<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT02248324</url>
  </required_header>
  <id_info>
    <org_study_id>0112S269</org_study_id>
    <nct_id>NCT02248324</nct_id>
  </id_info>
  <brief_title>Association of Previously Verified Gene Polymorphisms With AMD in Turkish Population</brief_title>
  <acronym>AMD-SNP</acronym>
  <official_title>A Multicenter Study on the Investigation of Previously Verified Leading Gene Polymorphisms Related to Age-related Macular Degeneration in Turkish Population</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Kocatepe University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>The Scientific and Technological Research Council of Turkey</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Kocatepe University</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to determine whether common genetic polymorphisms that have been&#xD;
      verified to be related to age-related macular degeneration (AMD) in some populations are also&#xD;
      associated with AMD in Turkish population&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Age-related macular degeneration (AMD) remains as the most important cause of severe visual&#xD;
      impairment of elderly people in developed countries. It is one of the best-characterized&#xD;
      complex trait diseases. Multiple genetic and environmental factors play a role in the&#xD;
      pathogenesis. A number of different biological pathways and related gene polymorphisms are&#xD;
      strongly implicated in its etiology. A lot of chromosomal locations have been studied to&#xD;
      figure out genetic risk factors responsible from the development of AMD. Most genetic&#xD;
      variants that have been found to be related to AMD at least in one study have not been&#xD;
      verified in subsequent studies. However in recent years, single-nucleotide polymorphisms&#xD;
      related to the complement system and also chromosome 10q26 have strongly been elicited to&#xD;
      predispose individuals to the susceptibility to AMD. These polymorphisms have been verified&#xD;
      in subsequent studies. However, results from different geographic regions of the world can&#xD;
      represent discrepancies according to ethnic populations. Aforementioned genetic tests have&#xD;
      been commercially introduced to give the patients the risk of progression to advanced stage&#xD;
      of AMD, and rate of the risk can be given by the genetic results together with environmental&#xD;
      factors in USA.&#xD;
&#xD;
      Age related macular degeneration is consisted of dry and wet forms. Although wet form is&#xD;
      responsible from severe vision loss due to AMD, dry form can progress to wet form by passage&#xD;
      of time. The risk of AMD increases when age get older and it causes very severe central&#xD;
      vision loss; consequently reduces considerably the quality of life in senile population.&#xD;
      Available treatment of AMD is expensive and has economical burden. Early diagnosis of the&#xD;
      disease has favourable impact on post-treatment prognosis. Although the basis of treatment is&#xD;
      primarily based on the preservation of current visual acuity, it is possible to obtain&#xD;
      improvement in visual acuity with the agents inhibiting angiogenesis in recent years.&#xD;
      However, complete response to the treatment is not obtained approximately in one fifth of the&#xD;
      patients. Different responses to the treatment are obtained in the remaining group. The&#xD;
      reason for the differences at the treatment may be due to different morphological subgroups&#xD;
      and/or diversity of genetic variants in wet AMD. . We do not at the moment know whether gen&#xD;
      polymorphisms related to AMD established in some western population are also related to AMD&#xD;
      in our population or whether this relationship has similar risk or protective effect for AMD.&#xD;
      The gen variants mostly studied in relation to AMD are CFH (rs1061170 and rs1410996),&#xD;
      LOC387715/ARMS-2 (A69S /rs10490924), HTRA-1 (rs11200638), C3 (R102G/ rs2230199), C2 E318D&#xD;
      (rs9332739), and CFB R32Q (rs641153). A preliminary study which was published recently,&#xD;
      carried out by our team in a single center and in a small number of patients showed that CFH&#xD;
      and LOC387715 gen polymorphisms entertain a risk for late AMD and suggested a necessity to&#xD;
      perform a forward study with larger population to learn definite information about our&#xD;
      population. On the other hand, the entire eight genetic locus related to AMD will be studied&#xD;
      first time in our population. In the introduced projects study, the relationship of eight&#xD;
      different gen polymorphisms (CFH rs1061170 and rs1410996, LOC387715 / ARMS2 gene rs10490924,&#xD;
      C2 gene rs9332739, CFB gene rs641153, CFI rs10033900 , HTRA-1 gene rs11200638, C3 rs2230199)&#xD;
      will be studied in 2800 patients with high risk intermediate and late stage AMD and 2200&#xD;
      age-matched control subjects. Blood samples from brachial veins of the study subjects will be&#xD;
      collected in the 5 health centers composed of Bursa Retina Eye Center and Hospitals of Afyon&#xD;
      Kocatepe University, Dokuz Eylul University, Konya University and Uludag University within&#xD;
      the period of 32 months. After the collection of venous samples, polymorphisms will be&#xD;
      genotyped by &quot;real-time PCR'' and ''pyrosequencing&quot; genotyping systems in the genetic&#xD;
      laboratory of Afyon Kocatepe University Medical School. Within the last 3 months of the&#xD;
      project duration, having completed genotyping of all samples, evaluation of the study data by&#xD;
      clinically and statistically will be made, and preparation of final report will be realized.&#xD;
