Recent findings indicate that certain cytokines are capable of interfering with insulin sensitive glucose uptake and induce insulin resistance. To test for the association of IL-10-1082 and IL-6-174 Key words: IL-10, IL-6, gene polymorphism, type 2 diabetes, Egypt Mısır'lı Hastalarda Tip 2 Diyabet ile IL-10 ve IL-6 Gen Poliformizmi Arasındaki İlişki ÖZET Son yıllarda bazı sitokinlerin insülin duyarlı glikoz alınımı ile ilişkiye girebilme ile birlikte insülin direnci meydana

Background. The goal of the study is to investigate the association of IL-4-590 and IL-13-1112 genetic polymorphisms with type 2 diabetes mellitus (T2DM) in Egyptian patients. Subjects and Methods. The study included 135 cases with T2DM and 75 healthy unrelated age-matched controls from the same locality of Egypt. DNA was extracted and processed by the ARMS-PCR technique for characterization of genetic variants of IL-4-590 C>T and IL-13-1112 C>T polymorphisms. Results. Egyptian cases with T2DM showed a lower frequency of the IL-4-590 CC homozygous genotype compared to controls (10.4% versus 43.48%) with a higher CT heterozygous genotype (85.2% versus 47.8%). Similarly, cases showed a lower frequency of the IL-13-1112 CC genotype (20.7% versus 56.8%) with a higher frequency of the heterozygous IL-13-1112 CT genotype (76.3% versus 41.3%). Both polymorphisms showed significantly positive associations with T2DM in the dominant, codominant, and overdominant models of inheritance. On the other hand, comparing genotypes of subgroups related to gender, positive family history, and positive consanguinity showed a nonsignificant difference (P > 0.05). Conclusion. Heterozygous genotypes (IL-4-590 CT and IL-13-1112 CT) could be considered as risk factors, while the homozygous wild types (-590 CC and -1112 CC) might be considered protective to T2DM.

The above-mentioned clinical data in the two affected sibs together with the family history of end-stage renal disease associated with nephrocalcinosis and high myopia suggested a diagnosis of FHHNC, which was confirmed for the first time in an Egyptian family by a novel mutation in exon 1 of the CLDN16 gene. Genitourinary associations with FHHNC have not yet been reported in the literature. Here, we will try to highlight the principles of mutation detection based on sequencing with the use of the online NCBI databases, statistics and other search tools.

Background: Type 2 diabetes mellitus is the most frequent type of diabetes. It is caused by insulin resistance and often combined with symptoms of progressive defect in insulin secretion. Various factors have been implicated in the pathogenesis and complications of type 2 diabetes mellitus (T2DM), of which, immune response and inflammation were suggested to play a role. Objective: To investigate the association of IL-4-590 and IL-13-1112 genetic polymorphisms with (T2DM) in Egyptian patients. Subjects and Methods: The study included 135 cases with type 2 DM (65 males and 70 females), with a median age of 56 years and 101 healthy unrelated controls from Nile Delta region, Egypt. DNA was extracted by purification Capture column kit supplied by Fermentas, K0721, USA. Polymorphisms of IL-4-590(C>T) and IL-13-1112(C>T) genes were characterized using ARMS-PCR technique. Results: The frequency of heterozygous (CT) genotype of IL-4-590 was significantly increased in type 2 diabetic patients compared to the control, CT genotype of IL-13-1112 was highly significantly increased in diabetic patients compared to control (85.2 vs.66.3, OR=2.9, p=0.001; 76.3 vs.51.5, OR=3' p= 0, respectively). The frequency of the homozygous (CC) genotypes of both IL-4 and IL-13 were significantly lower in type 2 diabetic patients than in the control group

Middle East Journal of Medical Genetics 2012, 1:71-75 assessment of any similar case, especially those with novel truncating CTNS mutations.