Association of Previously Verified Gene Polymorphisms With AMD in Turkish Population

NCT02248324 | Unknown DMC

• 1 other identifier: 0112S269
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to determine whether common genetic polymorphisms that have been verified to be related to age-related macular degeneration (AMD) in some populations are also associated with AMD in Turkish population

Conditions

Age-related Macular Degeneration

Keywords

Age-related macular degeneration, genetic polymorphisms

Outcome Measures

Primary Outcomes (1)

• rate of homozygous, heterozygous or wild type genotype and allels

  Gene polymorphisms of 8 region with identification of homozygous, heterozygote and wild type genotyping and alleles

  at the end of third years

Secondary Outcomes (1)

• Odds ratios for each genotyping in healthy elderly controls and patients with age related macular degeneration

  at the end of third years

Other Outcomes (1)

• Odds ratios for various combinations of gene regions between healthy elderly control and patients with age related macular degeneration

  at the end of third years

Eligibility Criteria

• Age: 60 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with intermediate and advanced age related macular degeneration

You may qualify if:

• Older age more than 50 years for the study group and older age more than 60 years for the control group
• Intermediate or advanced stage age-related macular degeneration
• Active or inactive scar choroidal neovascularization
• For control patients: Normal macular anatomy and no sign of any stage of age-related macular degeneration

You may not qualify if:

• People with findings of advanced age-related macular degeneration due to other reasons (inflammatory, myopic choroidal neovascularization etc..)
• For control patients: Any sign of age-related macular degeneration

Sponsors & Collaborators

• Kocatepe University: lead
• The Scientific and Technological Research Council of Turkey: collaborator

Study Sites (1)

Umit Ubeyt INAN

Afyonkarahisar, Afyonkarahisar, 03200, Turkey (Türkiye)

RECRUITING

Related Publications (23)

• Kim YH, Kim HS, Mok JW, Joo CK. Gene-gene interactions of CFH and LOC387715/ARMS2 with Korean exudative age-related macular degeneration patients. Ophthalmic Genet. 2013 Sep;34(3):151-9. doi: 10.3109/13816810.2012.749287. Epub 2013 Jan 4.

  PMID: 23289807 RESULT

• Xu Y, Guan N, Xu J, Yang X, Ma K, Zhou H, Zhang F, Snellingen T, Jiao Y, Liu X, Wang N, Liu N. Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Mol Vis. 2008 Jul 28;14:1373-81.

  PMID: 18682812 RESULT

• Francis PJ, Zhang H, Dewan A, Hoh J, Klein ML. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Mol Vis. 2008 Aug 4;14:1395-400.

  PMID: 18682806 RESULT

• Jakobsdottir J, Conley YP, Weeks DE, Ferrell RE, Gorin MB. C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS One. 2008 May 21;3(5):e2199. doi: 10.1371/journal.pone.0002199.

  PMID: 18493315 RESULT

• Kaur I, Katta S, Hussain A, Hussain N, Mathai A, Narayanan R, Hussain A, Reddy RK, Majji AB, Das T, Chakrabarti S. Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Invest Ophthalmol Vis Sci. 2008 May;49(5):1771-6. doi: 10.1167/iovs.07-0560.

  PMID: 18436811 RESULT

• Klein ML, Francis PJ, Rosner B, Reynolds R, Hamon SC, Schultz DW, Ott J, Seddon JM. CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology. 2008 Jun;115(6):1019-25. doi: 10.1016/j.ophtha.2008.01.036.

  PMID: 18423869 RESULT

• Hughes AE, Orr N, Patterson C, Esfandiary H, Hogg R, McConnell V, Silvestri G, Chakravarthy U. Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PLoS Med. 2007 Dec;4(12):e355. doi: 10.1371/journal.pmed.0040355.

  PMID: 18162041 RESULT

• Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, Klein ML. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA. 2007 Apr 25;297(16):1793-800. doi: 10.1001/jama.297.16.1793.

  PMID: 17456821 RESULT

• Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci. 2009 May;50(5):2044-53. doi: 10.1167/iovs.08-3064. Epub 2008 Dec 30.

  PMID: 19117936 RESULT

• Seddon JM, George S, Rosner B, Klein ML. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2006;61(3):157-65. doi: 10.1159/000094141. Epub 2006 Jun 30.

  PMID: 16816528 RESULT

• Brantley MA Jr, Fang AM, King JM, Tewari A, Kymes SM, Shiels A. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology. 2007 Dec;114(12):2168-73. doi: 10.1016/j.ophtha.2007.09.008.

  PMID: 18054635 RESULT

• Despriet DD, van Duijn CM, Oostra BA, Uitterlinden AG, Hofman A, Wright AF, ten Brink JB, Bakker A, de Jong PT, Vingerling JR, Bergen AA, Klaver CC. Complement component C3 and risk of age-related macular degeneration. Ophthalmology. 2009 Mar;116(3):474-480.e2. doi: 10.1016/j.ophtha.2008.09.055. Epub 2009 Jan 24.

