Çocuklarda vitamin D reseptör 3'- UTR T/C taq 1 gen polimorfizmi ile tekrarlayan taş hastalığı arasındaki ilişki
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Date
2006
Authors
Seyhan, Serkan
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Üriner sistem taş hastalığının (ÜSTH) güçlü bir ailesel komponenti vardır. Bununla birlikte, bugüne kadar, spesifik bir genetik anormallik belirlenememiştir. Bazı çalışmalar D vitamini reseptör (VDR) geninin allel varyasyonlarının, kalsiyum absorbsiyonunu ve ekresyonunu etkileyebileceğini ileri sürmektedir. ÜSTH ,başlangıcında ve şiddetinde hem genetik hem de çevresel faktörlerin rol oynadığı multifaktöriyel bir hastalıktır. Bu genin polimorfizmi, D vitamini aktivitesinin değişmesine neden olmaktadır. Osteoporoz ve kanserde olduğu belirtilmiştir. Bu çalışmada D vitamini reseptör (VDR) geni TaqI polimorfizminin ÜSTH'daki rolü araştırılmıştır. Gereç ve Yöntem: Üriner taşı olan 80 hasta ve 40 kişilik kontrol grubuyla çalıştık. Polimorfizm bölgelerinin amplifikasyonu, polimeraz zincir reaksiyonu ile yapıldıktan sonra TaqI restriksiyon enzimleri ile sindirilerek elektroforezde analiz edildi. Genotipve allel frekansları hesaplanarak, bunların ÜSTH, aile öyküsü ve taş tekrarlama olasılığı ile ilişkisi araştırıldı..Sonuçlar: TaqI tt genotiplerinin insidansı, tekrarlayan taş düşürme öyküsü olan grupta, kontrol grubundakilere göre anlamlı şekilde daha yüksekti. TaqI t alleli ciddi taş hastalığı riskini arttırıyordu. tt genotipli hastaların Tt/TT genotipli hastalara göre tekrarlayan taş hastalığı riski artmış olarak bulundu. Ayrıca çalışmamızda TaqI polimorfizmi, pozitif aile hikayesi ve tekrarlayan taş hastalığı arasında bir ilişki bulunamadı. Yorum: VDR geni TaqI t alleli ciddi taş hastalığı ve tekrarlayan taş hastalığı için bir risk faktörü olabilir.
Urolithiasis has a strong familial component. However, to date, no specificgenetic abnormality has been identified. In some studies, it has been that allelicvariation in vitamin D receptor (VDR) gene may affect calcium absorption andexcretion. Urolithiasis is a multifactorial disease in which both genetic andenviromental factors has an impact on onset and severity of disease. Polymorphismof this gene has been associated with altered vitamin D activity and has beenimpilcated in osteoporosis and prostate cancer. In the present study, the role of TaqIpolymorphysm of vitamin D receptor gene in urolithiazis was studied.Materials and Methods: 80 patients with urolithiasis and 40 controls were enrolled.Polymorphic sites were amplified by polimerase chain reaction, digested with TaqIrestriction enzymes and analyzed by gel electrophoresis. Allelic or genotypicfrequencies was calculated and associations between them and urolithiasis, familyhistory and stone recurrence were evaluated.Results: Incidence of TaqI tt genotypes was significiantly higher in patients withrecurrent stone, compared to the controls. TaqI t allel was associated with increasedrisk of severe urolithiasis. In patients with tt genotype compared to those with TT/Ttgenotype, stone recurrence risk was found to be higher. In addition, no associationbetween TaqI polymorphysm and a positive family history and recurrrent stonedisease was found in the present study.Comment: TaqI t allel of VDR gene may be a risk factor for severe urolithiasis andrecurrent stone disease.
Urolithiasis has a strong familial component. However, to date, no specificgenetic abnormality has been identified. In some studies, it has been that allelicvariation in vitamin D receptor (VDR) gene may affect calcium absorption andexcretion. Urolithiasis is a multifactorial disease in which both genetic andenviromental factors has an impact on onset and severity of disease. Polymorphismof this gene has been associated with altered vitamin D activity and has beenimpilcated in osteoporosis and prostate cancer. In the present study, the role of TaqIpolymorphysm of vitamin D receptor gene in urolithiazis was studied.Materials and Methods: 80 patients with urolithiasis and 40 controls were enrolled.Polymorphic sites were amplified by polimerase chain reaction, digested with TaqIrestriction enzymes and analyzed by gel electrophoresis. Allelic or genotypicfrequencies was calculated and associations between them and urolithiasis, familyhistory and stone recurrence were evaluated.Results: Incidence of TaqI tt genotypes was significiantly higher in patients withrecurrent stone, compared to the controls. TaqI t allel was associated with increasedrisk of severe urolithiasis. In patients with tt genotype compared to those with TT/Ttgenotype, stone recurrence risk was found to be higher. In addition, no associationbetween TaqI polymorphysm and a positive family history and recurrrent stonedisease was found in the present study.Comment: TaqI t allel of VDR gene may be a risk factor for severe urolithiasis andrecurrent stone disease.
Description
Keywords
Vitamin D reseptör, Ürolityazis, Polimorfizmi, Vitamin D receptor, Urolithiasis, Polymorphismi
Citation
Seyhan, S. (2006). Çocuklarda vitamin D reseptör 3'- UTR T/C taq 1 gen polimorfizmi ile tekrarlayan taş hastalığı arasındaki ilişki. Yayınlanmamış uzmanlık tezi. Uludağ Üniversitesi Tıp Fakültesi.