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 303
SEMA4A SNRNP200 PROM1 OAT TTLL5 LRAT GNAT1 CNGB3 CACNA1F IFT172 RAB28 MVK REEP6 PRPF6 PDE6A BEST1 IMPG2 KIAA1549 SAG PRPH2 PEX7 GUCA1B CLRN1 PDE6G GNAT1 PDE6G COG4 GGCX GRK1 RBP3 ARL3 CA4 CRX TOPORS EYS PHYH IDH3B MFRP RDH12 PEX26 ADAM9 ZNF408 CACNA1F SCAPER MFN2 PITPNM3 SAG ARL2BP PRPH2 ROM1 RAX2 ATF6 CABP4 MYO7A RLBP1 PDE6B USH2A SAG USH1C CLRN1 PEX3 MMP19 POC1B PCYT1A PRPF3 TTPA WHRN OPN1MW PDE6B GRK1 FAM161A SLC7A14 SPATA7 KCNJ13 POMGNT1 SEMA4A NRL CYP4V2 SLC7A14 RLBP1 ABCA4 UNC119 PHYH RHO RDH5 PDZD7 AGBL5 FSCN2 MYO7A TRPM1 RHO CACNA2D4 RPGR PEX1 HADHA PEX13 BEST1 AIPL1 CRX GUCY2D RP1 DRAM2 RPE65 GUCY2D CABP4 TRPM1 PRPF8 CNNM4 PROM1 RBP3 CNGB1 MAK PRPF4 ZNF513 RBP3 IMPDH1 LRAT RDH5 AHI1 IFT140 GPR179 OPN1LW CHM CFAP410 GUCY2D SAG KCNV2 GNAT1 PEX2 CDH23 CNGB1 OFD1 PCDH15 HSD3B7 USH1G ADGRV1 MERTK ARL6 LRIT3 HARS1 PEX16 TRAPPC9 PEX11B GRM6 CDHR1 ARSG PEX5 CNGA1 DHDDS ZNF408 DRAM2 CACNA2D4 REEP6 CFAP410 RHO TULP1 EYS KIZ CRX PEX12 NYX C8ORF37 RGR AGBL5 RPGR AHR PRPF8 DHX38 IDH3A POU3F4 NEK2 NR2E3 CNGA3 MAK PROM1 RHO BBS2 PEX6 RLBP1 GUCA1A ITM2B RP9 PRPF3 CRX KLHL7 ELOVL4 TRNT1 STIM1 ABCA4 RLBP1 C8ORF37 AIPL1 CRB1 AIPL1 CEP78 GRM6 NR2E3 PEX19 VPS13B CDHR1 NMNAT1 CERKL NRL OAT GUCA1A BBS4 CDHR1 GNB3 PROM1 GNB3 HBB USH2A ABCA4 CHM RIMS1 RP2 NYX IMPDH1 PRPF31 CLRN1 IFT172 PRCD SLC24A1 MYO6 FAM161A SLC24A1 RPE65 RP1L1 CACNA1F PDE6H PRPH2 RPGRIP1 ROM1 ARHGEF18 LRIT3 PEX10 CIB2 PRPF4 PEX14 CA4 TUB ARL3 C1QTNF5 NMNAT1 TTC8 SEMA4A ARL3 ROM1 LRAT HK1 C8ORF37 RDH11 BEST1 NR2E3 RP9 PEX7 RHO TULP1 SNRNP200 IFT88 SPATA7 PRPH2 PCARE ESPN TULP1 PCARE PRPH2 FSCN2 AP3D1 MERTK PDE6B GPR179 ZNF513 RLBP1 CNGA1 CWC27 RHO HGSNAT IMPG2 HGSNAT POMGNT1 TTC8 PRPH2 FLVCR1 PRPF31 PRPH2 FGFR2 ARL6 FLVCR1 ARHGEF18 CNGA1 C8ORF37 RP1 CLRN1 AHR TRNS2 SEMA4A ABCA4 PRPH2 PDE6A CRB1 RP2 CLRN1
Protein Mutations 1
S100A