  PMID: 19168221 RESULT

• Francis PJ, George S, Schultz DW, Rosner B, Hamon S, Ott J, Weleber RG, Klein ML, Seddon JM. The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2007;63(3-4):212-8. doi: 10.1159/000100046. Epub 2007 Mar 7.

  PMID: 17347568 RESULT

• Seitsonen SP, Onkamo P, Peng G, Xiong M, Tommila PV, Ranta PH, Holopainen JM, Moilanen JA, Palosaari T, Kaarniranta K, Meri S, Immonen IR, Jarvela IE. Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration. PLoS One. 2008;3(12):e3833. doi: 10.1371/journal.pone.0003833. Epub 2008 Dec 2.

  PMID: 19048105 RESULT

• Francis PJ, Hamon SC, Ott J, Weleber RG, Klein ML. Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss. J Med Genet. 2009 May;46(5):300-7. doi: 10.1136/jmg.2008.062737. Epub 2008 Nov 17.

  PMID: 19015224 RESULT

• Caire J, Recalde S, Velazquez-Villoria A, Garcia-Garcia L, Reiter N, Anter J, Fernandez-Robredo P, Alfredo Garcia-Layana; Spanish Multicenter Group on AMD. Growth of geographic atrophy on fundus autofluorescence and polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in age-related macular degeneration. JAMA Ophthalmol. 2014 May;132(5):528-34. doi: 10.1001/jamaophthalmol.2013.8175.

  PMID: 24557084 RESULT

• Shuler RK Jr, Hauser MA, Caldwell J, Gallins P, Schmidt S, Scott WK, Agarwal A, Haines JL, Pericak-Vance MA, Postel EA. Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Arch Ophthalmol. 2007 Jan;125(1):63-7. doi: 10.1001/archopht.125.1.63.

  PMID: 17210853 RESULT

• Wegscheider BJ, Weger M, Renner W, Steinbrugger I, Marz W, Mossbock G, Temmel W, El-Shabrawi Y, Schmut O, Jahrbacher R, Haas A. Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. Ophthalmology. 2007 Apr;114(4):738-42. doi: 10.1016/j.ophtha.2006.07.048.

  PMID: 17398321 RESULT

• Seddon JM, Reynolds R, Yu Y, Daly MJ, Rosner B. Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology. 2011 Nov;118(11):2203-11. doi: 10.1016/j.ophtha.2011.04.029. Epub 2011 Sep 29.

  PMID: 21959373 RESULT

• Andreoli MT, Morrison MA, Kim BJ, Chen L, Adams SM, Miller JW, DeAngelis MM, Kim IK. Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration. Am J Ophthalmol. 2009 Dec;148(6):869-74. doi: 10.1016/j.ajo.2009.07.002. Epub 2009 Oct 1.

  PMID: 19796758 RESULT

• Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol. 2012 Feb;41(1):250-62. doi: 10.1093/ije/dyr204. Epub 2012 Jan 13.

  PMID: 22253316 RESULT

• Klein R, Myers CE, Meuer SM, Gangnon RE, Sivakumaran TA, Iyengar SK, Lee KE, Klein BE. Risk alleles in CFH and ARMS2 and the long-term natural history of age-related macular degeneration: the Beaver Dam Eye Study. JAMA Ophthalmol. 2013 Mar;131(3):383-92. doi: 10.1001/jamaophthalmol.2013.713.

  PMID: 23494043 RESULT

• Lima LH, Schubert C, Ferrara DC, Merriam JE, Imamura Y, Freund KB, Spaide RF, Yannuzzi LA, Allikmets R. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. Ophthalmology. 2010 Aug;117(8):1567-70. doi: 10.1016/j.ophtha.2009.12.018. Epub 2010 Apr 8.

  PMID: 20378180 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Macular Degeneration

Condition Hierarchy (Ancestors)

Retinal Degeneration; Retinal Diseases; Eye Diseases

Study Officials

• Umit U INAN, MD

  Kocatepe University Medical School Department of Ophthalmology

  STUDY CHAIR

Central Study Contacts

Umit U INAN, MD

CONTACT

+902722140600; uuinan@gmail.com

Handan Yildizus, PhD

CONTACT

+905055044162; handanyildizus@yahoo.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor Doctor

Study Record Dates

• First Submitted: September 20, 2014
• First Posted: September 25, 2014
• Study Start: November 1, 2012
• Primary Completion: December 1, 2016
• Study Completion: November 1, 2017
• Last Updated: August 30, 2016

Record last verified: 2016-08

Locations

TU (1)