SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03451877

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

TGFB1 and LAMA1 Gene Polymorphisms in Turkish Children With High Myopia

The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications. Seventy-four children with high myopia (≥6 diopters [D]; study group) and 77 emmetropic children (±0.5D; control group) were included. Genetic and polymorphism analyses were performed in the Medical Genetics Laboratory using DNA purified from the patients' blood samples.

NCT03451877 High Myopia Gene Mutations
MeSH: Myopia
HPO: Myopia

1 Interventions

Name: TGFB1 AND LAMA1 GENE POLYMORPHISMS

Description: we evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia in an attempt to further elucidate the genetic basis of high myopia.

Type: Genetic

Study group Control group


Primary Outcomes

Description: evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia

Measure: Genetic basis of high myopia

Time: 4 years

Purpose: Screening

Allocation: Randomized

Crossover Assignment


There are 2 SNPs

SNPs


1 rs2089760

evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia.


2 rs4803455

evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia.



HPO Nodes


HPO:
Myopia
Genes 295
MKRN3 SNORD115-1 SOX5 PCYT1A ATP6V1A KDM5B ASXL1 ATP6V1E1 ERBB3 TRIT1 ERCC2 EED ERCC3 IRX5 EMC1 GPAA1 ATRX MYO5A CHST14 PDE6B MYO7A TMEM94 MYOC USP9X ENPP1 KCNV2 KDM5C SMC1A ACOX1 TBC1D7 IQSEC2 RNF113A KIAA0586 LAMA1 HDAC8 DAG1 IPW BBS1 PWRN1 DNAJC21 KCNE5 PDZD7 NDN PSMD12 POGZ ADGRV1 NYX OPN1MW GNPTG AGBL5 C12ORF57 PTEN CHM NSUN2 TUB LRIT3 IFT43 SNORD116-1 GPR179 TULP1 TBC1D24 WAC CDC45 ELOVL4 TYR XYLT2 ACSL4 SLC2A10 IFIH1 TTC8 GJA1 BPTF BMP4 TIMM8A GJA8 ZNF469 ARID1B RAB28 PTPN11 SAG FBN1 FBN2 MBTPS2 BRAF CANT1 KLHL7 UBE3A FKTN PIK3CA KCNH1 GLE1 BTD PIK3R1 UCHL1 CABP4 ZNF644 RIN2 JAG1 GLRB RECQL4 HACE1 NPAP1 ADAMTS17 WDR35 GTF2H5 ALDH18A1 ANTXR1 KMT2A PACS2 CRIPT AKT1 TRPM1 FGFR3 TAF1 PWAR1 GNAT1 HERC2 SLITRK6 AMMECR1 ALDH3A2 GNB3 BFSP2 POMK GMPPB PLOD1 USH2A NONO SLC39A5 ADAMTSL4 NIPBL VARS SEC23B NOTCH2 PRIMPOL SDHB SDHC KIF11 SDHD FKBP14 COL1A1 PMM2 RAD21 COL2A1 COL4A1 POMT2 CYP4V2 COL4A3 WHRN KRAS COL4A4 SLC12A6 COL4A5 COL5A1 CACNA1F COL5A2 FLII HSPG2 NDUFB11 TRAPPC11 SCO2 TCF4 P4HA2 DPYD EFL1 COL9A1 COL9A2 COL9A3 ADAMTSL1 COL11A1 COL11A2 MAGEL2 B3GLCT PLOD3 DEAF1 NRAS SLC25A4 ADAMTS2 CLIP2 FKRP SMARCAL1 B3GALNT2 UBE3B POLR1C OPN1LW NSD1 COX7B ELP1 BAZ1B GPR143 POMGNT1 LAMB2 B3GALT6 TWIST2 GJC2 OAT OCA2 ZSWIM6 POMT1 TEAD1 SIM1 RFC2 GTF2IRD1 SKI CCNQ PRDM5 GRM6 CBS TFAP2A EXOSC2 TFAP2B ABCC6 SH2B1 ARCN1 POLR3A RHO GRK1 MKRN3-AS1 CASK THOC6 WDR19 CRYAA ADAMTS10 CRYBA2 CRYBA4 CRYBB1 CRYBB2 RMRP MSX2 NBAS PACS1 CRYGC COL18A1 CRYGD LIG4 LIMK1 GTF2E2 CACNA2D4 KLLN GTPBP2 OPTN TRNT1 IGF1 POLR3B BCL11B PPP2R5D GTF2I IFT52 GZF1 SMC3 SETD5 ATAD3A P3H2 LOX FANCI EIF2S3 EPHA2 ZNF408 VCAN CNGB3 CLDN16 NT5C2 ANKRD11 LRP2 MPLKIP AGK LRPAP1 BLOC1S3 SMS PAX2 IFT122 LTBP2 RP1 ELN HADHA RP2 CLDN19 RPGR C8ORF37 MBD5 SLC24A1 MAP2K1 MAP2K2 CSPP1 YME1L1 SNRPN TBL2 VPS13B RPL10 RAI1 HTT ATP6V0A2 SON MAF LARGE1 CHMP1A