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Refractive Errors, Myopia, and Presbyopia
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Ka Wai Kam, Chi Pui Pang, Jason C. S. Yam
During the past two decades, linkage analyses, candidate gene studies, genome-wide association studies (GWAS), whole-exome sequencing (WES), and next-generation sequencing (NGS) studies have remarkably advanced our understanding of the genetic architecture of myopia. At present, 26 chromosomal loci (MYP1–MYP27) are linked to non-syndromic high myopia (www.omim.org/). NGS has identified mutations in 13 genes associated with high myopia: ZNF644,67CCDC111,68NDUFAF7,69P4HA2,70,71SCO2,72UNC5D,73BSG,74ARR3,75LOXL3,76SLC39A5,77LRPAP1,78CTSH,78 and CPSF1.79 GWAS has identified many susceptible genes for refractive errors, including 11q24.1,80 4q25, 13q12.12 (MIPEP),81 and 5p15 (CTNND2),82MYP10 at 8p23 and MYP15 at 10p21.1,83ZC3H11B on 1q41,84VIPR2, SNTB1,85and ZFHX1B,86ZC3H11B,84GJD2,87RASGRF1,88HIVEP3, NFASC/CNTN2, CNTN4/CNTN6, FRMD4B, LINC02418, and AKAP13.89 In 2018, a large-scale meta-GWAS of European ancestry replicated 37 genes and reported 104 novel susceptibility loci, but these loci are estimated to account for less than 8% of the phenotypic variance of refractive error.90
Peripheral signature of altered synaptic integrity in young onset cannabis use disorder: A proteomic study of circulating extracellular vesicles
Published in The World Journal of Biological Psychiatry, 2023
Suhas Ganesh, TuKiet T. Lam, Rolando Garcia-Milian, Deepak Cyril D'Souza, Angus C. Nairn, Katya Elgert, Erez Eitan, Mohini Ranganathan
A total of 465 unique proteins were identified by the Mascot search algorithm across the four different NDE preparations from pooled plasma replicates. The top 20 enriched GO ‘cellular component’ terms derived from an overrepresentation analysis against a background reference list of human protein coding genes (n = 20,595, PANTHER database) are presented in Table 1. This analysis confirmed a broad enrichment profile of NDE proteins for cellular components related to EVs. Specifically, >280 (60%) of the identified proteins mapped to GO terms extracellular membrane-bounded organelle (GO:0065010), extracellular exosome (GO:0070062), or extracellular vesicle (GO:1903561), with a > 5.7-fold (each FDR p < 2.7E-141) enrichment for each of these terms. Additional enrichment terms of interest relevant to the biogenesis of EVs were cell surface (GO:0009986)—99 proteins, 4.6-fold enrichment, FDR p = 3E-33; and endoplasmic reticulum lumen (GO:0005788)—59 proteins, 8.1-fold enrichment, FDR p = 1.6E-30. Classical EV markers like CD9, CD59, and multiple heat shock proteins were also identified. Relevant to the CNS, GO terms that surpassed the FDR threshold included neuronal cell body (GO:0043025)—26 proteins, 2.2-fold enrichment, FDR p = 0.006 and axon (GO:0030424)—28 proteins, 1.8-fold enrichment, FDR p = 0.0498. Additionally, in the human brain proteome database (Sjostedt et al. 2020), 19 (4.1%) and 68 (14.6%) proteins were identified as brain-enriched and brain-elevated, respectively but this enrichment was not statistically significant. Highly specific neuronal proteins like NCAM1/2, L1CAM, APP, NRCAM, NPTX1, NTM, VGF, NFASC, NRXN1/2/3, NPTXR, OPCML, SERPINI1, LYNX1, and NRN1 were detected in the enriched NDEs (Supplementary Table 2).
Evaluation of myopia-associated genes in a Han Chinese population with high myopia
Published in Ophthalmic Genetics, 2023
Zhenzhen Liu, Guangqi An, Yadan Huo, Youmei Xu, Pengyi Zhou, Kunpeng Xie, Haiyan Zhu, Bo Jin, Liping Du, Xuemin Jin
CNTN2, CNTN4, and CNTN6 encode members of the contactin family of proteins, which are primarily expressed in the nervous system (12). Decreased NFASC/CNTN2 on 1q32.1 expression associated with the risk allele (C) of rs2246661 has been reported to lead to diminished dopamine release (12,13). The altered expression of CNTN4 or CNTN6 is associated with the risk allele (T) of rs170290206 and affects GABA receptor levels or synaptogenesis, contributing to the development of myopia (11). Our study failed to demonstrate the association of these two SNPs (rs2246661, rs170290206) with myopia.