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Report for SNP rs2089760

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 Genetic: TGFB1 AND LAMA1 GENE POLYMORPHISMS
MeSH: Myopia
HPO: Myopia

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

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


HPO Nodes


Myopia
Genes 434
ARID1B GTF2H5 NONO POMT2 CANT1 TBC1D24 ZSWIM6 EIF2S3 VCAN ALDH3A2 NIPBL RAI1 IQSEC2 POLR1C RMRP MKRN3 CACNA1F SDHD SCO2 COL2A1 DAG1 FBN1 TRIT1 MIR140 IGF1 TRPM1 RP1 FKBP14 SMC3 COL2A1 ENPP1 PLOD1 CACNA2D4 CACNA1F BFSP2 FBN1 CBS ATP6V1E1 SLC2A10 ASXL1 GJA1 LAMB2 POMT2 ARR3 ADAMTS2 FKRP C12ORF57 EPHA2 POMT2 FBN2 PLOD1 BMP4 MYOC BRAF CLIP2 LAMA1 COL11A1 GPAA1 COL11A1 LARGE1 ALDH18A1 PRDM5 COL2A1 TULP1 KIF11 AP1B1 PTEN COL5A1 OPTN LTBP2 TBL2 AMMECR1 TBC1D24 BCL11B EMC1 IFT43 PSMD12 SNORD115-1 FANCI PRIMPOL HSPG2 GRK1 B3GLCT CRYGD FKTN DNAJC21 ADAMTS10 IFT122 COL2A1 HACE1 TRAPPC11 SH2B1 CHST14 FBN1 LARGE1 COL5A1 OAT NONO HERC2 COL9A3 GMPPB SLITRK6 ZSWIM6 GTF2I IFT122 CDC45 KIAA0586 EED ATP6V0A2 POMK SLC39A5 NDUFB11 CRYAA MPLKIP COL9A1 COL18A1 NPAP1 FGFR3 RP2 PACS1 CNGB3 HADHA HUWE1 NSD1 P4HTM ARCN1 KMT2A GLE1 OPN1LW COL2A1 POLR3A KCNV2 POMT2 AGK ELOVL4 MYOC CCNQ ATAD3A NOTCH2 OAT MAP2K1 COL2A1 PACS2 B3GALNT2 MAP2K2 OCA2 FKRP POMT2 KRAS RAI1 NYX BRAF ASXL1 GJC2 GPAA1 KCNE5 NIPBL TTC8 DPYD COL1A1 FKTN WAC HSPG2 NDN PCYT1A TRPM1 TMEM94 CTNNB1 CLDN19 CRYGC COL11A1 LARGE1 GNB3 TCF4 RBM10 POMT1 UCHL1 GTF2E2 MAP2K1 UBE3B TIMM8A POLR3A GJA1 MAF GMPPB COL2A1 B3GALNT2 POMT1 SETD5 USP9X ADAMTS17 POGZ TFAP2B CRIPT PTPN11 GZF1 SETD5 PTEN PAX2 MBD5 ADAMTS10 ATAD3A SKI GJA8 GMPPB SLC25A4 POGZ LRIT3 COL5A2 SNORD116-1 HACE1 SMS ANTXR1 TRAPPC11 LOXL3 SON BAZ1B ERCC2 RHO CACNA1F CACNA1F POMGNT1 ATP6V0A2 SMS TARS1 NRAS RPGR CHM RFC2 LTBP2 LRIT3 GRM6 ATRX PIK3CA MAP2K2 BPTF AGBL5 CLDN19 TRNT1 UBE3B IRX5 COL2A1 TYR ADAMTSL4 TEAD1 SLC24A1 GTF2IRD1 SIM1 POLR3B POMGNT1 SMC3 PRDM5 P3H2 RNF113A PMM2 HDAC8 ABCC6 ZNF408 COL18A1 PWRN1 LRPAP1 SOX5 BMP4 GLRB SETD5 CABP4 IFT52 FKRP COL4A4 PIK3R1 POMGNT1 ANKRD11 RPL10 AGK JAG1 DEAF1 PTEN KIF11 GRM6 CLDN16 P4HA2 BTD THOC6 ELN SMARCAL1 FBN1 COL2A1 KDM5C COX7B COL11A1 NT5C2 WDR35 VARS1 AMMECR1 EXOSC2 YME1L1 B3GALT6 LIG4 TCF4 HDAC8 HTT COL2A1 VPS13B ZNF644 GNPTG WDR19 COL11A1 B3GALT6 ACSL4 SKI USH2A MBTPS2 SOX5 KRAS POLR3A XYLT1 LOX VPS13B GPR143 IFIH1 SNRPN LRP2 POMT1 AKT1 AKT1 ZNF469 SDHC COL4A1 ERBB3 IPW MAGEL2 COL2A1 ATP6V1A LRP2 EFL1 CRYBA4 CRYBB1 SLC12A6 PDZD7 TAF1 MC1R COL4A3 OPN1MW MYO7A WDR19 KCNH1 POMT2 BRAF NSUN2 COL4A5 GNB3 CYP4V2 EXOC6B FKRP FBN1 CRYBB2 COL9A1 XYLT2 TBC1D7 POLR3B SAG ERCC3 LIMK1 TCF4 CCDC28B TFAP2A SMC1A AKT1 LTBP2 RAB28 FBN1 NT5C2 POMT1 MAGEL2 KDM5B PLOD3 GNAT1 CBS MKRN3-AS1 ZNF469 RAD21 COL9A2 KLHL7 C8ORF37 PWAR1 POMT1 CAMK2G GPR179 COL9A2 BBS1 PDE6B ADGRV1 COL4A3 KLLN ELP1 ACOX1 FKTN CHMP1A ADAMTSL1 SEC23B PIK3CA POMGNT1 COL2A1 MYO5A WHRN FLII MSX2 FKRP GPR179 PTEN ATP6V0A2 BLOC1S3 USP9X TWIST2 ABCC6 NYX TCF20 FKBP14 CRYBA2 SDHB FKTN CASK RIN2 RECQL4 POMGNT1 COL11A1 UBE3A HS6ST2 CSPP1 NBAS TUB CYP1B1 GTPBP2 PPP2R5D