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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G1321A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Association of Uremic Toxins and Sacropenia in Hemodialysis Patients

Background. In advanced chronic kidney disease (CKD), multiple metabolic and nutritional abnormalities may contribute to the impairment of skeletal muscle mass and function thus predisposing patients to the condition of sarcopenia. Herein, we aim to investigate the association of uremic toxins and sacropenia. In addition, the prevalence and mortality predictive power of sarcopenia, defined by different methods, in a cohort of hemodialysis patients. Methods. We plan to evaluate 300 HD patients. Sarcopenia was defined as reduced muscle function assessed by handgrip strength (HGS <30th percentile of a population-based reference adjusted for sex and age) plus diminished muscle mass assessed by different methods: (i) midarm muscle circumference (MAMC) <90% of reference value (A), (ii) muscle wasting by DEXA (B) and (iii) reduced skeletal muscle mass index (<10.76 kg/m² men; <6.76 kg/m² women) estimated by bioelectrical impedance analysis (BIA) (C). Serum levels of 3 established uremic toxins such as indoxyl sulfate, p-cresol and hippuric acid will be measured. Besides, various relevant inflammatory markers will also be assessed. Patients will be followed for up to 3 years for all-cause mortality.

NCT03060590
Conditions
  1. Sarcopenia
MeSH:Sarcopenia

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A and Agilent 1100 Series UV-Visible detectors G1314A. --- G1321A ---

Primary Outcomes

Description: To evaluate the association of sacropenia defined according to 1. Low muscle mass 2. Low muscle strength 3. Low physical performance and serum levels of some uremic toxins such as indoxyl sulfate, p-cresol and hippuric acid will be measured.

Measure: Presence of Sarcopenia

Time: 3 years

2 Association of Uremic Sarcopenia and Mitochondrial Copy Number and Its Clinical Correlates in Taiwanese Hemodialysis Patients

Sarcopenia is the decline of muscle mass and strength with age. Evidence suggests that oxidative stress and molecular inflammation play important roles in age-related muscle atrophy. The two factors may interfere with the balance between protein synthesis and breakdown, cause mitochondrial dysfunction, and induce apoptosis. Sarcopenia, inflammation and oxidative stress is highly prevalent in hemodialysis patients and may contribute to mortality. The copy number of mitochondrial DNA (mtDNA) is affected by oxidative stress in blood circulation. This study aimed to test whether mtDNA copy number correlates with oxidative stress and some uremic toxins in nondiabetic hemodialysis(HD) patients. 200 nondiabetic hemodialysis patients and 50 healthy subjects will be enrolled. This study will be performed to investigate quantitative changes in mtDNA occur in HD patients with and without sarcopenia. Copy number of mtDNA in leukocyte DNA is determined by real-time polymerase chain reaction in HD patients and 50 age- and sex-matched control subjects. In addition, correlation of the alterations of albumin redox status, 8-isoprostane, plasma IL-6 ,LBP and TNF-a and as well as various uremic toxins will be performed.

NCT03929458
Conditions
  1. Sarcopenia
  2. Mitochondrial DNA
MeSH:Sarc Sarcopenia

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A. --- G1321A ---

Primary Outcomes

Description: The copy number of the mtDNA and the nDNA is calculated using the threshold cycle number (Ct) and intrapolating from the standard curve. The ratio of the copy number of mtDNA to the copy number of nDNA is measurement of mtDNA content.

Measure: Determination of mtDNA/nDNA Ratio as a measure of mtDNA Content

Time: 1 years

Secondary Outcomes

Description: ndoxyl sulfate (IS) and para-cresol (p-cresol) belong to the group of protein-bound uremic toxins that are poorly cleared by dialysis and are associated with poor clinical outcomes.the group of protein-bound uremic toxins that are poorly cleared by dialysis and are associated with poor clinical outcomes.

Measure: Plasma uremic toxins analysis

Time: 1 years

Description: Total 8-iso-PGF2-alpha concentrations in plasma were measured by a specific enzyme immunoassay (EIA) kit

Measure: Total of 8-iso-PGF2-alpha Analysis

Time: 1 years

Description: The IL-6 was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of IL-6

Time: 1 years

Description: The TNF-α was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of TNF-α

Time: 1 years

Description: The LBP was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of Liposaccharide-binding protein (LBP)

Time: 1 years

Description: the fractions of HMA, HNA-1, and HNA-2 to total HSA were measured using HPLC

Measure: Measurement of the Albumin Redox State

Time: 1 years

3 Constipation, Gut Microbiome, and Microbial-derived Uremic Toxins From the Gut Microbiota in HD Patients Is There a Relationship Between Them ?

