SNPMiner Trials by Shray Alag


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Report for Mutation W64R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Effect of Nutritional Intervention and Olive Oil in Severe Obesity: Randomized Controlled Trial

Obesity is a worldwide epidemic with increasing prevalence, specially severe obesity (Body Mass Index (BMI) ≥ 35 kg/m2). It is a multifactorial disease that involves genetic and environmental factors that lead to increased mortality from cardiovascular disease, diabetes, cancer, among others and impairs life quality. Most research on severe obesity focuses on surgical alternatives and their results, thus this clinical trial aims to evaluate the effect of a non-pharmacological approach based on nutritional intervention and supplementation with a functional food, the olive oil. It will analyze the effectiveness of interventions on: weight loss, improvements on body composition and inflammatory profile (TNF-alfa, interleucins 1, 6 and 10, adiponectin), insulin resistance and serum lipids control, changing eating habits and physical activity practice, modification on bone mineral density and sarcopenia, and reduction of cardiovascular risk and other diseases. Also, it will be investigated the influence of polymorphisms (Pro12Ala of PPAR-γ gene, -174G>C of IL6 gene e Trp64Arg of ADRB3 gene) on nutritional intervention effectiveness with and without olive oil. This research looks for improving severely obese patient's care and contributing to effective results by reducing costs and risk treatment. The investigators believe that this informations will contribute significantly to the scientific field, expanding the knowledge about severe obesity.

NCT02463435 Severe Obesity Behavioral: Nutritional intervention Other: Nutritional intervention plus olive oil Dietary Supplement: Olive oil
MeSH: Obesity Obesity, Morbid
HPO: Obesity

Also, it will be investigated the influence of polymorphisms (Pro12Ala of PPAR-γ gene, -174G>C of IL6 gene e Trp64Arg of ADRB3 gene) on nutritional intervention effectiveness with and without olive oil. --- Pro12Ala --- --- Trp64Arg ---

Primary Outcomes

Description: Measurements of weight, arm circumference and Body Mass Index (BMI) will be evaluated to assess anthropometric change.

Measure: Anthropometric measurements change

Time: Baseline, week 12

Description: Body fat mass (BFM), body fat percentage (%BF) and body mass density (BMD) will be evaluated to assess body composition change. BFM and %BF will be assessed using multifrequency bioelectrical impedance analysis (BIA) and dual energy X-ray absorptiometry (DXA) and BMD will be assessed using DXA.

Measure: Body composition change

Time: Baseline, week 12

Secondary Outcomes

Description: TNF-alfa, interleucin 6 (IL6), IL1, IL10, adiponectin, C-reactive protein (CRP)

Measure: Change in inflammation parameters

Time: Baseline, week 12

Description: Lipid profile (total cholesterol, LDL-c, HDL-c, VLDL-c), insulin resistance (HOMA-IR, glycated hemoglobin), fasting glycaemia, hemogram

Measure: Change in metabolic parameters

Time: Baseline, week 12

Description: Creatinine, urea and uric acid

Measure: Change in kidney function

Time: Baseline, week 12

Description: AST and ALT

Measure: Change in liver function

Time: Baseline, week 12

Description: TSH, T4 and parathyroid hormone

Measure: Change in thyroid function

Time: Baseline, week 12

Description: Vitamin D, vitamin B12 and folic acid

Measure: Change in vitamins

Time: Baseline, week 12

Description: Iron, calcium, sodium, potassium and zinc

Measure: Change in minerals

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Global Risk Score (GRS)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Framingham Risk Score (FRS)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using heart rate variability (HRV)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Homocystein level

Time: Baseline, week 12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: Polymorphism Pro12Ala of Peroxisome Proliferator-Activated Receptor Alfa (PPAR-alfa)

Time: Baseline, week12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: PolymorphismTrp64Arg of Beta-3 Adrenergic Receptor (ADRB3) gene

Time: Baseline, week12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: Polymorphism -174G>C of Interleukin 6 (IL6) gene.

