SNPMiner Trials by Shray Alag


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Report for Mutation S100A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Stopping Postpartum Vitamin A Supplementation: Are we Missing Concealed Benefit?

The purpose of this study is to evaluate the effect of post-partum maternal vitamin A supplementation on breast milk bioactive compounds and immune status, growth and morbidity of children in the first four months of life.

NCT02043223 Vitamin A Deficiency Dietary Supplement: Vitamin A (<3-day postpartum) Dietary Supplement: Vitamin A (6 wk postpartum) Dietary Supplement: Vitamin A (<3-day and 6 wk postpartum) Dietary Supplement: Placebo
MeSH:Night Blindness Vitamin A Deficiency
HPO:Low levels of vitamin A Nyctalopia

human β-defensin-2 (HBD2); Neopterin; α-1-antitrypsin (AAT); neutrophil gelatinase-associated lipocalin (NGAL)-2 and S100A at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination). --- S100A ---

Primary Outcomes

Description: immune regulators in breast milk e.g. B-cell activating factor (BAFF); IL-7; Lactoferrin; sCD14, sIgA and TGF-beta levels at three time points- < 3-day postpartum (before 1st dose of supplementation) 7 wk postpartum (1wk after 2nd dose of supplementation) 15 wk postpartum

Measure: Breast milk immune regulators

Time: Four months

Secondary Outcomes

Description: Mitogen stimulated whole blood IL-10, IL-13, IFN-gamma, IL-21 and IL-17 responses at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant T helper cell immune responses

Time: Four months

Description: Tall like receptor (TLR)-4 and TLR9 agonist stimulated whole blood TNF-alpha and IL-10 and IFN-alpha responses at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant innate immune responses

Time: Four months

Description: Hepatitis B and Tetanus Toxoid specific plasma cell IgG responses at 15 wk of age (1wk after three doses of pentavalent vaccination) And Hepatitis B and Tetanus Toxoid specific IgG in plasma and Polio (3 serotypes) specific secretory IgA (sIgA) in stool at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant vaccines (Hepatitis B, Tetanus and Oral polio) specific antibody responses

Time: Four months

Description: Next generation sequencing (NGS) of bacterial 16s rDNA (+qPCR) in extracted stool samples and assessment of infant gut inflammatory markers e.g. human β-defensin-2 (HBD2); Neopterin; α-1-antitrypsin (AAT); neutrophil gelatinase-associated lipocalin (NGAL)-2 and S100A at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Relative abundance of infant gut microbial community and gut inflammatory markers

Time: Four months

Other Outcomes

Description: Infant plasma vitamin A status at 7 wk and 15 wk of age

Measure: Infant vitamin A status

Time: Four months

Description: Infant Weight-for-Age z-score (WAZ) at 7 wk and 15 wk of age

Measure: Infant growth

Time: Four months

Description: Infant morbidity status up to four months of age

Measure: Infant morbidity

Time: Four months

Description: Plasma Retinol Binding Protein (RBP) and breast milk vitamin A level at two time points- < 3-day postpartum (before 1st dose of supplementation) 15 wk postpartum

Measure: Mother vitamin A status

Time: Four months


HPO Nodes


HP:0000662: Nyctalopia
Genes 315
RHO TRNF ARSG PEX5 MYO6 GUCY2D HGSNAT DRAM2 RP1 PHYH TRNS2 SEMA4A LRAT RDH12 BEST1 GUCA1A PEX6 IDH3A IFT172 CYP4V2 MAK PRPH2 CACNA2D4 IFT172 BEST1 CDHR1 POMGNT1 RHO FSCN2 RIMS1 TRNL1 CRX RP1 KCNV2 MERTK PROM1 C8ORF37 USH1G BBS2 CRB1 ROM1 PROM1 RDH11 PEX2 PDE6A AIPL1 RP9 PRPF4 NR2E3 FGFR2 ARL2BP CABP4 IMPG2 PEX10 POMGNT1 CA4 HADHA ROM1 RP9 TRNT1 RBP3 MFN2 KIZ CABP4 PRPF8 PRPH2 RDH5 PEX19 TOPORS GUCA1A USH2A BBS4 PCYT1A RPGR MAK REEP6 MFRP PRPH2 ABCA4 MMP19 PRPF4 GPR179 RLBP1 ND1 POU3F4 TUB RHO FAM161A CDH23 MYO7A AHR GUCY2D PRPF8 ABCA4 VPS13B ESPN COX2 AP3D1 CRX PEX7 PITPNM3 ITM2B ARL3 LRIT3 SAG TRAPPC9 PRPH2 NYX ZNF408 USH2A SNRNP200 HARS1 PRPF6 CNGA1 MERTK ELOVL4 OPN1MW POC1B NR2E3 ARHGEF18 KIAA1549 IDH3B KLHL7 SLC24A1 TRNQ PRPF3 SLC7A14 SEMA4A GPR179 AGBL5 CNGB1 MYO7A CDHR1 PDE6G OAT RBP3 ADAM9 AGBL5 CFAP410 CEP78 ATF6 RDH5 CRX CA4 RLBP1 TRNS1 CHM CRX RPGRIP1 HSD3B7 EYS CNNM4 NEK2 PRPH2 PDE6H PEX7 CERKL LRIT3 HGSNAT SCAPER PRCD RP2 PCARE GNAT1 PRPF3 DHDDS RHO CACNA1F GNAT1 ZNF513 TTLL5 AIPL1 CFAP410 RHO NRL CIB2 CACNA1F NR2E3 GUCA1B PDE6B ZNF513 SAG GRM6 CNGB1 ZNF408 CNGA1 PEX13 DRAM2 GNAT1 UNC119 PEX11B FSCN2 HBB TULP1 CDHR1 TRPM1 PRPF31 CLRN1 CNGA3 MVK CWC27 RHO TTPA ARHGEF18 CRB1 WHRN TRNW PEX1 COX3 ROM1 IMPDH1 C8ORF37 PDZD7 PDE6B LRAT SAG PRPH2 PDE6G PRPF31 STIM1 GRM6 CLRN1 TRNH SLC24A1 COX1 COG4 TTC8 NRL PDE6A CLRN1 PROM1 RAB28 RGR ND5 FLVCR1 PEX14 ND4 PROM1 SEMA4A PRPH2 C8ORF37 NMNAT1 SPATA7 ARL6 RLBP1 TRNS2 ABCA4 HK1 TTC8 PEX26 TULP1 FLVCR1 AIPL1 NMNAT1 ARL3 ARL6 RPE65 RAX2 REEP6 OPN1LW SEMA4A EYS GGCX AHI1 GRK1 CNGB3 SPATA7 C1QTNF5 SNRNP200 ADGRV1 DHX38 RBP3 AHR SLC7A14 ABCA4 SAG TULP1 PCARE RLBP1 CACNA2D4 RP2 RLBP1 CLRN1 CLRN1 PRPH2 NYX RPGR TRPM1 LRAT RPE65 PEX16 GNB3 PDE6B IMPDH1 IFT140 IMPG2 CACNA1F ND6 FAM161A OAT USH1C GNB3 BEST1 ARL3 IFT88 CHM KCNJ13 PCDH15 PEX3 C8ORF37 PEX12 GUCY2D GRK1 PHYH OFD1
Protein Mutations 1
S100A