Chronic constipation is a prevalent, multifactorial gastrointestinal disorder, and its etiology and pathophysiology remain poorly understood. Recently studies using 16S rRNA-based microbiota profiling have demonstrated dysbiosis of gut microbiota in chronic constipation. In addition, alterations of fecal flora of the a group of severely constipated patients had been reported. Constipation, an indicator of gut dysbiosis in dialysis patients, may also pose a greater burden in dialysis patients. Some recent findings highlight the plausible link between the gut and the kidneys and provide additional insights into the pathogenesis of kidney disease progression and development of cardiovascular disease. Yet, the constipation in dialysis patients is usually ignored and not even draw the attention of dialysis physician as an ominous risk factor of constipated dialysis patients. In view of multiple factors link the gut and cardiorenal pathophysiology, and the scarcity of literature on this issue, the aim of this study is want to know if constipation can result in any changes to the intestinal microbiota and is it associated with inflammation, atherogenic profile and levels of microbial derived uremic toxins. Here, the investigators use both self-reported Bristol stool form scale (BSFS) scores and Roman IV criteria to diagnose constipation and 16S rDNA Illumina amplicon profiles of faecal samples of 90 dialysis patients to assess potential associations between microbiota composition and constipation. The relationship between uremic toxins and inflammation will also be explored in the dialysis suffering from constipation.

NCT04309019
Conditions
  1. Constipation
  2. Inflammation
MeSH:Inflammation Constipation
HPO:Colonic inertia Constipation

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A and Agilent 1100 Series UV-Visible detectors G1314A. --- G1321A ---

Primary Outcomes

Description: gut microbiota composition have been associated with increased production of indoxyl sulfate and p-cresyl sulfate, which is directly associated with endothelial dysfunction, inflammation and oxidative stress, and increases in the incidence of CVD and mortality.

Measure: Serum uremic toxins such as indoxyl sulfate, p-cresol and IAA analysis

Time: 1 years

Secondary Outcomes

Description: 16S rDNA Illumina amplicon profiles of faecal samples to assess potential associations between microbiota composition and constipation.

