CoChat
Sign Up
Cited by 28

The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.

A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease

Butler, Joe M., Sharif, Umar, Ali, Manir, McKibbin, Martin, Thompson, Joseph P., Gale, Richard, Yang, Yit C., Inglehearn, Chris, Paraoan, Luminita·2015·Human Genetics
DOI 10.1007/s00439-015-1552-7PMC PMC4460273
Open this paper in CoChat — free account

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1007/s00439-015-1552-7

Cites

9 of 9 references verified0 citation errors · 0 not checkable

Statistics

Figures

Fig. 1 Odds ratios for CST3 genotypes at rs1064039 estimated for AD by meta-analysis and for AMD by a single association study. ORs are measured relative to the “GG” genotype, by definition this baseline genotype has an OR of 1. Error bars represent 95 % CIs
Fig. 1 Odds ratios for CST3 genotypes at rs1064039 estimated for AD by meta-analysis and for AMD by a single association study. ORs are measured relative to the “GG” genotype, by definition this baseline genotype has an OR of 1. Error bars represent 95 % CIsCC BY · PubMed Central
Fig. 2 The per-allele odds ratio (ORN) decreases linearly with decreasing allele frequency (f N) when the true model is recessive; the elevated risk of homozygotes is kept constant (ORNN specified) and heterozygotes are at baseline risk (ORNX = 1). This relationship can be expressed as: ORN = f N(ORNN − 1) + 1. The single point represents CST3 rs1064039 with respect to AD
Fig. 2 The per-allele odds ratio (ORN) decreases linearly with decreasing allele frequency (f N) when the true model is recessive; the elevated risk of homozygotes is kept constant (ORNN specified) and heterozygotes are at baseline risk (ORNX = 1). This relationship can be expressed as: ORN = f N(ORNN − 1) + 1. The single point represents CST3 rs1064039 with respect to ADCC BY · PubMed Central
Fig. 3 Forest plots for the meta-analysis of CST3 rs1064039 with respect to exudative AMD in the Caucasian population using a fixed effects model. Size of the squares represents the weight of the study and horizontal bars represent 95 % CI of the OR. Applied to a “AA” genotype versus “GG” genotype and b “AG” genotype versus “GG” genotype
Fig. 3 Forest plots for the meta-analysis of CST3 rs1064039 with respect to exudative AMD in the Caucasian population using a fixed effects model. Size of the squares represents the weight of the study and horizontal bars represent 95 % CI of the OR. Applied to a “AA” genotype versus “GG” genotype and b “AG” genotype versus “GG” genotypeCC BY · PubMed Central
Fig. 4 Odds ratios for CST3 genotypes at rs1064039 estimated for AD and AMD meta-analyses. Note that the odds ratios are measured relative to the “GG” genotype, by definition this baseline genotype has an odds ratio of 1. Error bars represent 95 % CIs
Fig. 4 Odds ratios for CST3 genotypes at rs1064039 estimated for AD and AMD meta-analyses. Note that the odds ratios are measured relative to the “GG” genotype, by definition this baseline genotype has an odds ratio of 1. Error bars represent 95 % CIsCC BY · PubMed Central
Fig. 5 Pairwise linkage disequilibrium map of CST3 SNPs (maf >0.05) from a Caucasian sample (n = 503, from Phase 3 of the 1000 Genomes Project). Solid black squares represent pairs of SNPs in high LD (R 2 > 0.9) as depicted by Haploview. Missense SNP highlighted in red, the two other SNPs in the PCR product highlighted in blue, and the SNP associated with plasma level of cystatin C highlighted in green (colour figure online)
Fig. 5 Pairwise linkage disequilibrium map of CST3 SNPs (maf >0.05) from a Caucasian sample (n = 503, from Phase 3 of the 1000 Genomes Project). Solid black squares represent pairs of SNPs in high LD (R 2 > 0.9) as depicted by Haploview. Missense SNP highlighted in red, the two other SNPs in the PCR product highlighted in blue, and the SNP associated with plasma level of cystatin C highlighted in green (colour figure online)CC BY · PubMed Central