Time: Baseline, week12

Measure: Change in physical activity practice using Global Physical Activity Questionnaire

Time: Baseline, week 12

Measure: Change in physical activity practice using accelerometry

Time: Baseline, week 12

Measure: Change in food intake using Food Frequency Questionnaire

Time: Baseline, week 12

Measure: Change in food intake using 24 hour recall

Time: Baseline, week 12

Description: Change in the following variables: bone density using DXA, falls and fractures and sun exposure

Measure: Change in bone health parameters

Time: Baseline, week 12

Measure: Change in obesity sarcopenia using muscle mass (evaluated using DXA)

Time: Baseline, week 12

Measure: Change in obesity sarcopenia using handgrip strength

Time: Baseline, week 12

Measure: Change in sarcopenia using usual gait speed

Time: Baseline, week 12

Description: It will be evaluated through changes in food consumption (food frequency questionnaire)

Measure: Adherence to nutritional intervention

Time: Baseline, week 12

Description: It will be evaluated through attendance to the clinic visits

Measure: Adherence to the health service

Time: Baseline, week 12

Measure: Change in symptoms of anxiety and depression using Hospital Anxiety and Depression Scale

Time: Baseline, week 12

Measure: Change in symptoms of binge eating disorderusing Binge Eating Disorder Scale

Time: Baseline, week 12

Measure: Change in musculoskeletal pain using Visual Analog Scale

Time: Baseline, week 12

Measure: Change in musculoskeletal pain using Nordic Musculoskeletal Questionnaire

