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Hyperandrogenism is the most common endocrine disorder in women, characterized by an imbalance of normal estrogen and androgen levels in the blood. Androgens play an important role in the female body because they influence bone mineral density (BMD), body mass composition, muscle mass, mental state, and the regulation of sexual function. The reduced activity of aromatase, due to mutations in the CYP19A1 gene, reduces the estrogen pool in favor of androgens. Clinically, aromatase deficiency causes hyperandrogenism in women. Therefore, the aim of the study was to assess the effect of the CYP19A1 gene polymorphism on selected markers of bone metabolism and hormonal parameters in women with hyperandrogenism. The study group was comprised of 80 young women with hyperandrogenism who underwent measurements of bone mineral density (BMD), and determination of hormonal and metabolic parameters. Enzyme immunoassays were used to measure leptin, total sRANKL (free and bound RANKL), osteoprotegerin, and total 25-OH Vitamin D. An analysis of the CYP19A1 gene polymorphisms was performed using the real-time PCR method. The GG genotype of the CYP19A1 rs700518 polymorphism turned out to be associated with: FEI (Free Estradiol Index), SHGB concentration, estradiol concentration, and insulin concentration determined in the glucose tolerance test 60' compared to AG and AA genotypes. Patients with the AG genotype had a higher ratio of android to gynoid fat and a greater content of visceral adipose tissue. Higher visceral tissue content may reduce BMD. In conclusion, the study showed that the CYP19A1 rs700518 polymorphism may be associated with the distribution of adipose tissue in young women with hyperandrogenism. These results suggest that patients with the AG genotype may develop osteoporosis. [ABSTRACT FROM AUTHOR]

Colorectal cancer (CRC) is one of the most common malignancies in Poland. Based on the findings of clinical trials, it is safe to conclude that genetic predisposition and environmental factors are the main factors responsible for the formation of colorectal cancer.The NQO1 gene plays an important role in reducing endogenous and exogenous quinones as well as quinone compounds to hydroquinones. It is an enzyme which is a part of the body's antioxidant defense system. The aim of the study was to evaluate the correlation between the 609C > T polymorphism of the NQO1 gene and colorectal cancer risk in the Polish population. A total of 512 people were recruited for the study, including 279 patients with colorectal cancer, diagnosed at the University Hospital, Pomeranian Medical University in Szczecin. Genomic DNA was isolated from peripheral blood and the analyzed polymorphism was determined by PCR-RFLP. In the present study, we analyzed the clinical valuesand frequency of NQO1 609C > T polymorphism in patients diagnosed with colorectal cancer and controls. In case of the carriers of the TT genotype of the NQO1 polymorphism, an elevated risk for colorectal cancer was observed (OR = 2.96; 95% CI: 1.02–10.40). The analysis of the clinical parameters concerning the location and characteristics of the tumor stage revealed a statistically significant increase in the risk for colorectal cancer in the carriers of the TT genotype of the NQO1 polymorphism. [ABSTRACT FROM AUTHOR]

Objective: Osteoporosis is a civilization disease, in which the dominant symptoms are the loss of bone mass and disturbances in bone structure. Gremlin-2 is one of the BMP (bone morphogenetic proteins) antagonists and participate in osteogenesis and osteoblast differentiation. The aim of the study was to analyze whether the GREM2 gene polymorphism is significantly more common in postmenopausal women than in healthy women and whether it is a predisposing factor for the osteoporosis development.Study Design: The study consisted of 675 unrelated Polish postmenopausal women, including 109 with osteopenia, 333 with osteoporosis and 233 healthy women. The effect of the GREM2 polymorphism on T-score, Z-score, L2L4AM, L2L4YA, L2L4BMD, body mass, BMI, birth weight was statistically evaluated.Results: Statistical significance was observed between the TT and TC genotypes and also between TT and CC genotypes in the case of birth weight in the control group and the group of women with osteoporosis. Analysis of body mass in women with osteoporosis showed the statistical significance between genotypes TT and CC, TT and TC. Analysis of the frequencies of TT, TC and CC genotypes of the rs4454537 polymorphism of the GREM2 gene showed no statistical significance between studied groups.Conclusion: Our study found that the most frequent genotype in the group of women with osteopenia and osteoporosis was TC while in the group of healthy women the protective TT genotype was dominant. Hence, it can be postulated that the TT genotype is a protective factor against the development of osteoporosis. [ABSTRACT FROM AUTHOR]