NSMF TMEM43 MOG ENPP1 DLG3 CCDC28B BBS7 SLC10A7 SLC7A7 EXOC6B RBMX CDH23 IFT27 NDN SMAD4 IQSEC2 TRIM32 ZNF408 HESX1 TCF20 ATRX CANT1 GNAS EGF ALMS1 ARL6 GNAS FLRT3 BBS2 CDHR1 PRPF31 BBIP1 PRKAR1A IGFALS SEMA3A PAX6 PCNT ARVCF GTF2I FTSJ1 LRAT P4HTM PRKAR1A FTO ARL13B KCNJ11 PRPH2 APC2 IFT172 CLRN1 KMT2D LZTFL1 NRL PDE6A APOE TBX1 BBS4 INPP5E PCSK1 KIDINS220 PTCHD1 MLXIPL USP27X HDAC4 TBX3 MEGF8 TTC8 SNRPN TRAF3IP1 PWAR1 RPE65 ATRX PDX1 TBX3 TTC8 IL17RD POGZ ARX AHI1 MAN1B1 BLK CYP7A1 SPATA7 NPAP1 BBS5 EIF2S3 BAZ1B SNRNP200 AHR NEUROD1 WDPCP XYLT1 VPS13B BBS5 ZNF711 GNAS OTX2 ERMARD KIDINS220 SOX3 HNF4A IMPDH1 IFT140 KLF11 RAB39B BPTF HSD11B1 SPG11 RPS6KA3 NF2 MECP2 LEP WDR34 UBE3A CNNM2 C8ORF37 GTF2IRD1 CREBBP SH2B1
Protein Mutations 3
G20210A P12A W64R