Polymorphisms of lipid metabolism enzyme-coding genes in patients with diabetic dyslipidemia.

OBJECTIVE: The polymorphisms/mutations of genes encoding proteins and enzymes involved in lipoprotein metabolism play important roles in the development of diabetic dyslipidemia. The aim of our study was to investigate the effects of LPL (rs320), LIPC (rs2070895), SCARB1 (rs5888), LCAT (rs2292318), CETP (rs708272), ADIPOQ (rs1501299), RETN (rs3745367), PON1 (rs662), and MNSOD (rs4880) gene polymorphisms on lipid metabolism and diabetic dyslipidemia. METHODS: This case-control study included 217 patients with diabetic dyslipidemia and 212 healthy age- and gender-matched individuals. Genomic DNA isolation was performed from blood samples, and genotype analysis was performed using melting curve analysis on a LightCycler® 480 Instrument. The chi-square test was used to compare genotype distribution and allele frequencies between the groups. RESULTS: Significant associations were observed between LPL (rs320) (p<0.001), LIPC (rs2070895) (p<0.001), SCARB1 (rs5888) (p<0.001), LCAT (rs2292318) (p<0.001), CETP (rs708272) (p<0.001), ADIPOQ (rs1501299) (p=0.01), RETN (rs3745367) (p<0.001), and MNSOD (rs4880) (p<0.001) polymorphisms and diabetic dyslipidemia. However, no association was observed between PON1 (rs662) polymorphisms and diabetic dyslipidemia (p=0.611). CONCLUSION: LPL (rs320), LIPC (rs2070895), SCARB1 (rs5888), LCAT (rs2292318), CETP (rs708272), ADIPOQ (rs1501299), RETN (rs3745367), and MNSOD (rs4880) polymorphisms play an important role in basic molecular metabolism in diabetic dyslipidemia. Therefore, these polymorphisms may be used as a predictive marker for diabetic dyslipidemia in high-risk patients.

An Association Study Between Gene Polymorphisms of Folic Acid Metabolism Enzymes and Biochemical and Hormonal Parameters in Acromegaly.

AIM: Folate metabolism is fundamental to several biological functions and required for cell replication, division, and survival. The mammalian folic acid cycle is highly complex and the enzymes, methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR), have crucial roles in this metabolic pathway. The common polymorphisms of the MTHFR (C677T and A1298C), MTRR (A66G), and MTR (A2756G) enzymes are well documented as folate deficiency-related disorders, but their roles have not been examined in acromegalic patients. The aim of this study was to compare the genotypic distribution of these gene polymorphisms between patients with acromegaly and controls and explore whether these polymorphisms were associated with biochemical and hormonal parameters in acromegaly. We examined 91 acromegaly patients and 112 healthy subjects who were compared in terms of age and gender. Blood specimens of the subjects were collected in tubes containing ethylenediaminetetraacetic acid. Genomic DNA was isolated from peripheral blood leukocytes and genotyping of the MTHFR (C677T and A1298C) gene polymorphisms was assessed by melting temperature analyses after real-time polymerase chain reaction (PCR), whereas MTRR A66G and MTR A2756G gene polymorphism analyses were performed by PCR/restriction fragment length polymorphism from the isolated DNA of the subjects. RESULTS: MTHFR-677TT genotype frequency was significantly higher in the acromegaly group than the control group (p=0.017), and a significant increase was found in fibrinogen (p=0.032) levels in 677TT-carrying acromegaly patients. MTRR-66AA genotype was significantly higher in the control group than the acromegaly group (p=0.004). Total cholesterol (p=0.048) and C-reactive protein (p=0.046) levels decreased significantly in 66AA genotypes. Although MTR-2756AG genotype frequency was not different between the control and acromegaly groups, 2756AG genotype-carrying individuals have higher left carotid intima-media thickness levels within the patient group. CONCLUSION: Our results suggest that polymorphisms of the genes encoding the folic acid metabolism enzymes affect biochemical parameters in acromegaly and this may result in predispositions to some complications associated with folate metabolism and acromegaly.

Is there any association between the Ser326Cys polymorphism of the 8-oxoguanine glycosylase 1 (OGG1) gene and risk of colon polyp and abnormal glucose tolerance in acromegaly patients?