Measure: Stool DNA Isolation and 16S rRNA Gene Amplicon Sequencing

Time: 1 years


HPO Nodes


HP:0002019: Constipation
Genes 478
ZIC2 TRIO POGZ CAMTA1 TRNL1 NRXN1 NODAL COL5A1 DNAJC13 POLG LIMK1 PRNP EXT2 COL7A1 VANGL1 SIX3 SDHC TSHR GP1BB SNCA LAMA3 HFE MAPT MLXIPL SALL1 PAX8 AVPR2 SEC24C TTR CAMK2B HNRNPK ATXN2 THRA UBE3A SCNN1A NKX2-5 PRKN DEAF1 DISP1 GAS1 SOX2 ADH1C CDC73 CACNA1S LRRK2 FOXH1 MECP2 BIRC3 ELN SCN11A MAGEL2 DNAJC6 OCRL ASCL1 JMJD1C UFD1 CREBBP HNRNPH2 TSHR COX2 DLL1 TXNRD2 SIX3 NKX2-5 GTF2I MBD5 MLH3 NSD1 FAN1 FOXG1 VPS11 RORA SLC26A4 MSH2 TG FOXH1 SETD5 DDOST KMT2A EDN3 CDON EDNRB TCF4 LHX3 OTX2 TLK2 GAS1 SMO OTUD6B KCNJ1 TRNH MRAP SLC5A5 KRT14 UFC1 RET COL5A2 TTR SPOP IGH NODAL BRAF RET LHX4 PSMB8 ACTG2 SHH DISP1 MNX1 MECP2 DSE POU1F1 NKX2-1 CSNK2A1 KIT GLI2 COL1A1 HIVEP2 TBCD RERE SCN9A TANC2 WDR26 DISP1 LMNB1 SIX3 ARNT2 POLG TWNK SLC6A8 FGF8 MEFV TDGF1 TGFBR2 CHST14 AQP2 LRIG2 TRNS2 GLI2 FGF8 TRNS1 STAT6 POU1F1 NR4A2 FGFR1 STAR CREBBP ZEB2 GABRA3 WFS1 ATN1 ND4 CDKL5 PAX8 ND5 PCCB CDON WAC STAG2 OCRL STXBP1 WASF1 FLI1 SIX3 COX1 RAI1 NGLY1 PCCA PIK3CA CAMTA1 DDOST KIT HPSE2 CTNS ZIC2 AQP2 ATRX FOXP1 PROP1 KRAS FGF8 PROKR2 SHH CNTNAP2 HMBS DHPS TH STAG2 PCGF2 NODAL SLC26A4 PTCH1 ZIC2 LMX1B NAB2 TRHR GAS1 ECE1 SLC5A5 TCF4 TRNF HESX1 FTL DUOXA2 DYRK1A UBE3B CDON DPF2 TYMP KCNJ18 UCHL1 TSHR PACS1 NNT CDKN1A MSL3 PTCH1 GLI2 SLC6A3 TCF4 TSHB SNCAIP COQ2 PACS1 ZEB2 CHST14 PARK7 SLC25A4 SLC12A3 NRTN ZMIZ1 SDHA SMC1A SCN10A CASR KRT5 CHCHD2 MLH1 NALCN MC2R KIT SPART GIGYF2 SOX3 PCCA HPSE2 FOXA2 SIK3 TRNK CDKN1B MEN1 PINK1 MRPS34 DDHD2 HMBS TCF20 PHOX2B CAVIN1 GDNF ADNP NRXN1 RET GLUD2 ABL1 MED25 SETD2 RREB1 PROP1 BMPR1A CD96 TRNL1 ARVCF ATRX GALNT2 PMS1 EDNRB ALDOB CLIP2 PDGFRA TBX1 IGHMBP2 POGZ PIGS SYNJ1 BRCA1 ODC1 BAZ1B ZSWIM6 LAMC2 PPOX LHX4 P4HTM GBA RAI1 UGP2 TRNQ RRM2B AFF4 TRH RFC2 SIX3 TDGF1 SEMA3C CDKN2C SLC6A3 PODXL USP7 ATRX HESX1 MLYCD GATAD2B CDON GDNF B2M OTUD6B MAGEL2 ALAD FDFT1 PPM1D EDN3 MED12L RAI1 GJC2 ZIC2 HESX1 LRRK2 GLI2 ARID2 EPCAM FOXE1 SPATA5 COX3 SLC6A8 FOXH1 TRIO EXT2 BCL10 VPS13C SNCA ND1 VPS35 EIF4G1 FGF8 ATRX GABRD POLG2 EP300 APC SOX3 SLC12A3 KCNAB2 TGIF1 WAC POLG2 GRIN1 DHCR7 PTCH1 DES TDGF1 CLCNKB VPS51 MMP1 SHH SCNN1B AVPR2 GLI2 CHRM3 SKI RPS20 GBA SDHB CREBBP GAS1 FOXG1 PROP1 COMT UNC80 TBX1 TGIF1 CDC73 WAC SCNN1G GTF2IRD1 MEFV PAX8 SCN11A PIGV LAMB3 IYD NFIX DEAF1 PTCH1 FGF12 ADAT3 FOXH1 RAI1 TAF1 FLII MALT1 NALCN SOX10 TGIF1 MDH2 SEMA4A SLC12A1 MED13 FLNA KCNH1 KDM1A APC2 FGFR1 PPOX ALPL EP300 TDGF1 TRNW DLL1 SHH RET TPO TGIF1 MED12 TBP PEX16 EP300 SOX10 TBCD MSH6 TNFRSF1A FOXP1 SCN9A ND6 FGFR1 ATXN8OS UBE2A SMPD1 POLG CREBBP CHD8 ELN PCCB CPOX WDR26 SDHC PAX8 DUOX2 ELP1 CISD2 NODAL COL7A1 DDC EDN3 TBL2 DLL1 COQ2 MED12 CDKN2B VPS11 HIRA LRIG2 SRCAP MITF IQSEC2 DMPK OTX2 PMS2 DLL1 PRDM16 SDHB ZEB2 DACT1 SEMA3D HTRA2 TBL1X UNC80 DISP1 SH2B1 TRNE
Protein Mutations 2
G1314A G1321A
SNP 0