Time: Baseline, week 12


HPO Nodes


Obesity
Genes 465
PDE6A IDH3A ALG13 CANT1 PRKAR1A WDR34 PCARE EIF2S3 RP1 CTSH RAI1 LZTFL1 MTFMT TTC8 PPARG ANOS1 IQSEC2 IQSEC2 C8ORF37 TMEM67 RNPC3 MKRN3 FLRT3 MYT1L SNRNP200 BBS4 IFT172 CEP19 PROKR2 EMD EYS SLC25A4 LEPR KIDINS220 THOC2 PCSK1 PRPF4 ARL6 USP9X RDH12 IGF1 IFT172 ARL3 SOX10 PDE11A FGFR3 NR2E3 CUL4B RAB23 PAX6 ARL2BP DYRK1B GNAS PRPF31 PNPLA6 PRCD RLBP1 FTO KLF11 TBX1 BLK INPP5E HIRA CYP7A1 TMEM43 DHDDS BBS5 MLXIPL LEP CLIP2 WNT4 IFT140 RP2 REEP6 EP300 FHL1 PDE4D SH2B1 CNGA1 CNNM2 PAK3 TNFSF4 IQSEC2 SDCCAG8 MOG TRAPPC9 SDC3 HLA-DQB1 TBL2 POMC ALMS1 PTCHD1 PRPH2 PSMD12 SH3KBP1 SNORD115-1 HSD11B1 ARVCF PRPF8 POMC GUCA1B ATRX SEC24C POMGNT1 ZNF365 SUFU ARMC5 CLCN4 HACE1 RBMX KIAA1549 SLC9A7 SH2B1 IFT27 GNAS EIF2S3 JMJD1C FGF17 COMT MKS1 ZNF81 HERC2 SKI CYP19A1 MKKS SOX2 SLC7A7 GTF2I AKT2 MID2 SIM1 SMARCB1 DNMT3A ENPP1 PRPF6 ZNF408 PRDM16 FGFR1 PROM1 ERMARD BBS10 AIP NPAP1 BEST1 GATA4 BBS1 TUB P4HTM TBX3 KMT2A BBS7 GABRD GP1BB WDR11 RP9 GNAS XRCC4 PAX6 SDCCAG8 RBP3 ADRB3 GNAS PAX4 NSMF NPHP1 RAI1 ATP6AP2 GNAS-AS1 USP8 MAK KCNJ18 CCDC141 IMPDH1 PDSS1 NIPBL ADNP DPYD SETD2 NR0B2 MED12 NDN FAM161A HESX1 NRL BBS10 GHRL DUSP6 LAS1L MKKS P2RY11 BBS5 MEGF8 ZNF711 RREB1 H6PD HESX1 SIN3A CNKSR2 KIDINS220 BBS12 FRMPD4 IFT74 TRIM32 BLK AFF4 POGZ ALB GABRA3 TSPAN7 SLC10A7 SYNE2 CREBBP GNAS RPS6KA3 OFD1 IFT172 APC2 PRKAR1A RPGR BBS9 SNORD116-1 IL1RAPL1 OTX2 NSD1 HACE1 PCSK1 FGFR1 SETD2 BAZ1B EHMT1 ZNF41 INS PROK2 POU3F4 IFT88 PDE6B GNAS ABCC8 RGR ARL13B KMT2D GHR GNAS NEK2 RFC2 CA4 LIPE RERE MAPK8IP3 RHO SCAPER BPTF RAP1A DLG3 BBS9 PCNT LEP IGFALS CRB1 RPS6KA3 TBX1 NEUROD1 CEP164 GTF2IRD1 SIM1 MECP2 ARX SMC3 PHIP TRIP12 CARTPT NTRK2 HDAC8 AGTR2 SEMA3A BRAF AHR PWRN1 OFD1 SETD5 ADNP LZTFL1 PROK2 KISS1R CEP290 HS6ST1 CDHR1 DEAF1 MAN1B1 RAP1B CTNNB1 USP8 BBS2 GCK UPF3B ELN MAN1B1 PTEN TRIM32 MKS1 ROM1 BBS2 LEPR KCNJ11 MRAP2 PRPF3 PDGFB LRAT TRAF3IP1 HDAC8 SPRY4 ELN SRY FEZF1 VPS13B TACR3 KIF7 TAF1 RAB23 FOXP1 HDAC8 CERKL CLRN1 AGRP BBS2 MOG TOPORS ARNT2 ARHGEF6 FMR1 USP27X SHANK3 XYLT1 VPS13B SMAD4 UFD1 EGF UCP3 BBS12 IFT172 SNRPN CACNA1S USH2A HNF1A ACADVL ADRB2 MEGF8 C8ORF37 APOE WDPCP IGF1R CCDC141 NIN IPW MAGEL2 GDI1 NF2 HGSNAT ARL6 HUWE1 SEMA4A EHMT1 SYP IDH3B PRMT7 CEP290 PCNT SH2B1 HDAC4 ADCY3 TTC8 CHD7 AKT2 ABCA4 LMNA HCRT MC4R DMD ZNF513 CRX SYNE1 XYLT1 BDNF TBX3 MC3R KLHL7 DCC SPG11 TTC8 POMC ALMS1 FTSJ1 PDX1 KDM6A LIMK1 BBIP1 BBS7 RPE65 CCDC28B EXOC6B BBIP1 AHI1 ARMC5 AGBL5 PDE4D TULP1 SMC1A DHX38 CEL ARL6 MAGEL2 PROKR2 HLA-DRB1 MKRN3-AS1 SHOX RAD21 IMPG2 ZNF711 C8ORF37 IFT27 PWAR1 PNKP FGF8 HNF4A CDH23 BBS1 WT1 GNAS MTTP ZBTB20 KIZ APPL1 FLII IL17RD SPATA7 MERTK TCF20 MECP2 CXORF56 LMNA BBS4 SLC7A14 SOX3 MC4R LAS1L KCNAB2 CUL4B PDE6G ARHGEF18 SAG RAB39B STX16 UBE3A ACSL4 TBX1 MCM3AP TUB ATRX FSCN2 PHF6 TRAPPC9 PHF6 WT1 CNGB1 HCFC1