Emin ERDAL, Belgin ALAŞEHİRLİ, Savaş GÜRSOY, Ali AYDENİZ, Nuran ERDAL

Taq I polymorphism of the vitamin-D receptor gene and quality of life in postmenopausal Turkish women

Amaç: Postmenapozal osteoporozu olan kadınlardaki olası VDR gen polimorfızminin tanı, tedavi ve yaşam kalitesi üzerindeki etkilerini araştırmaktır. Yöntem ve Gereç: Yetmiş postmenapozal kadın hasta grubunu ve 71 postmenapozal sağlıklı kadın kontrol grubunu oluşturdu. Çalışmaya katılan tüm bireylerin kan örneklerinden genomik DNA izole edilerek VDR geninin Taq I polimorfizmi analiz edildi. Hasta grubuna salmon kalsitonin 200 IU (2 ay) ve alendronat 70 mg haftada, calcitriol 1 g/gün ve elementar calcium 1000 mg/gün verildi. Kontrol grubuna ise calcium 1000 mg ve 880 mg D vitamini verildi. Yaşam Kalitesi Nottingham Sağlık profili (NHP) ile değerlendirildi. Tedavi öncesi ve sonrası vertebra ve femur kemik mineral yoğunluğu DEXA yöntemi ile ölçüldü. Bulgular: Hasta ve kontrol grubunu genotip dağılımı sırası ile TT (% 28,6; % 42,3), Tt (% 62,8; % 40,8), tt (% 8,6; % 16,9) olarak saptandı. Çalışma grubunda Tt genotipleri kontrol grubuna oranla anlamlı olarak yüksekti. (P < 0.005). "TT ve Tt" genotiplerin dağılımına ilişkin gruplar arasında anlamlı bir fark saptanmadı. Ancak T allelini etkin olarak taşıyan olgularda, kemik BMD ve DEXA değerlerinin anlamlı olarak daha iyi olduğu gözlendi. Olguların tedavi öncesi ve sonrası yaşam kalitesi skorları arasında anlamlı fark olduğu gözlendi (p:0.001). Sonuç: "Tt" variantının hastalarda anlamlı olarak yüksek olduğu saptandı. Yaşam kalitesinin tedavi öncesi ve sonrası skorlarının da anlamlı olarak düştüğü gözlendi. T allelinin varlığının kemik BMD ve DEXA değerlerinde t alleline göre anlamlı olarak daha iyi olduğu gözlendi. Osteoporoz hastalarında VDR gen polimorfızminin saptanması, hastaların tanısında, tedavinin planlanmasında ve yaşam kalitesinin değerlendirilmesinde önemli olduğu kanısına varıldı.

Postmenapozal Türk kadınlardaki vit D reseptör genindeki Taq I polimorfizmi ve yaşam kalitesi

Aim: We aimed to assess vitamin-D receptor (VDR) gene polymorphism in postmenopausal osteoporotic Turkish women as well as the impact of this on diagnosis, treatment and quality of life. Materials and Methods: Seventy postmenopausal osteoporotic women and 71 postmenopausal healthy women constituted the disease and control groups, respectively. Genomic DNA was extracted from blood of all participants and analyzed for the Taql gene polymorphism of the VDR gene. The osteoporotic group was taking calcitonin, alendronate, calcitriol and elementary calcium, while the control group was taking only vitamin D and calcium. Quality of life of patients was measured by Nottingham Health Profile (NHP). Bone mineral density (BMD) was measured using DEXA method. Results: Genotype distribution of disease and control subjects, respectively, were as follows: TT (28.6%; 42.3%), Tt (62.8%; 40.8%), and tt (8.6%; 16.9%). Tt genotype was significantly higher in the study group (P < 0.005). There were no significant differences between the distribution of TT and tt genotypes between groups. However, BMD scores were significantly higher in the subjects with active T allele. There were also significant differences in before and after treatment NHP scores (p:0.001). Conclusions: Frequency of Tt variant was found higher in the disease group. The NHP score was significantly lower after treatment. Presence of T allele leads to higher BMD values than observed with t allele. The genetic variations with respect to polymorphism of the VDR gene may be important in determining the diagnosis, treatment outcome and quality of life in osteoporosis.

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