      . As a primary outcome, protective effects or the risk rate of developing the late AMD for&#xD;
      each genetic polymorphism will be calculated by statistical analysis following the&#xD;
      genotyping. Sub-analyses will be done to investigate any relationship between genetic&#xD;
      polymorphism and response to the treatment. Sub-analyses will be done to determine possible&#xD;
      differences in genetic variants between the late dry and wet AMD and also among the&#xD;
      morphological subtypes of the wet AMD. Main study and secondary sub-studies derived from&#xD;
      sub-analyses by further methodology will be submitted as different studies for publication.&#xD;
      The anticipated results of the study may have impact on the management and follow-up of the&#xD;
      patients with AMD. Because AMD is etiologically multi-factorial disease and has environmental&#xD;
      controllable risk factor outside the genotypic features, it may be possible to early&#xD;
      diagnosis and frequent follow-up in addition to recommending to avoid from modifiable risk&#xD;
      factors in patients with early AMD who are genetically under the high risk of the development&#xD;
      of late AMD according to findings obtained from our study results. It will also be possible&#xD;
      to establish the patients with wet AMD who are resistant or sensitive to the treatment&#xD;
      according to genotyping. Whether performing genetic tests in patients who are candidate to&#xD;
      the late AMD in the near future is significant and meaningful for our population will be&#xD;
      established. Our results evaluated together with the literature will make substantial&#xD;
      contribution to better understanding of pathogenesis of AMD as well as early diagnosis and&#xD;
      better classification or treatment choices.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date>November 2012</start_date>
  <completion_date type="Anticipated">November 2017</completion_date>
  <primary_completion_date type="Anticipated">December 2016</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Control</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>rate of homozygous, heterozygous or wild type genotype and allels</measure>
    <time_frame>at the end of third years</time_frame>
    <description>Gene polymorphisms of 8 region with identification of homozygous, heterozygote and wild type genotyping and alleles</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Odds ratios for each genotyping in healthy elderly controls and patients with age related macular degeneration</measure>
    <time_frame>at the end of third years</time_frame>
  </secondary_outcome>
  <other_outcome>
    <measure>Odds ratios for various combinations of gene regions between healthy elderly control and patients with age related macular degeneration</measure>
    <time_frame>at the end of third years</time_frame>
  </other_outcome>
  <enrollment type="Anticipated">5000</enrollment>
  <condition>Age-related Macular Degeneration</condition>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Whole blood&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with intermediate and advanced age related macular degeneration&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Older age more than 50 years for the study group and older age more than 60 years for&#xD;
             the control group&#xD;
&#xD;
          -  Intermediate or advanced stage age-related macular degeneration&#xD;
&#xD;
          -  Active or inactive scar choroidal neovascularization&#xD;
&#xD;
          -  For control patients: Normal macular anatomy and no sign of any stage of age-related&#xD;
             macular degeneration&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  People with findings of advanced age-related macular degeneration due to other reasons&#xD;
             (inflammatory, myopic choroidal neovascularization etc..)&#xD;
&#xD;
          -  For control patients: Any sign of age-related macular degeneration&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>60 Years</minimum_age>
    <maximum_age>100 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Umit U INAN, MD</last_name>
    <role>Study Chair</role>
    <affiliation>Kocatepe University Medical School Department of Ophthalmology</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Umit U INAN, MD</last_name>
    <phone>+902722140600</phone>
    <email>uuinan@gmail.com</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Handan Yildizus, PhD</last_name>
    <phone>+905055044162</phone>
    <email>handanyildizus@yahoo.com</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Umit Ubeyt INAN</name>
      <address>
        <city>Afyonkarahisar</city>
        <state>Afyon</state>
        <zip>03200</zip>
        <country>Turkey</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Umit U Inan, MD</last_name>
      <phone>+905323248889</phone>
      <email>uuinan@gmail.com</email>
    </contact>
    <contact_backup>
      <last_name>Handan YILDIZ, PhD</last_name>
      <phone>+905055044162</phone>
      <email>handanyildizus@yahoo.com</email>
    </contact_backup>
    <investigator>
      <last_name>Umit U INAN, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Handan YILDIZUS, PhD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Nilufer KOCAK, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Banu OZTURK, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Hurkan KERIMOGLU, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Mujgan OZDEMIR, PhD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Berkant KADERLI, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Ozgur YALCINBAYIR, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Mustafa DOGAN, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Remzi AVCI, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Suleyman KAYNAK, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Suleyman DUNDAR, PhD</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>Turkey</country>
