morteza bonyadi

To determine the possible association of rs4151667 (L9H) complement factor B (CFB) gene with age-related macular degeneration (AMD). The L9H is one of the functional variations of the CFB. CFB gene encodes the most important protein of the complement system.

Two hundred sixty-six patients with AMD and 194 unrelated age/sex-matched controls were genotyped for CFB gene (rs4151667) using the polymerase chain reactionerestriction fragment length polymorphism (PCR-RFLP) method. All research subjects were selected from three regions of Iran (Tehran, Tabriz, and Gonabad).

The results showed a significant difference between the frequency of non-TT genotype in total patients and controls [odds ratio (OR) ¼ 0.424, P ¼ 0.038]. The analysis for each studied region showed that in patients originating from the Gonabad population, the frequency of TT and non-TT genotypes between patients and the control group were significantly different (OR ¼ 2.894, P ¼ 0.046 for TT genotype and OR ¼ 0.346, P ¼ 0.026 for non-TT genotype). In patients originating from Tabriz population, TT and non-TT genotypes and A allele revealed considerably different frequencies between the patient and control groups (OR ¼ 3.043, P ¼ 0.017; OR ¼ 0.329, P ¼ 0.013 and OR ¼ 0.347, P ¼ 0.048, respectively). Analysis of patients from Tehran also showed that there was a significant difference in the frequency of TT genotype between patients and controls (OR ¼ 2.168, P ¼ 0.04).

The results of the current study indicated a possible protective role for non-TT genotype in L9H variation CFB gene against AMD in a sample of the Iranian population. The region segregation results showed that TT genotype might be a risk factor for susceptibility to AMD.

Vitamin D receptor (VDR) gene polymorphism has a role in susceptibility to risk of cancers. The aim of this study was to investigate the association of VDR gene polymorphisms with acute myeloid leukemia (AML).

In this case-control study, qualified patients diagnosed with AML and healthy adult subjects were selected. Four single nucleotide gene polymorphisms of VDR gene (BsmI, TaqI, FokI, and ApaI) were determined using polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) and the odds of having AML was determined by un-adjusted and adjusted logistic regression analysis.

One hundred and thirty-three AML patients and 300 healthy people were studied. There was significant association between the polymorphisms of FokI, and ApaI with increased risk of AML (P= .021, and P

This study showed for the first time that there is a significant association between VDR gene polymorphisms and odds of getting AML, similarly to many other solid tumors. Further studies on different ethnic population considering environmental factors that interact with genotypes are highly recommended.

Visceral thrombosis especially hepatic vein thrombosis deteriorates the disease in cirrhotic patients. Thrombophilic genotypes are seen in most cirrhotic patients with portal vein thrombosis. The aim of this study is the comparison of thrombophilic genes frequency in cirrhotic patients with splanchnic veins thrombosis versus cirrhotic patients without thrombosis.

In a case – control study, we studied 100 patients with hepatic cirrhosis in Tabriz Imam Reza hospital after achieving inclusion criteria in the form of two groups (with and without visceral veins thrombosis). The frequency of genetic polymorphism of thrombophilia in two groups of cirrhotic patients was assessed.

The mean age of the patients was 48.1±18.1 years which were in the range of 15 to 85 years. 51 (51%) of patients were male and 49 (49%) were female. Thrombosis was present in portal vein in 24% of patients, in superior mesenteric vein in 7% of patients, in splenic vein in 14% and in 5% of patients in potal and splenic veins. There was no significant difference between two groups in G20210A, C677T, A1298C and PAI-I genes polymorphism (P=0.82, P=0.70, P=0.78 respectively).

With regard to the non-significant difference in frequency of thrombophilic gene polymorphism in two groups, we cannot assume prophylactic actions in cirrhotic patients for visceral vein thrombosis but we recommend more multicentric studies with more number of cases for clarifying the topic.