Effects of two common promoter polymorphisms of transforming growth factor-beta1 on breast cancer risks in Ahvaz, West South of Iran

Background: Transforming growth factor-beta1 [TGF-beta1] has a critical role in breast cancer initiation and progression

Objectives: We have investigated the possible differences in two promoter polymorphisms [-509C/T and -800G/A] of TGF-beta1 gene between breast cancer cases and controls

Patients and Methods: A total of 100 patients with confirmed breast cancer and 100 subjects without breast cancer was selected. Two promoter polymorphisms [-509C/T and -800G/A] of TGF-beta1 gene were genotyped using PCR-based restriction fragment length polymorphism [RFLP] method

Results: The allele frequencies were 63% for C allele and 37% for T allele of SNP -509C/T and 66% for G allele and 34% for A allele of SNP -800G/A. Although no significant difference has observed between two groups, according to the genotype distribution, However, the TT genotype of -509 and AA genotype of -800 was significantly associated with breast cancer risk [odds ratio [OR] = 2.409; 95% confidence interval [CI] = 1.087 - 5.337, P = 0.030; and OR = 2.383; CI = 1.039 - 5.40, P = 0.040, respectively]. In addition, a multinomial logistic regression model shown, homozygous of -800 G/A [OR = 0.570; 95% CI = 0.362 - 0.896, P = 0.015]; and HDL-C [OR = 0.935; 95% CI = 0.906 - 0.965, P < 0.001] were the selected variables associated with the presence of breast cancer. Haplotype analysis has shown no significant association between TGF-beta1 haplotypes and breast cancer risk

Conclusions: Our results indicated that among two promoter polymorphisms of the TGF-beta1gene, -800G/A compared to -509C/T is more associated with breast cancer

Association of two common single nucleotide polymorphisms [SNPs +45T/G and +276G/T] of ADIPOQ gene with coronary artery disease in Type 2 Diabetic patients

Background: Adiponectin, an adipocyte-secreted hormone, is known to have anti-atherogenic, anti-inflammatory, and anti-diabetic properties. In the present study, the association between two common single nucleotide polymorphisms [SNPs] [+45T/G and +276G/T] of ADIOPQ gene and coronary artery disease [CAD] was assessed in the subjects with type 2 diabetes [T2DM]

Methods: Genotypes of two SNPs were determined by polymerase chain reaction-restriction fragment length polymorphism in 200 subjects with T2DM [100 subjects with CAD and 100 without CAD]

Results: The frequency of TT genotype of +276G/T was significantly elevated in CAD compared to controls [X2=7.967, P=0.019]. A similar difference was found in the allele frequency of +276G/T between two groups [X2=3.895, P=0.048]. The increased risk of CAD was associated with +276 TT genotype when compared to reference GG genotype [OR=5.158; 95% CI=1.016-26.182, P=0.048]. However, no similar difference was found in genotype and allele frequencies of SNP +45T/G between two groups. There was a CAD protective haplotype combination of +276 wild-type and +45 mutant-type allele [276G-45G] [OR=0.37, 95% CI=0.16-0.86, P=0.022] in the subject population

Conclusion: Our findings indicated that T allele of SNP +276G/T is more associated with the increased risk of CAD in subjects with T2DM. Also, a haplotype combination of +45G/+276G of these two SNPs has a protective effect on the risk of CAD

relationship between -2548 G/A leptin gene polymorphism and risk of breast cancer and serum leptin levels in ahvazian women

Potential association of leptin [LEP] gene polymorphisms has been suggested in the processes leading to breast cancer initiation and progression. We investigated whether genetic variations in the LEP -2548G/A gene are associated with risk of breast cancer. This case-control study consisted of 100 breast cancer cases and 100 control subjects without breast cancer that matched for age and body mass index [BMI]. Genotyping of LEP -2548G/A polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] assay. Serum leptin level was determined by ELISA in all study subjects. The genotype distributions [AA, AG, and GG] were 36, 55, and 9% in breast cancer cases and 52, 45, and 3% in control group, respectively. The frequency of LEP -2548 GG genotype was significantly elevated in breast cancer cases as compared to controls [chi2=6.90, p=0.032]. Similar difference was also found in allele frequencies between two groups [chi2=5.65, p=0.017]. A markedly increase risk of breast cancer was associated with the LEP -2548GG genotype when compared to the LEP -2548 AA genotype [OR=4.33, 95% CI=1.09-17.22]. In addition, postmenopausal women who bear at least one LEP -2548 G allele were at a markedly increased risk of breast cancer after adjusting for age and BMI confounders [OR=12.24, 95% CI=1.13-131.73]. The LEP -2548 G/A polymorphism is associated with markedly increased risk of breast cancer especially in postmenopausal Ahvazian women and supported the hypothesis that leptin is involved in breast cancer

[Serum levels of adiponectin in non-diabetic and diabetic obese individuals]

Adiponectin is an adipose tissue-derived hormone that low levels of this hormone are associated with obesity, insulin resistance, and type 2 diabetes. The aim of this study was to compare the serum levels of adiponectin in diabetic and non-diabetic obese individuals. As a cross-sectional study 35 obese individuals with type 2 diabetes mellitus and 35 non-diabetic obese subjects were enrolled. Two groups were matched for age, gender and body mass index. Fasting lipid profile was measured via the enzymatic methods. The Nyco Card HbA1c Kit was used to measure HbA1c. The Serum Adiponectin, insulin and glucose levels were measured via an enzyme immunoassay, using a commercially available kit and glucose oxidase methods, respectively. The HOMA and QUICKI indices were used to determine insulin resistance and insulin sensitivity, respectively. The mean of insulin resistance index [HOMA-IR], HbA1c, diastolic blood pressure, triglyceride and fasting glucose in diabetes were significantly higher than non-diabetics [P<0.05]. The serum Adiponectin levels was significantly lower in diabetes than non-diabetics [15.74 +/- 6.70 vs. 21.52 +/- 9.35] and was significantly higher in women than men [19.38 +/- 7.33 vs. 12.68 +/- 4.28] among diabetic and [24.63 +/- 10.52 vs. 17.83 +/- . 6.21] among non-diabetics groups. Type 2 diabetes mellitus is associated with low serum adiponectin concentrations and probably adiponectin involved in the pathophysiology linking obesity to type 2 diabetes