Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PLEKHA7 and COL11A1 were genotyped for single-nucleotide polymorphisms (SNPs) to investigate the possible association of these two genes with primary angle-closure glaucoma (PACG) and disease severity.
|
30809385 |
2019 |
Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genotype data of the 8 PACG single-nucleotide polymorphisms (SNPs) (rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on Chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were available.
|
31377279 |
2019 |
Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 8 PACG single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 son chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were genotyped by Taqman assays.
|
29310965 |
2018 |
Angle Closure Glaucoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Thus, downregulation of PLEKHA7 in PACG may affect BAB integrity and aqueous humor outflow via its Rac1/Cdc42 GAP activity, thereby contributing to disease etiology.
|
29016860 |
2017 |
Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We affirmed the association of PACG and combined PACS/PAC/PACG with 10 polymorphisms in 8 genes/loci, including COL11A1 (rs3753841-G, OR, 1.22; P = 0.00046), HGF (rs17427817-C, OR, 2.02; P = 6.9E-07; rs5745718-A, OR, 2.11; P = 9.9E-07), HSP70 (rs1043618, GG+GC, OR, 0.52; P = 0.0010), MFRP (rs2510143-C, OR, 0.66; P = 0.012; rs3814762-G, OR, 1.40; P = 0.0090), MMP9 (rs3918249-C, OR, 1.35; P = 0.034), NOS3 (rs7830-A, OR, 0.80; P = 0.036), PLEKHA7 (rs11024102-G, OR, 1.24; P = 8.3E-05), and PCMTD1-ST18 (rs1015213-A, OR, 1.59; P = 0.00013).
|
26854036 |
2016 |
Angle Closure Glaucoma
|
0.400 |
Biomarker
|
disease |
CTD_human |
We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
|
27064256 |
2016 |
Angle Closure Glaucoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent genome-wide association studies revealed a large number of susceptibility gene variants associated with both POAG (e.g., CDKN2BAS, CAV1/CAV2, and ATOH7) and PACG (e.g., PLEKHA7 and COL11A1 PCMTD1-ST18).
|
26497787 |
2015 |
Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic associations in PLEKHA7 and COL11A1 with primary angle closure glaucoma: a meta-analysis.
|
25732101 |
2015 |
Angle Closure Glaucoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Specific localization of PLEKHA7 was found within PACG-related structures (iris, ciliary body, and choroid) and blood-aqueous barrier (BAB) structures (posterior iris epithelium, nonpigmented ciliary epithelium, iris and ciliary body microvasculature).
|
24801512 |
2014 |
Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identified: COL11A1 rs3753841, PCMTD1-ST18 rs1015213, and PLEKHA7 rs11024102.
|
24474268 |
2014 |
Angle Closure Glaucoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Both COL11A1 and PLEKHA7 were shown to confer significant risk for acute PAC/PACG.
|
24854855 |
2014 |
Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG).
|
23847314 |
2013 |
Angle Closure Glaucoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18.
|
23920366 |
2013 |
Angle Closure Glaucoma
|
0.400 |
Biomarker
|
disease |
CTD_human |
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
|
22922875 |
2012 |
Cleft upper lip
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
|
29805042 |
2018 |
Primary angle-closure glaucoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genotype data of the 8 PACG single-nucleotide polymorphisms (SNPs) (rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on Chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were available.
|
31377279 |
2019 |
Primary angle-closure glaucoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PLEKHA7 and COL11A1 were genotyped for single-nucleotide polymorphisms (SNPs) to investigate the possible association of these two genes with primary angle-closure glaucoma (PACG) and disease severity.
|
30809385 |
2019 |
Primary angle-closure glaucoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The 8 PACG single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 son chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were genotyped by Taqman assays.
|
29310965 |
2018 |
Primary angle-closure glaucoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Thus, downregulation of PLEKHA7 in PACG may affect BAB integrity and aqueous humor outflow via its Rac1/Cdc42 GAP activity, thereby contributing to disease etiology.
|
29016860 |
2017 |
Primary angle-closure glaucoma
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
|
27064256 |
2016 |
Primary angle-closure glaucoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We affirmed the association of PACG and combined PACS/PAC/PACG with 10 polymorphisms in 8 genes/loci, including COL11A1 (rs3753841-G, OR, 1.22; P = 0.00046), HGF (rs17427817-C, OR, 2.02; P = 6.9E-07; rs5745718-A, OR, 2.11; P = 9.9E-07), HSP70 (rs1043618, GG+GC, OR, 0.52; P = 0.0010), MFRP (rs2510143-C, OR, 0.66; P = 0.012; rs3814762-G, OR, 1.40; P = 0.0090), MMP9 (rs3918249-C, OR, 1.35; P = 0.034), NOS3 (rs7830-A, OR, 0.80; P = 0.036), PLEKHA7 (rs11024102-G, OR, 1.24; P = 8.3E-05), and PCMTD1-ST18 (rs1015213-A, OR, 1.59; P = 0.00013).
|
26854036 |
2016 |
Primary angle-closure glaucoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic associations in PLEKHA7 and COL11A1 with primary angle closure glaucoma: a meta-analysis.
|
25732101 |
2015 |
Primary angle-closure glaucoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Recent genome-wide association studies revealed a large number of susceptibility gene variants associated with both POAG (e.g., CDKN2BAS, CAV1/CAV2, and ATOH7) and PACG (e.g., PLEKHA7 and COL11A1 PCMTD1-ST18).
|
26497787 |
2015 |
Primary angle-closure glaucoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Both COL11A1 and PLEKHA7 were shown to confer significant risk for acute PAC/PACG.
|
24854855 |
2014 |
Primary angle-closure glaucoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identified: COL11A1 rs3753841, PCMTD1-ST18 rs1015213, and PLEKHA7 rs11024102.
|
24474268 |
2014 |