Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population

Li, Kecheng; Yang, Chen; Wan, Xiao-Qin; Xu, Jiaxin; Luo, Qin; Cheng, Yilian; Peng, Jie; Gong, Bo; Jiang, Li; Liu, Yuping; Shuai, Ping

doi:10.1080/13816810.2020.1747089

Cited by 4 publications

(3 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Moreover, a study in worms and flies implicated sym-3 and its Drosophila melanogaster ortholog, CG8671, along with several endocytic regulators, in the uptake of dsRNA molecules during RNA silencing ( Saleh et al, 2006 ). Finally, recent reports have implicated FAM102A variants in glaucoma ( Khor et al, 2016 ; Li et al, 2020 ; Nongpiur et al, 2018 ; Shi et al, 2021 ; Zhuang et al, 2018 ), an eye disorder linked to altered ECM components and abnormal ECM histology ( Hernandez and Ye, 1993 ; Nikhalashree et al, 2019 ; O'Callaghan et al, 2017 ; Tribble et al, 2018 ; Vranka et al, 2015 ; Wiggs, 2015 ). Thus, FAM102A family members may carry out conserved functions in trafficking and ECM biology.…”

Section: Discussionmentioning

confidence: 99%

“…FAM102A family proteins contain an N-terminal C2 (NT-C2) domain, a motif involved in lipid binding that is found in membrane-associated proteins including the conserved trafficking factors EHBP1 and Synaptotagmin-1 ( Lynch et al, 2007 ; Shi et al, 2010 ; Zhang and Aravind, 2010 ). Whereas the specific molecular and cellular functions of FAM102A family proteins are unknown, FAM102A mutations have been implicated in the progression of glaucoma ( Khor et al, 2016 ; Li et al, 2020 ; Nongpiur et al, 2018 ; Shi et al, 2021 ; Zhuang et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Effectors of anterior morphogenesis in C. elegans embryos

et al. 2023

View full text Add to dashboard Cite

During embryogenesis the nascent Caenorhabditis elegans epidermis secretes an apical extracellular matrix (aECM) that serves as an external stabilizer, preventing deformation of the epidermis by mechanical forces exerted during morphogenesis. At present, the factors that contribute to aECM function are mostly unknown, including the aECM components themselves, their posttranslational regulators, and the pathways required for their secretion. Here we showed that two proteins previously linked to aECM function, SYM-3/FAM102A and SYM-4/WDR44, colocalize to intracellular and membrane-associated puncta and likely function in a complex. Proteomics experiments also suggested potential roles for SYM-3/FAM102A and SYM-4/WDR44 family proteins in intracellular trafficking. Nonetheless, we found no evidence to support a clear function for SYM-3 or SYM-4 in the apical deposition of two aECM components, NOAH-1 and FBN-1. Moreover, loss of a key splicing regulator of fbn-1, MEC-8/RBPMS2, had surprisingly little effect on the abundance or deposition of FBN-1. Using a focused screening approach, we identified 32 additional proteins that likely contribute to the structure and function of the embryonic aECM. We also characterized morphogenesis defects in embryos lacking mir-51 microRNA family members, which display a similar phenotype to mec-8; sym double mutants. Collectively, these findings add to our knowledge of factors controlling embryonic morphogenesis.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Effectors of anterior morphogenesis in C. elegans embryos

