دراسة التعدد الشكلي لجين مستقبل الفيتامين د باستخدام إنزيم BsmI لدى مرضى سوريين مصابين بالداء السكري من النمط الأول و لدى أفراد أصحاء

الملخص EN

Type I diabetes (T1D) is a multi-factorial disease, and it is a result of interactions between genetic and environmental factors that lead to autoimmune response to pancreatic β cells antigens.

Vitamin D receptor is expressed in many types of immune cells, that is involved in T1D pathogenesis and known for its effects on cytokines responses.

A lot of studies have confirmed an association between vitamin D receptor BsmI gene polymorphism and T1D.

The study aimed to test an association between VDR BsmI polymorphism and the genetic susceptibility to type 1diabetes in Syrian population.

55 patients with type 1diabetes and 50 controls were genotyped for the BsmI single nucleotide polymorphism by polymerase chain reaction and restriction fragment length polymorphism analysis.

The b allele frequency was higher in patients group (71) than in controls (46), whereas the B allele frequency was higher in controls (54) than in patients (39), and this difference in distribution between patients and controls was statistically significant (x2=7.302, P=0.007).

Our study showed that the b allele is related with type 1 diabetes mellitus in Syrian population.