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      Lack of relationship between Alu repetitive elements in angiotensin converting enzyme and the severity of diabetic retinopathy Translated title: Nedostatak veze između Alu repetitivnih elemenata u angiotenzin konvertujućem enzimu i ozbiljnosti dijabetičke retinopatije

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          Abstract

          Background

          Angiotensin-converting enzyme (ACE) stimulates angiogenesis that leads to the development of diabetic retinopathy (DR). Alu repetitive elements in ACE gene increase the expression of this enzyme. We investigated the frequency of Alu repetitive elements, insertion/deletion (I/D) polymorphism, in angiotensin-converting enzyme among diabetic retinopathy patients and whether this polymorphism is associated with the severity of retinopathy in Jordanians with type 2 diabetes.

          Methods

          A total of 277 subjects participated in this case/ control study (100 diabetic patients without DR, 82 diabetic patients with DR, and 95 healthy control). Blood samples were withdrawn, followed by DNA extraction. Alu repetitive elements were examined by polymerase chain reaction followed by gel electrophoresis.

          Results

          The genotype and allele frequencies among diabetic patients, were close to healthy controls (genotypes, II 44.4 vs. 44.7%, ID 44.4 vs. 42.6%, DD 12.2 vs. 12.8%, P = 0.402 and 0.677 respectively, alleles, I 65.6 vs. 66%, D 34.4 vs. 34%, P=0.863). Complicated diabetics with retinopathy showed similar genotype and allele frequency to those without complications. The severity of diabetic retinopathy in affected individuals was not correlated with I/D polymorphism (P=0.862).

          Conclusions

          We conclude that the presence of Alu repetitive elements did not increase the development or progression risk to retinopathy in Jordanian type 2 diabetic patients. No association between I or D alleles with the severity of DR was detected.

          Translated abstract

          Uvod

          Anagiotenzin konvertujući enzim (ACE) stimuliše angio genezu koja dovodi do razvoja dijabetičke retinopatije (DR). Alu repetitivni elementi u genu ACE povećavaju ekspresiju ovog enzima. Istražili smo učestalost Alu ponavljajućih elemenata, polimorfizam insercije/delecije (I/D) u angiotenzin konvertujućem enzimu među pacijentima sa dijabetičnom retinopatijom i da li je ovaj polimorfizam povezan sa ozbiljnošću retinopatije kod Jordanaca sa dijabetesom tipa 2.

          Metode

          U ovoj studiji sa kontrolnom grupom učestvovalo je ukupno 277 ispitanika (100 pacijenata sa dijabetesom bez DR, 82 pacijenta sa dijabetesom sa DR i 95 zdravih pacijenata). Uzeti su uzorci krvi, nakon čega je izvršena ekstrakcija DNK. Alu repetitivni elementi su ispitivani lančanom reakcijom polimeraze praćenom gel elektroforezom.

          Rezultati

          Učestalost genotipa i alela kod dijabetičara bila je blizu zdravih kontrolnih pacijenata (genotipovi, II 44,4 naspram 44,7%, ID 44,4 naspram 42,6%, DD 12,2 naspram 12,8%, P = 0,402 i 0,677, aleli, I 65,6 naspram 66%, D 34,4 nasuprot 34%, P = 0,863, respektivno). Komplikovani dijabetičari sa retinopatijom pokazali su sličan genotip i frekvenciju alela onima bez komplikacija. Ozbiljnost dijabetičke retinopatije kod pacijenata nije u korelaciji sa I/D polimorfizmom (P = 0,862).

          Zaključak

          Zaključili smo da prisustvo ponavljajućih elemenata Alu repetitivnih elemenata nije povećalo rizik od razvoja ili progresije retinopatije kod jordanskih pacijenata sa dijabetesom tipa 2. Nije otkrivena povezanost alela I ili D sa težinom DR.

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          Most cited references38

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          Initial sequencing and analysis of the human genome.

          The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
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            An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels.

            A polymorphism consisting of the presence or absence of a 250-bp DNA fragment was detected within the angiotensin I-converting enzyme gene (ACE) using the endothelial ACE cDNA probe. This polymorphism was used as a marker genotype in a study involving 80 healthy subjects, whose serum ACE levels were concomitantly measured. Allele frequencies were 0.6 for the shorter allele and 0.4 for the longer allele. A marked difference in serum ACE levels was observed between subjects in each of the three ACE genotype classes. Serum immunoreactive ACE concentrations were, respectively, 299.3 +/- 49, 392.6 +/- 66.8, and 494.1 +/- 88.3 micrograms/liter, for homozygotes with the longer allele (n = 14), and heterozygotes (n = 37) and homozygotes (n = 29) with the shorter allele. The insertion/deletion polymorphism accounted for 47% of the total phenotypic variance of serum ACE, showing that the ACE gene locus is the major locus that determines serum ACE concentration. Concomitant determination of the ACE genotype will improve discrimination between normal and abnormal serum ACE values by allowing comparison with a more appropriate reference interval.
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              Retinopathy in Diabetes

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                Author and article information

                Contributors
                Journal
                J Med Biochem
                J Med Biochem
                JOMB
                Journal of Medical Biochemistry
                Society of Medical Biochemists of Serbia, Belgrade
                1452-8258
                1452-8266
                05 June 2021
                05 June 2021
                05 June 2021
                : 40
                : 3
                : 302-309 (pp. 302-309)
                Affiliations
                [1 ] orgnameUniversity of Jordan, School of Medicine, Department of Physiology and Biochemistry, Amman, Jordan
                [2 ] orgnameUniversity of Jordan, School of Medicine, Department of Ophthalmology, Amman, Jordan
                [3 ] orgnameJordan University Hospital, Amman, Jordan + National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
                [4 ] orgnameNational Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
                Author notes

                Correspondence to: Queen Rania Street, Department of Physiology and Biochemistry, School of Medicine, The University of Jordan, Amman, Jordan 11942 d.abuhassan@ 123456ju.edu.jo

                Article
                jomb-40-3-2103302W
                10.5937/jomb0-27885
                8199535
                34177375
                bb14f195-3841-42a4-942f-b5bd7dc7b850
                2021 Abu-Hassan Diala Walid, Muawyah D. Al-Bdour, Mohammed El-Khateeb, published by CEON/CEES

                This work is licensed under the Creative Commons Attribution 4.0 License.

                History
                : 12 October 2020
                : 10 August 2020
                Funding
                Funded by: The Deanship of Scientific Research, the University of Jordan, Amman, Jordan 11942 (grant number 19/2015/2521);
                Categories
                Original Paper

                angiogenesis,complications,diabetes,polymorphism,retina,angiogeneza,komplikacije,dijabetes,polimorfizam,mrežnjača

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