investigated the association of PLEKHA1 958A/G, polymorphisms with Age-Related Macular Degeneration (AMD) risk. PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014) | Polymorphisms in Selected Genes and Their Association with Age-Related Macular Degeneration in a Chinese Population. Huang Q, Xiang Y., Free PMC Article | 09/8/2018 |
Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium. | Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle? Kortvely E, Ueffing M. | 04/23/2016 |
CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with age-related macular degeneration in an Indian population. | Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients. Gupta D, Gupta V, Singh V, Chawla S, Parveen F, Agrawal S, Phadke SR. | 05/16/2015 |
This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to age-related macular degeneration risk. | Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis. Yu W, Dong S, Zhao C, Wang H, Dai F, Yang J., Free PMC Article | 06/14/2014 |
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) | Integrative predictive model of coronary artery calcification in atherosclerosis. McGeachie M, Ramoni RL, Mychaleckyj JC, Furie KL, Dreyfuss JM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich S, Sale M, Ramoni MF., Free PMC Article | 04/7/2010 |
Independent of CFH genotype or smoking history, an individual's risk of AMD (age-related macular degeneration) could be increased or decreased, depending on their genotype or haplotype in the 10q26 region. | Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A Jr, Miller JW, Dryja TP, Ott J, Kim IK, Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A Jr, Miller JW, Dryja TP, Ott J, Kim IK., Free PMC Articles: PMC4242506, PMC4242506 | 01/21/2010 |
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) | Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A Jr, Miller JW, Dryja TP, Ott J, Kim IK, Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A Jr, Miller JW, Dryja TP, Ott J, Kim IK., Free PMC Articles: PMC4242506, PMC4242506 | 03/13/2008 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. Leveziel N, Souied EH, Richard F, Barbu V, Zourdani A, Morineau G, Zerbib J, Coscas G, Soubrane G, Benlian P, Leveziel N, Souied EH, Richard F, Barbu V, Zourdani A, Morineau G, Zerbib J, Coscas G, Soubrane G, Benlian P. | 03/13/2008 |
Observational study and meta-analysis of gene-disease association. (HuGE Navigator) | CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Conley YP, Jakobsdottir J, Mah T, Weeks DE, Klein R, Kuller L, Ferrell RE, Gorin MB. | 03/13/2008 |
Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesA variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. | 03/13/2008 |
Although a role for PLEKHA1 could not be totally excluded, there was a four times higher age-related macular degeneration risk was associated with haplotype "A-T-A" involving "PLEKHA1-LOC387715-HTRA1" risk alleles. | PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. Leveziel N, Souied EH, Richard F, Barbu V, Zourdani A, Morineau G, Zerbib J, Coscas G, Soubrane G, Benlian P, Leveziel N, Souied EH, Richard F, Barbu V, Zourdani A, Morineau G, Zerbib J, Coscas G, Soubrane G, Benlian P. | 01/21/2010 |
PLEKHA1 is strongly implicated as primarily responsible for the evidence of linkage of age-related maculopathy (ARM) to the 10q26 locus and as a major contributor to ARM.susceptibility. | Susceptibility genes for age-related maculopathy on chromosome 10q26. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB., Free PMC Article | 01/21/2010 |
syntrophins regulate the localization of TAPP1, which may be important for remodeling the actin cytoskeleton in response to growth factor stimulation | The phosphoinositol 3,4-bisphosphate-binding protein TAPP1 interacts with syntrophins and regulates actin cytoskeletal organization. Hogan A, Yakubchyk Y, Chabot J, Obagi C, Daher E, Maekawa K, Gee SH. | 01/21/2010 |
TAPP1 binds to protein tyrosine phosphatase PTPL1. | Interaction of the protein tyrosine phosphatase PTPL1 with the PtdIns(3,4)P2-binding adaptor protein TAPP1. Kimber WA, Deak M, Prescott AR, Alessi DR., Free PMC Article | 01/21/2010 |