Postmenopozal osteoporoz hastalarında vitamin D reseptör ve kollajen tip1α1 gen polimorfizimleri

Amaç: Çalışmamızda, Çukurova bölgesinde, postmenopozal osteoporozlu hastalarda ve sağlıklı kadınlarda osteoporoz ile ilişkili aday genlerden VDR ve COL1A1 gen polimorfizmlerinin genotip ve allel sıklıkları ile biyokimyasal ve anatomik değişkenler arasındaki ilişkinin araştırılması amaçlanmıştır.Yöntem: Seksen dört postmenopozal osteoporotik hasta ve kırk beş kontrol bilgilendirilmiş onam alındıktan sonra çalışıldı. VDR geni için dört polimorfik restriksiyon alanı (ApaI, TaqI, BsmI ve FokI) ve COL1A1 geni için iki polimorfık restriksiyon alanı (Sp1 ve -1997 G / T) incelendi. Tüm çalışma grubu polimeraz zincir reaksiyonu-restriksiyon fragman uzunluğu polimorfizmi (PCR-RFLP) kullanılarak genotiplendirildi.Bulgular: Hastalar ve kontroller arasında VDR ve COL1A1 polimorfizm genotipleri, allel ve haplotip sıklıkları istatistiksel olarak anlamlı değildi. VDR geni için BsmI, ApaI ve TaqI polimorfizmleri ve COL1A1 geni için -1997G/T ve Sp1 polimorfizmleri arasında güçlü bir bağlantı vardır. VDR geninde en yaygın haplotipler, hastalar için “BAt” ve kontroller için “baT”, COL1A1 geni için “TG” haplotipi (aynı zamanda “TS”) her iki grupta da görülmüştür.Sonuç: VDR ve COL1A1 gen polimorfizmleri postmenopozal kadınlarda osteoporoza yatkınlık ve BMD'de anahtar rol oynar. Bulgularımız, VDR ve COL1A1 genlerinin polimorfizmlerinin postmenopozal Türk kadınlarında düşük BMD veya kırıklarla ilişkili olmadığını düşündürmektedir. 

Vitamin D receptor and collagen type1α1 gene polymorphisms in patients with postmenauposal osteoporosis

Purpose: The iam of this study was to investigate the genotype and allele frequencies of osteoporosis related candidate genes, VDR and COL1A1 and their relationship between biochemical and anatomic parameters in patients with postmenopausal osteoporosis and healthy women in the Cukurova region of Turkey.Materials and Methods: Eighty-four postmenopausal osteoporotic patients and fourty-five controls were recruited after obtaining informed consent. Four polymorphic restriction sites (ApaI, TaqI, BsmI and FokI) for the VDR gene and two polymorphic restriction sites (Sp1 and -1997G/T) for the COL1A1 gene were examined.  All subjects were genotyped employing polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results: The frequencies of VDR and COL1A1 polymorphism genotypes, alleles and haplotypes were not statistically significant between patients and controls.  The VDR gene BsmI, ApaI and TaqI polymorphisms, and the COL1A1 -1997G/T and Sp1 polymorphisms had a strong linkage disequilibrium.  The most common haplotypes were “BAt” for patients and “baT” for controls in the VDR gene, the “TG” haplotype (also “TS”) was the most common in two groups for COL1A1 gene.Conclusion: The VDR and COL1A1 gene polymorphisms play key roles in osteoporosis susceptibility and BMD in postmenopausal women. Our findings may imply that polymorphisms of the VDR and COL1A1 genes were not associated with low BMD or fractures in postmenopausal Turkish women.

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Cukurova Medical Journal-Cover
  • ISSN: 2602-3032
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1976
  • Yayıncı: Çukurova Üniversitesi Tıp Fakültesi