SNPMiner Trials by Shray Alag


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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 382
SLC26A4 PPM1D ALAD NALCN VPS11 CAMTA1 SDHB KIT DNAJC13 SLC6A8 LIMK1 SOX3 KCNJ1 TTR SCN11A BIRC3 ELP1 NAB2 KCNAB2 CPOX GBA ADH1C CHST14 AFF4 NGLY1 PDGFRA PMS2 TCF4 EPCAM POLG ELN TRNF CTNS SIX3 PCCB TBP PHOX2B AVPR2 SYNJ1 ATRX RRM2B ATXN8OS UCHL1 MED25 BRCA1 RAI1 PROP1 PRDM16 KRT14 SCNN1B SMO KMT2A WASF1 SCN9A SNCA PROP1 TSHR CDKL5 NFIX SDHC MALT1 DHPS ND1 ND4 MLH3 MSH2 POLG2 NR4A2 HESX1 ALDOB RREB1 TRNE UBE3B ADNP LRIG2 PODXL WDR26 GIGYF2 POLG GRIN1 TRNQ EDN3 LHX3 TRNK RET P4HTM LRIG2 BCL10 RAI1 MRAP KCNH1 MDH2 COQ2 CAMK2B CHST14 SRCAP GATAD2B TBCD LRRK2 RERE NKX2-1 B2M NRXN1 PCCA FLI1 UBE3A MECP2 COL7A1 UFC1 MLXIPL COQ2 MITF EDN3 TGFBR2 CHD8 COX3 SALL1 PAX8 GDNF TRH UNC80 TNFRSF1A MLYCD MNX1 NALCN ARVCF VPS13C AQP2 ATRX SCN9A KDM1A NKX2-5 DSE UBE2A POLG IGHMBP2 DDHD2 SOX3 IQSEC2 SKI GBA RAI1 SEMA4A PARK7 HNRNPH2 POLG2 HTRA2 BAZ1B SCNN1A MED13 TRNS2 PROKR2 ASCL1 TAF1 WAC CISD2 VPS35 AQP2 EXT2 CDC73 MMP1 RAI1 SOX2 TXNRD2 SEMA3D OCRL ZSWIM6 CHCHD2 TLK2 DUOXA2 TRNS1 GP1BB TCF4 HNRNPK AVPR2 GTF2IRD1 PIK3CA UFD1 GDNF SLC12A3 SLC26A4 TRNH FAN1 DDC PAX8 FGF12 FLNA PCCB MAPT TSHR STAR DACT1 PINK1 MBD5 TWNK KIT RFC2 ATN1 SLC6A8 TRIO SOX10 SNCA PROP1 SCN10A POU1F1 TTR ADAT3 PCCA LHX4 HFE GTF2I SNCAIP TPO LRRK2 LMX1B EDNRB BMPR1A ATXN2 CACNA1S GJC2 FOXP1 EXT2 DPF2 OCRL EP300 HPSE2 TSHB VANGL1 MC2R FOXE1 DEAF1 DHCR7 UNC80 CLCNKB WDR26 CDC73 FGFR1 BRAF CLIP2 POGZ COMT HPSE2 HESX1 NRXN1 DDOST SLC5A5 CASR SH2B1 JMJD1C VPS11 TCF20 HESX1 PIGV SOX10 FOXP1 STAT6 PCGF2 DMPK DUOX2 HIRA PPOX APC SLC6A3 NNT MRPS34 STXBP1 FOXG1 GLI2 COX1 SPART THRA MSH6 SLC5A5 WFS1 PMS1 CREBBP TRNW OTUD6B COL7A1 PRNP TYMP EDN3 MMP1 ND5 UGP2 PAX8 FOXA2 TBX1 CHRM3 ATRX MLH1 PRKN FLII OTUD6B ZEB2 ND6 KRT5 TH PACS1 SLC12A3 PPOX IGH KRAS ARNT2 IYD ELN TG TRNL1 POGZ DDOST RET MED12 MEFV SMPD1 CNTNAP2 ECE1 SCN11A EDNRB KIT TRIO TBL2 OTX2 SDHB PACS1 HMBS SIK3 HMBS PAX8 CSNK2A1 LHX4 SEMA3C DES SETD5 ALPL LMNB1 TSHR SLC12A1 TBX1 GABRD RET TBCD DEAF1 MED12 RPS20 USP7 PEX16 COX2 PIGS NRTN ABL1 ATRX KCNJ18 SDHA ACTG2 CPOX OTX2 NKX2-5 CAVIN1 RET FTL SEC24C CAMTA1 TCF4 HIVEP2 MAGEL2 MECP2 EIF4G1 TRHR COL7A1 SLC6A3 SLC25A4 SPATA5 TRNL1 COL7A1 SCNN1G POU1F1 ARID2 SDHC CD96 GLUD2 DNAJC6 GABRA3
Protein Mutations 2
G1314A G1321A
SNP 0