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Nephrotic syndrome is the most prevalent glomerular disease in childhood. This study illustrates distribution of the most common three multidrug resistance gene 1 MDR1 (ABCB1) exonic polymorphisms G3435C, G2677 T/A, and C1236T in children with NS to assess their ability to be used as markers for response of NS to steroids. This study aimed to find association between ABCB1 gene polymorphisms and haplotypes and NS and if they can affect their response to steroids. ABCB1 gene polymorphisms in our cases were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Our cases were divided into three groups: one group included 50 steroid sensitive nephrotic syndrome (SSNS) patients, another group included 100 steroid resistant nephrotic syndrome (SRNS) patients, and the third group for 100 age and sex-matched children (control group). ABCB1 C3435T TT, CT + TT genotypes, T allele; ABCB1 G2677A/T GT + GA, TT + AA, GT + GA + TT + AA genotypes, T + A allele frequencies were significantly higher in patients with NS compared to control group. Also, SRNS group showed significantly more frequencies of ABCB1 G2677A/T GT + GA, TT + AA, GT + GA + TT + AA genotypes, T + A allele than SSNS group. TTT + TAT, TTC + TAC haplotype of ABCB1 was also higher in NS patients compared to healthy control subjects. We found that the associations of ABCB1 G2677T/A and C3435T polymorphisms were observed in patients with NS. The ABCB1 G2677 T/A polymorphism was significantly increased in SRNS when compared to SSNS.

Diabetes mellitus (DM) is an inherited disease, which can affect every organ in the body. 8-hydroxydeoxyguanosine (8-OHdG) is a biomarker for oxidative DNA damage. Occurrence of C-106T polymorphism of the aldose reductase (ALR) gene in type II diabetic patients suffering from diabetic microvascular complications has been reported. The aim of the present work was to assess the association between oxidative stress and C(-106)T ALR gene polymorphism and the incident of type 2 diabetes (T2D) and its complications. The current study was conducted on 200 subjects classified into 150 T2D patients and 50 healthy control subjects. Quantitative determination of human 8-OHdG was done using enzyme-linked immunosorbent assay (ELISA) technique. ALR C(-106)T polymorphism was assessed by PCR/RFLP method. Levels of 8-OHdG were significantly increased in diabetic patients when compared to control subjects and in diabetic patients with complications when compared to those without complications (P

Cytokines play a main role as progressive factors in nephrotic syndrome (NS). Tumor necrosis factor alpha (TNFα) produced by activated macrophages is often accompanied by pro inflammatory properties. Some cytokine gene polymorphisms like TNFα have associated with various inflammatory diseases as glomerulonephritis. The aim of the current work was to investigate the serum level of TNFα and the association between TNFα G308A polymorphism and the response to steroid therapy in nephrotic syndrome. This study was conducted on 250 subjects, 100 healthy children, 50 steroid sensitive nephrotic syndrome (SSNS), and 100 steroid resistant nephrotic syndrome patients (SRNS). Serum concentration of TNFα was measured by enzyme-linked immunosorbent assay (ELISA) technique and TNFα-G308A gene polymorphism was estimated by polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Serum concentrations of TNFα significantly increased in SRNS cases when compared to SSNS subgroups. TNF GA, AA, GA + AA genotypes and A allele showed significant association with risk of NS development within healthy control subjects. TNFα-G308A genotypes and alleles did not differ significantly between SSNS and SRNS groups.

Thyroid hormones affect the development and physiology of the kidneys. Hypothyroidism and hyperthyroidism affect glomerular filtration rate (GFR), tubular function, renal blood flow, and structure of the kidney. Cystatin C is a non-glycosylated neuroendocrine protein. It is freely filtered at the glomerulus and completely reabsorbed and catabolized by cells of tubules. Cystatin C levels, affected by the thyroid state, is being increased in hyperthyroidism and decreased in hypothyroidism. The current study was conducted on 66 patients of thyroid disorder and 21 healthy control subjects. Total T3, total T4, and TSH were measured by cobas e 411. Human Cystatin C was measured using ELISA kit based on sandwich enzyme-linked immunosorbent assay. Cystatin C was significantly increased in both total hyperthyroid and clinical hyperthyroid groups as compared to control (p

Breast cancer (BC) is a common cancer among women, especially in developing countries. Circulating serum 25-hydroxyvitamin D [25(OH)D] is the key factor that regulates tissue synthesis of the active form 1,25-dihydroxyvitamin D [1,25(OH)2D]. 1,25(OH)2D has anticarcinogenic properties against breast cancer via binding to vitamin D receptors (VDRs). One of the common VDRs gene polymorphism which is located at the 3′ end of VDR gene is the Bsm-I gene polymorphism (rs1544410). Certain VDRs polymorphisms are associated with obesity and show relation to breast cancer risk. The current study was conducted on 60 breast cancer females and 30 healthy control subjects of matched age. Total serum 25(OH) vitamin D was measured using enzyme-linked immunosorbent assay (ELISA) technique. Vitamin D receptor VDR–Bsm1 gene polymorphism was assessed by PCR/RFLP method. Levels of 25(OH) vitamin D were significantly decreased in total, overweight, and obese BC patients in comparison to control group (p = 0.002