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 9 references

Research works printed but not linked: 33

  1. Akerblom A, Eriksson N, Wallentin L, Siegbahn A, Barratt BJ, Becker RC, Budaj A, Himmelmann A, Husted S, Storey RF, Johansson A, James SK (2014) Polymorphism of the cystatin C gene in patients with acute coronary syndromes: results from the Platelet inhibition and patient outcomes study. Am Heart J 168(96–102):e2. doi: 10.1016/j.ahj.2014.03.010 · DOI
  2. Ardeljan D, Meyerle CB, Agron E, Wang JJ, Mitchell P, Chew EY, Zhao J, Maminishkis A, Chan CC, Tuo J (2013) Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration. Eur J Hum Genet 21:1152–1157. doi: 10.1038/ejhg.2013.14 · DOI
  3. Bagos PG (2008) A unification of multivariate methods for meta-analysis of genetic association studies. Stat Appl Genet Mol Biol 7:Article31. doi: 10.2202/1544-6115.1408 · DOI
  4. Baird PN, Richardson AJ, Robman LD, Dimitrov PN, Tikellis G, McCarty CA, Guymer RH (2006) Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD). Hum Mutat 27:337–342. doi: 10.1002/humu.20288 · DOI · Paper page
  5. Benussi L, Ghidoni R, Steinhoff T, Alberici A, Villa A, Mazzoli F, Nicosia F, Barbiero L, Broglio L, Feudatari E, Signorini S, Finckh U, Nitsch RM, Binetti G (2003) Alzheimer disease-associated cystatin C variant undergoes impaired secretion. Neurobiol Dis 13:15–21 · DOI
  6. Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL, Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Corton M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 107:7401–7406. doi: 10.1073/pnas.0912702107 · DOI · Paper page
  7. Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP, Bishop PN, Hayward C, Campbell S, Armbrecht AM, Dhillon B, Deary IJ, Campbell H, Dunlop M, Dominiczak AF, Mann SS, Jenkins SA, Webster AR, Bird AC, Lathrop M, Zelenika D, Souied EH, Sahel JA, Leveillard T, Cree AJ, Gibson J, Ennis S, Lotery AJ, Wright AF, Clayton DG, Yates JR (2012) Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet 21:4138–4150. doi: 10.1093/hmg/dds225 · DOI
  8. Curtis D (2013) Approaches to the detection of recessive effects using next generation sequencing data from outbred populations. Adv Appl Bioinform Chem 6:29–35. doi: 10.2147/AABC.S44332 · DOI
  9. Escobar MA (2013) Advances in the treatment of inherited coagulation disorders. Haemophilia 19:648–659. doi: 10.1111/hae.12137 · DOI
  10. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, Keilhauer CN, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Said S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E et al (2013) Seven new loci associated with age-related macular degeneration. Nat Genet. doi: 10.1038/ng.2578 · DOI · Paper page
  11. Hageman GS (2012) Age-related macular degeneration (AMD). Moran Eye Center, USA
  12. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Ruther E, Schurmann B, Heun R, Kolsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frolich L, Hampel H, Gallacher J, Hull M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Muhleisen TW, Nothen MM, Moebus S, Jockel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC et al (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nat Genet 43:429–435. doi: 10.1038/ng.803 · DOI · Paper page
  13. Hook VY, Kindy M, Hook G (2008) Inhibitors of cathepsin B improve memory and reduce beta-amyloid in transgenic Alzheimer disease mice expressing the wild-type, but not the Swedish mutant, beta-secretase site of the amyloid precursor protein. J Biol Chem 283:7745–7753. doi: 10.1074/jbc.M708362200 · DOI
  14. Hua Y, Zhao H, Lu X, Kong Y, Jin H (2012) Meta-analysis of the cystatin C(CST3) gene G73A polymorphism and susceptibility to Alzheimer’s disease. Int J Neurosci 122:431–438. doi: 10.3109/00207454.2012.672502 · DOI
  15. Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature 498:232–235. doi: 10.1038/nature12170 · DOI
  16. Jun G, Nicolaou M, Morrison MA, Buros J, Morgan DJ, Radeke MJ, Yonekawa Y, Tsironi EE, Kotoula MG, Zacharaki F, Mollema N, Yuan Y, Miller JW, Haider NB, Hageman GS, Kim IK, Schaumberg DA, Farrer LA, DeAngelis MM (2011) Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology. PLoS One 6:e25775. doi: 10.1371/journal.pone.0025775 · DOI
  17. Kaarniranta K, Salminen A, Haapasalo A, Soininen H, Hiltunen M (2011) Age-related macular degeneration (AMD): Alzheimer’s disease in the eye? J Alzheimers Dis 24:615–631. doi: 10.3233/JAD-2011-101908 · DOI · Paper page
  18. Kaeser SA, Herzig MC, Coomaraswamy J, Kilger E, Selenica ML, Winkler DT, Staufenbiel M, Levy E, Grubb A, Jucker M (2007) Cystatin C modulates cerebral beta-amyloidosis. Nat Genet 39:1437–1439. doi: 10.1038/ng.2007.23 · DOI · Paper page
