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Gene Review

ARMS2  -  age-related maculopathy susceptibility 2

Homo sapiens

Synonyms: ARMD8, Age-related maculopathy susceptibility protein 2, LOC387715
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Disease relevance of ARMS2


High impact information on ARMS2

  • The adjusted PAR percentage estimates are 20% for smoking, 36% for LOC387715, and 43% for CFH [3].
  • Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration [3].
  • All nonsynonymous SNPs in this critical region were genotyped, yielding a highly significant association (P < .00001) between PLEKHA1/LOC387715 and ARM [4].
  • PLEKHA1, which is closely linked to LOC387715, was significantly associated with ARM status in the AREDS cohort, but not the CHS cohort and ELOVL4 was not significantly associated with ARM in either cohort [5].
  • Our data show a disease odds ratio of 57.6 (95% CI: 37.2, 89.0) conferred by homozygosity for risk alleles at both CFH and LOC387715 when compared with the baseline non-risk genotype [1].

Biological context of ARMS2


Associations of ARMS2 with chemical compounds

  • Association studies have identified a major risk variant within the complement factor H gene (CFH), and recent reports suggest that PLEKHA1/LOC387715 and the BF/C2 regions may be major risk loci for AMD as well [8].

Other interactions of ARMS2

  • The combination of our analyses strongly implicates PLEKHA1/LOC387715 as primarily responsible for the evidence of linkage of ARM to the 10q26 locus and as a major contributor to ARM susceptibility [4].
  • We identified a strong association signal overlying three genes, PLEKHA1, LOC387715, and PRSS11 [4].

Analytical, diagnostic and therapeutic context of ARMS2

  • LOC387715 was also significantly associated with ARM in both cohorts (P</=0.00001) and a meta-analysis confirmed that the risk allele in the heterozygous and homozygous state (OR, 2.5 and 7.3; 95% CI, 2.2-2.9 and 5.7-9.4, respectively) confers susceptibility [5].
  • The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration [2].


  1. 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, S.A., Fritsche, L.G., Keilhauer, C.N., Lichtner, P., Meitinger, T., Weber, B.H. Hum. Mol. Genet. (2005) [Pubmed]
  2. The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration. Francis, P.J., George, S., Schultz, D.W., Rosner, B., Hamon, S., Ott, J., Weleber, R.G., Klein, M.L., Seddon, J.M. Hum. Hered. (2007) [Pubmed]
  3. Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration. Schmidt, S., Hauser, M.A., Scott, W.K., Postel, E.A., Agarwal, A., Gallins, P., Wong, F., Chen, Y.S., Spencer, K., Schnetz-Boutaud, N., Haines, J.L., Pericak-Vance, M.A. Am. J. Hum. Genet. (2006) [Pubmed]
  4. Susceptibility genes for age-related maculopathy on chromosome 10q26. Jakobsdottir, J., Conley, Y.P., Weeks, D.E., Mah, T.S., Ferrell, R.E., Gorin, M.B. Am. J. Hum. Genet. (2005) [Pubmed]
  5. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Conley, Y.P., Jakobsdottir, J., Mah, T., Weeks, D.E., Klein, R., Kuller, L., Ferrell, R.E., Gorin, M.B. Hum. Mol. Genet. (2006) [Pubmed]
  6. Neovascular Age-Related Macular Degeneration and Its Association With LOC387715 and Complement Factor H Polymorphism. Shuler, R.K., Hauser, M.A., Caldwell, J., Gallins, P., Schmidt, S., Scott, W.K., Agarwal, A., Haines, J.L., Pericak-Vance, M.A., Postel, E.A. Arch. Ophthalmol. (2007) [Pubmed]
  7. Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H). Shastry, B.S. J. Hum. Genet. (2007) [Pubmed]
  8. The genetics of age-related macular degeneration: a review of progress to date. Haddad, S., Chen, C.A., Santangelo, S.L., Seddon, J.M. Survey of ophthalmology. (2006) [Pubmed]
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