SNPMiner Trials by Shray Alag


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 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 Sarcopenia Mitochondrial DNA
MeSH: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 Constipation 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 376
TRNF MEFV IYD TH SLC26A4 GABRA3 ATRX PAX8 PCCB SDHC USP7 SCN9A SCNN1A PRDM16 FLI1 SNCAIP MLYCD RRM2B GBA OTUD6B MC2R KRT14 GLI2 CNTNAP2 SPART FOXG1 SKI SOX10 MECP2 KCNAB2 PRKN GABRD TRNL1 SLC12A3 HFE SDHC CISD2 BCL10 PPM1D SIX3 LIMK1 SNCA ADH1C MRAP ATRX OCRL CHRM3 TBL2 PACS1 DPF2 PHOX2B BRCA1 CPOX RET DSE COL7A1 UCHL1 VPS13C GLUD2 TWNK UFC1 MALT1 TRNL1 MAPT AQP2 WFS1 SCN10A ZSWIM6 RPS20 DDC SLC12A1 TAF1 PEX16 FTL CHST14 RERE NKX2-5 SCN11A FOXP1 TCF4 GDNF SOX2 TBX1 MRPS34 B2M MMP1 ND1 DEAF1 NFIX ATRX SLC6A8 ELP1 DDOST ASCL1 CLCNKB HNRNPH2 NAB2 PPOX COX2 ARNT2 HIRA MITF KCNH1 EDN3 RAI1 AFF4 GJC2 STAT6 TYMP SH2B1 PAX8 SEMA4A TBCD UFD1 PAX8 PODXL EDN3 LRRK2 CLIP2 HTRA2 CACNA1S SETD5 CAVIN1 PDGFRA LHX3 TG RET CSNK2A1 CHCHD2 CAMTA1 PCGF2 NRXN1 CHD8 NRXN1 SOX10 MECP2 TPO CTNS WDR26 TRNQ DHCR7 ACTG2 EDNRB PCCB UNC80 RET DACT1 COL7A1 JMJD1C PROP1 ARID2 VPS35 UBE2A LMX1B MDH2 BRAF POLG2 SLC5A5 MLH1 IGHMBP2 STAR TSHR ALDOB KCNJ18 CAMK2B NR4A2 PROKR2 BMPR1A TRHR NKX2-5 POLG TRNK PARK7 SIK3 TTR TRNS1 TTR TRH MBD5 PMS1 GIGYF2 FGFR1 UBE3B NKX2-1 PAX8 GRIN1 MAGEL2 COQ2 MNX1 POLG2 FOXE1 SEC24C COQ2 ADNP NGLY1 DNAJC13 RAI1 MSH6 HPSE2 FLII SLC6A8 SLC25A4 TSHR PIK3CA PRNP OCRL SLC12A3 ATN1 POLG CHST14 PIGS PIGV AVPR2 BIRC3 PROP1 ABL1 EPCAM STXBP1 TCF4 PPOX SDHB IQSEC2 KRAS GDNF SCN11A HESX1 SLC5A5 TCF20 DUOX2 ATRX VPS11 SPATA5 RET NALCN IGH CDKL5 NNT NALCN TLK2 THRA SDHA PMS2 MED25 HIVEP2 EXT2 CASR COMT POU1F1 KCNJ1 TCF4 SDHB OTUD6B ATXN2 CDC73 ARVCF GTF2I DUOXA2 GBA SEMA3D TRNW COX3 SOX3 TGFBR2 LHX4 POLG P4HTM UNC80 TNFRSF1A HPSE2 DDOST PCCA SNCA TRNH COX1 CPOX VANGL1 ELN COL7A1 SMPD1 DHPS LRRK2 HMBS TXNRD2 TBX1 AVPR2 ND5 VPS11 ND4 SRCAP ZEB2 LRIG2 LRIG2 TSHB HESX1 DNAJC6 TRNS2 MLXIPL HMBS FGF12 ALAD KIT RAI1 ALPL ADAT3 LMNB1 WDR26 ELN WAC CAMTA1 TRIO KMT2A SEMA3C SCN9A MMP1 FLNA FOXA2 EXT2 EDNRB RREB1 POGZ TBP PACS1 HESX1 ATXN8OS BAZ1B SLC6A3 DES FAN1 RAI1 CDC73 POU1F1 DEAF1 GATAD2B SMO PINK1 PROP1 EIF4G1 AQP2 PCCA DDHD2 TRNE KIT GP1BB OTX2 OTX2 MSH2 ECE1 RFC2 APC KIT NRTN HNRNPK MED12 SOX3 KDM1A SCNN1B POGZ MLH3 SALL1 FOXP1 ND6 TBCD TSHR SCNN1G EDN3 EP300 LHX4 UBE3A CD96 COL7A1 GTF2IRD1 SLC6A3 CREBBP SLC26A4 MED12 KRT5
Protein Mutations 0
SNP 0