  19. Keenan TD, Goldacre R, Goldacre MJ (2014) Associations between age-related macular degeneration, Alzheimer disease, and dementia: record linkage study of hospital admissions. JAMA Ophthalmol 132:63–68. doi: 10.1001/jamaophthalmol.2013.5696 · DOI
  20. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fievet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossu P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanche H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alperovitch A, Lathrop M, Amouyel P (2009) Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer’s disease. Nat Genet 41:1094–1099. doi: 10.1038/ng.439 · DOI · Paper page
  21. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Moron FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fievet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossu P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F, Moebus S, Mecocci P, Del Zompo M, Maier W et al (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nat Genet 45:1452–1458. doi: 10.1038/ng.2802 · DOI · Paper page
  22. Lettre G, Lange C, Hirschhorn JN (2007) Genetic model testing and statistical power in population-based association studies of quantitative traits. Genet Epidemiol 31:358–362. doi: 10.1002/gepi.20217 · DOI
  23. Logue MW, Schu M, Vardarajan BN, Farrell J, Lunetta KL, Jun G, Baldwin CT, Deangelis MM, Farrer LA (2014) Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways. Neurobiol Aging 35(1510):e7–e18. doi: 10.1016/j.neurobiolaging.2013.12.007 · DOI
  24. Mi W, Pawlik M, Sastre M, Jung SS, Radvinsky DS, Klein AM, Sommer J, Schmidt SD, Nixon RA, Mathews PM, Levy E (2007) Cystatin C inhibits amyloid-beta deposition in Alzheimer’s disease mouse models. Nat Genet 39:1440–1442. doi: 10.1038/ng.2007.29 · DOI
  25. Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM (2010) Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci USA 107:7395–7400. doi: 10.1073/pnas.0912019107 · DOI · Paper page
  26. R Core Team (2014) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna
  27. Ratnayaka A, Paraoan L, Spiller DG, Hiscott P, Nelson G, White MR, Grierson I (2007) A dual Golgi- and mitochondria-localised Ala25Ser precursor cystatin C: an additional tool for characterising intracellular mis-localisation leading to increased AMD susceptibility. Exp Eye Res 84:1135–1139. doi: 10.1016/j.exer.2006.01.030 · DOI
  28. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carassquillo MM, Lambert JC, Harold D, Schrijvers EM, Ramirez-Lorca R, Debette S, Longstreth WT Jr, Janssens AC, Pankratz VS, Dartigues JF, Hollingworth P, Aspelund T, Hernandez I, Beiser A, Kuller LH, Koudstaal PJ, Dickson DW, Tzourio C, Abraham R, Antunez C, Du Y, Rotter JI, Aulchenko YS, Harris TB, Petersen RC, Berr C, Owen MJ, Lopez-Arrieta J, Varadarajan BN, Becker JT, Rivadeneira F, Nalls MA, Graff-Radford NR, Campion D, Auerbach S, Rice K, Hofman A, Jonsson PV, Schmidt H, Lathrop M, Mosley TH, Au R, Psaty BM, Uitterlinden AG, Farrer LA, Lumley T, Ruiz A, Williams J, Amouyel P, Younkin SG, Wolf PA, Launer LJ, Lopez OL, van Duijn CM, Breteler MM (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303:1832–1840. doi: 10.1001/jama.2010.574 · DOI · Paper page
  29. The Cochrane Collaboration (2012) Review Manager (RevMan). Version 5.3 edn. The Nordic Cochrane Centre, The Cochrane Collaboration, Copenhagen
  30. Turner RM, Omar RZ, Yang M, Goldstein H, Thompson SG (2000) A multilevel model framework for meta-analysis of clinical trials with binary outcomes. Stat Med 19:3417–3432 · DOI · Paper page
  31. Yang HC, Chang LC, Liang YJ, Lin CH, Wang PL (2012) A genome-wide homozygosity association study identifies runs of homozygosity associated with rheumatoid arthritis in the human major histocompatibility complex. PLoS One 7:e34840. doi: 10.1371/journal.pone.0034840 · DOI
  32. Zhao Y, Bhattacharjee S, Jones BM, Hill JM, Clement C, Sambamurti K, Dua P, Lukiw WJ (2014) Beta-amyloid precursor protein (betaAPP) processing in Alzheimer’s disease (AD) and age-related macular degeneration (AMD). Mol Neurobiol. doi: 10.1007/s12035-014-8886-3 · DOI
  33. Zurdel J, Finckh U, Menzer G, Nitsch RM, Richard G (2002) CST3 genotype associated with exudative age related macular degeneration. Br J Ophthalmol 86:214–219 · DOI · Paper page

Cited by

Sorted by citations

Metadata

Authors
Butler, J. M., Sharif, U., Ali, M., McKibbin, M., Thompson, J. P., Gale, R., Yang, Y. C., Inglehearn, C., & Paraoan, L.
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2015-04-19
Volume
134
Issue
7
Pages
705-715
ISSN
  • 0340-6717
  • 1432-1203
DOI
10.1007/s00439-015-1552-7
PMC
PMC4460273
Cited by
28
References
9
Language
en
Licence
creativecommons.org/licenses/by/4.0 (unspecified)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review