  </location_countries>
  <results_reference>
    <citation>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.</citation>
    <PMID>23289807</PMID>
  </results_reference>
  <results_reference>
    <citation>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.</citation>
    <PMID>18682812</PMID>
  </results_reference>
  <results_reference>
    <citation>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.</citation>
    <PMID>18682806</PMID>
  </results_reference>
  <results_reference>
    <citation>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.</citation>
    <PMID>18493315</PMID>
  </results_reference>
  <results_reference>
    <citation>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.</citation>
    <PMID>18436811</PMID>
  </results_reference>
  <results_reference>
    <citation>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.</citation>
    <PMID>18423869</PMID>
  </results_reference>
  <results_reference>
    <citation>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.</citation>
    <PMID>18162041</PMID>
  </results_reference>
  <results_reference>
    <citation>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. Erratum In: JAMA. 2007 Jun 20;297(23):2585.</citation>
    <PMID>17456821</PMID>
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    <citation>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.</citation>
    <PMID>19117936</PMID>
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    <citation>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.</citation>
    <PMID>16816528</PMID>
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    <citation>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.</citation>
    <PMID>18054635</PMID>
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    <citation>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.</citation>
    <PMID>19168221</PMID>
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    <citation>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.</citation>
    <PMID>17347568</PMID>
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    <citation>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.</citation>
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    <citation>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.</citation>
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    <citation>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.</citation>
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    <citation>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.</citation>
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  </results_reference>
  <verification_date>August 2016</verification_date>
  <study_first_submitted>September 20, 2014</study_first_submitted>
  <study_first_submitted_qc>September 20, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 25, 2014</study_first_posted>
  <last_update_submitted>August 29, 2016</last_update_submitted>
  <last_update_submitted_qc>August 29, 2016</last_update_submitted_qc>
  <last_update_posted type="Estimate">August 30, 2016</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Kocatepe University</investigator_affiliation>
    <investigator_full_name>Umit Ubeyt INAN</investigator_full_name>
    <investigator_title>Professor Doctor</investigator_title>
  </responsible_party>
  <keyword>Age-related macular degeneration, genetic polymorphisms</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Macular Degeneration</mesh_term>
  </condition_browse>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT02248324
org study id: 0112S269
nct id: NCT02248324
lead sponsor: 
collaborator: 
has dmc: Yes
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
Age-related macular degeneration (AMD) remains as the most important cause of severe visual
      impairment of elderly people in developed countries. It is one of the best-characterized
      complex trait diseases. Multiple genetic and environmental factors play a role in the
      pathogenesis. A number of different biological pathways and related gene polymorphisms are
      strongly implicated in its etiology. A lot of chromosomal locations have been studied to
      figure out genetic risk factors responsible from the development of AMD. Most genetic
      variants that have been found to be related to AMD at least in one study have not been
      verified in subsequent studies. However in recent years, single-nucleotide polymorphisms
      related to the complement system and also chromosome 10q26 have strongly been elicited to
      predispose individuals to the susceptibility to AMD. These polymorphisms have been verified
      in subsequent studies. However, results from different geographic regions of the world can
      represent discrepancies according to ethnic populations. Aforementioned genetic tests have
      been commercially introduced to give the patients the risk of progression to advanced stage
      of AMD, and rate of the risk can be given by the genetic results together with environmental
      factors in USA.

      Age related macular degeneration is consisted of dry and wet forms. Although wet form is
      responsible from severe vision loss due to AMD, dry form can progress to wet form by passage
      of time. The risk of AMD increases when age get older and it causes very severe central
      vision loss; consequently reduces considerably the quality of life in senile population.
      Available treatment of AMD is expensive and has economical burden. Early diagnosis of the
      disease has favourable impact on post-treatment prognosis. Although the basis of treatment is
      primarily based on the preservation of current visual acuity, it is possible to obtain
      improvement in visual acuity with the agents inhibiting angiogenesis in recent years.