et al. 2023

View full text Add to dashboard Cite

show abstract

“…Genome-wide association studies (GWAS) have revealed several single nucleotide polymorphisms (SNPs) at different loci associated with glaucoma, including caveolin 1 (CAV1), caveolin 2 (CAV2), cyclin-dependent kinase inhibitor 2B-antisense noncoding RNA (CDKN2B-AS1), neurotrophin-4 (NTF4), transmembrane and coiled-coil domains 1 (TMCO1) and more recently, thioredoxin reductase 2 (TXNRD2), ataxin 2 (ATXN2), forkhead box C1 (FOXC1), SIX6, GLI-similar 3 (GLIS3), fibronectin type III domain containing 3B (FNDC3B), LIM homeobox transcription factor 1B (LMX1B), phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), myeloid ecotropic insertion site 2 (MEIS2) and lysyl oxidase like 1 (LOXL1). [7][8][9][10][11][12][13][14][15] MicroRNAs (miRNAs) are small, non-coding RNAs consisting of about 22 nucleotides that regulate gene expression at the post-transcriptional level, affecting a variety of biological processes. [16] Growing evidence suggests that miRNAs play an important role in the pathogenesis of POAG.…”

Section: Introductionmentioning

confidence: 99%

Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma

et al. 2020

View full text Add to dashboard Cite

Glaucoma is a progressive optic neuropathy resulting from retinal ganglion cells death; it represents one of the leading causes of irreversible blindness worldwide. Although, primary open angle glaucoma (POAG) is the most common type of the disease, the pathogenesis of POAG and the genetic factors contributing to disease development remain poorly understood. The aim of this study was to investigate whether the polymorphisms rs76481776 in miR182 gene and rs3217992 in cyclin-dependent kinase inhibitor-2B (CDKN2B) gene are risk factors for POAG in a series of patients of Greek origin. A case-control study was conducted including 120 patients with POAG and 113 unaffected healthy controls of Greek origin, surveyed for polymorphisms with potential correlation to POAG. DNA from each individual was tested for the miR182 rs76481776 and CDKN2B rs3217992 polymorphisms. Regarding the miR182 rs76481776 polymorphism, the T allele occurred with significantly higher frequency in POAG patients compared to controls (OR: 2.62, 95% CI: 1.56-4.39; p = 0.0002). The CDKN2B rs3217992 A allele frequency was found significantly increased in POAG patients compared to healthy individuals (OR: 1.72, 95% CI: 1.18-2.49; p = 0.005). Therefore, both rs76481776 polymorphism in miR182 gene and rs3217992 polymorphism in CDKN2B gene seem to be associated with the development of POAG in a Greek population. The carriers of the T allele of rs76481776 in miR182 and the carriers of the A allele of rs3217992 in CDKN2B have an increased risk of developing POAG.

show abstract

Pathways that affect anterior morphogenesis inC. elegansembryos

Balasubramaniam

Topalidou

Kelley

et al. 2023

Preprint

View full text Add to dashboard Cite

During embryogenesis the nascent Caenorhabditis elegans epidermis secretes an apical extracellular matrix (aECM) that serves as an external stabilizer, preventing deformation of the epidermis by mechanical forces exerted during morphogenesis. We showed that two conserved proteins linked to this process, SYM-3/FAM102A and SYM-4/WDR44, colocalize to intracellular and membrane-associated puncta and likely function together in a complex. Proteomics data also suggested potential roles for FAM102A and WDR44 family proteins in intracellular trafficking, consistent with their localization patterns. Nonetheless, we found no evidence to support a clear function for SYM-3 or SYM-4 in the apical deposition of two aECM components, FBN-1 and NOAH. Surprisingly, loss of MEC-8/RBPMS2, a conserved splicing factor and regulator of fbn-1, had little effect on the abundance or deposition of FBN-1 to the aECM. Using a focused screening approach, we identified 32 additional proteins that likely contribute to the structure and function of the embryonic aECM. Lastly, we examined morphogenesis defects in embryos lacking mir-51 microRNA family members, which display a related embryonic phenotype to mec-8; sym double mutants. Collectively, our findings add to our knowledge of pathways controlling embryonic morphogenesis.

show abstract

Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese population

Cited by 4 publications

References 17 publications

Effectors of anterior morphogenesis in C. elegans embryos

Effectors of anterior morphogenesis in C. elegans embryos

Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma

Pathways that affect anterior morphogenesis inC. elegansembryos

Contact Info

Product

Resources

About