      However, complete response to the treatment is not obtained approximately in one fifth of the
      patients. Different responses to the treatment are obtained in the remaining group. The
      reason for the differences at the treatment may be due to different morphological subgroups
      and/or diversity of genetic variants in wet AMD. . We do not at the moment know whether gen
      polymorphisms related to AMD established in some western population are also related to AMD
      in our population or whether this relationship has similar risk or protective effect for AMD.
      The gen variants mostly studied in relation to AMD are CFH (rs1061170 and rs1410996),
      LOC387715/ARMS-2 (A69S /rs10490924), HTRA-1 (rs11200638), C3 (R102G/ rs2230199), C2 E318D
      (rs9332739), and CFB R32Q (rs641153). A preliminary study which was published recently,
      carried out by our team in a single center and in a small number of patients showed that CFH
      and LOC387715 gen polymorphisms entertain a risk for late AMD and suggested a necessity to
      perform a forward study with larger population to learn definite information about our
      population. On the other hand, the entire eight genetic locus related to AMD will be studied
      first time in our population. In the introduced projects study, the relationship of eight
      different gen polymorphisms (CFH rs1061170 and rs1410996, LOC387715 / ARMS2 gene rs10490924,
      C2 gene rs9332739, CFB gene rs641153, CFI rs10033900 , HTRA-1 gene rs11200638, C3 rs2230199)
      will be studied in 2800 patients with high risk intermediate and late stage AMD and 2200
      age-matched control subjects. Blood samples from brachial veins of the study subjects will be
      collected in the 5 health centers composed of Bursa Retina Eye Center and Hospitals of Afyon
      Kocatepe University, Dokuz Eylul University, Konya University and Uludag University within
      the period of 32 months. After the collection of venous samples, polymorphisms will be
      genotyped by "real-time PCR'' and ''pyrosequencing" genotyping systems in the genetic
      laboratory of Afyon Kocatepe University Medical School. Within the last 3 months of the
      project duration, having completed genotyping of all samples, evaluation of the study data by
      clinically and statistically will be made, and preparation of final report will be realized.
      . As a primary outcome, protective effects or the risk rate of developing the late AMD for
      each genetic polymorphism will be calculated by statistical analysis following the
      genotyping. Sub-analyses will be done to investigate any relationship between genetic
      polymorphism and response to the treatment. Sub-analyses will be done to determine possible
      differences in genetic variants between the late dry and wet AMD and also among the
      morphological subtypes of the wet AMD. Main study and secondary sub-studies derived from
      sub-analyses by further methodology will be submitted as different studies for publication.
      The anticipated results of the study may have impact on the management and follow-up of the
      patients with AMD. Because AMD is etiologically multi-factorial disease and has environmental
      controllable risk factor outside the genotypic features, it may be possible to early
      diagnosis and frequent follow-up in addition to recommending to avoid from modifiable risk
      factors in patients with early AMD who are genetically under the high risk of the development
      of late AMD according to findings obtained from our study results. It will also be possible
      to establish the patients with wet AMD who are resistant or sensitive to the treatment
      according to genotyping. Whether performing genetic tests in patients who are candidate to
      the late AMD in the near future is significant and meaningful for our population will be
      established. Our results evaluated together with the literature will make substantial
      contribution to better understanding of pathogenesis of AMD as well as early diagnosis and
      better classification or treatment choices.
observational model: Case-Control
time perspective: Prospective
measure: rate of homozygous, heterozygous or wild type genotype and allels
time frame: at the end of third years
description: Gene polymorphisms of 8 region with identification of homozygous, heterozygote and wild type genotyping and alleles
measure: Odds ratios for each genotyping in healthy elderly controls and patients with age related macular degeneration
time frame: at the end of third years
measure: Odds ratios for various combinations of gene regions between healthy elderly control and patients with age related macular degeneration
time frame: at the end of third years
Whole blood
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 60 Years
maximum age: 100 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Umit U INAN, MD
role: Study Chair
affiliation: Kocatepe University Medical School Department of Ophthalmology
last name: Umit U INAN, MD
phone: +902722140600
email: uuinan@gmail.com
last name: Handan Yildizus, PhD
phone: +905055044162
email: handanyildizus@yahoo.com
facility: 
status: Recruiting
contact: 
contact backup: 
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country: Turkey
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PMID: 23289807
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PMID: 18682812
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PMID: 18436811
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PMID: 18054635
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PMID: 19168221
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responsible party type: Principal Investigator
investigator affiliation: Kocatepe University
investigator full name: Umit Ubeyt INAN
investigator title: Professor Doctor
mesh term: Macular Degeneration