AIM: Evidence arising from experimental studies indicates an association between increased levels of the growth hormone/insulin-like growth factor 1 and oxidative stress. The association of the Ser326Cys polymorphism in the 8-oxoguanine glycosylase (OGG1) gene with a colon carcinoma and diabetes mellitus has been examined. The aim of the study was to compare the genotypic distribution of OGG1 Ser326Cys between acromegaly patients and nonacromegalic subjects and to explore whether this polymorphism is associated with a colon polyp risk and abnormal glucose tolerance. METHODS: We examined 98 acromegaly patients, and 99 healthy subjects who can be compared in terms of age and gender. All participants were evaluated by anthropometric and biochemical measurements. Also, a 75-g oral glucose test and colonoscopy was applied to the patients. Genomic DNA was isolated from peripheral blood leucocytes and the genotype was assessed by melting temperature analyses after using a real-time polymerase chain reaction protocol. RESULTS: Colon polyps were detected in 13 (30.2%) of 43 patients who underwent the colonoscopy. Except for diastolic blood pressure, clinical and biochemical characteristics were similar between the patients diagnosed with and without a colon polyp. A higher proportion of acromegaly patients had the Ser326Ser genotype when compared to the control group (p=0.007). Genotypes were similar between the patients with a normal glucose tolerance and an abnormal glucose tolerance (p=0.774). The frequency of the Cys allele was significantly higher in patients with polyps than those without a polyp (38.5% vs. 18.3%) (p=0.029). CONCLUSION: Our results suggest that the Cys allele may influence the colon polyp risk in acromegaly patients. Large-scale studies with acromegaly patients are required to show whether being a carrier of the Cys allele is associated with the risk of a colorectal polyp.

Miscarriage, and TNF-α and osteopontin relationship in women patients with Hashimoto's thyroiditis.

OBJECTIVE: Infertility and reproductive impairment can be compromised by abnormalities in both endocrine and immune system. TNF-α promotes apoptotic cell death in fetal membrane tissues and pro-inflammatory, proapoptotic, and procoagulant properties of TNF-α probably contribute to widely accepted abortogenic profile of this cytokine. The aim of this study was to assess the alteration in the levels of TSH, FT3, FT4, TNF-α, osteopontin in pregnant and controls. METHODS: Study subjects were 28 pregnant women, 28 non-pregnant women, and 28 healthy controls. All subjects underwent venous blood drawing for levels of TNF-α, osteopontin, and also hormonal assays including the levels of anti-TPO, anti-TG antibodies, TSH, FT3, FT4. RESULTS: Both patient and control groups are similar in terms of age. Pregnancy age in conceived patients is 23.64 ± 2.040. No statistically meaningful relation was found in correlation analysis between TNF-α and osteopontin among the groups (p = 0.963). Anti-thyroglobuline antibody and anti-microsomal antibody levels were found to be higher in patients with non-pregnant patients with Hashimoto thyroiditis than the control group (p < 0.001). No statistically meaningful relation was found in terms of TNF-α (p = 0.66) and osteopontin serum levels (p = 0.50) in patient groups with or without miscarriage history. CONCLUSIONS: In our study, no statistically meaningful relation was found in terms of TNF-α and osteopontin serum levels in patient groups with and without miscarriage history.

Does Apolipoprotein E genotype affect cardiovascular risk in subjects with acromegaly?

Acromegaly is a syndrome that results when the pituitary gland produces excess growth hormone after epiphyseal closure at puberty. Usually, subjects with acromegaly exhibit a 2- to 3-fold higher mortality rate from diseases that are associated with cardiovascular complications when compared to the normal population. In this study, we therefore aimed to evaluate whether a well-established cardiovascular risk factor, the Apolipoprotein E (Apo E) genotype, contributes to increased risk of cardiovascular complications in subjects with acromegaly. A total of 102 unrelated acromegaly subjects were prospectively included into this case-control association study and constituted our study group. The study group was comparable by age and gender with 200 unrelated healthy subjects constituting our control group. Genomic DNA was isolated from the peripheral blood leukocytes of all subjects and Apo E genotype (codon 112/158) was assessed by melting temperature analyses after using a real-time PCR protocol. The Apolipoprotein E4 allele was found at a significantly higher frequency in the study group when compared with the control group (P = 0.032). Subjects with the E2 allele, on the other hand, had significantly increased values in body mass index (P = 0.004), waist circumference (P = 0.001), C-reactive protein (CRP) (P < 0.001), and left-side carotid intima media thickness (P = 0.025). The Apolipoprotein E2 genotype might contribute to increased risk of cardiovascular complications in subjects with acromegaly since it is concurrently present with other cardiovascular risk factors such as the left-side carotid intima media thickness and CRP.

Methylenetetrahydrofolate reductase C677T gene polymorphism in Turkish patients with polycystic ovary syndrome.

Higher Levels of Hcy are associated with several clinical conditions, among them non-insulin-dependent diabetes mellitus, endometrial dysplasia and hypertension with insulin resistance, and polycystic ovary syndrome. The purpose of this study was to investigate the serum homocystein levels and other metabolic parameters in relationship with the MTHFR C677T gene polymorphism in patients with PCOS. Our study included 86 young women with PCOS constituting the study group and 70 healthy women constituting the control group. Homocystein levels, metabolic, and hormonal parameters were measured, and genetic analysis of the MTHFR C677T gene polymorphism was performed in all the subjects. A statistically significant difference was observed in mean homocystein levels between patients with PCOS when compared to the control group. The MTHFR 677 CC genotypes had significantly higher proportions in the control group compared to the PCOS patients (χ(2) = 21.381, P < 0.001). Our data show that homocystein levels were higher than normal subjects in patients with PCOS and that the MTHFR C677T gene polymorphism does not influence homocystein levels of patients with PCOS.

Hypothyroid Hashimoto's thyroiditis with scintigraphic and color flow doppler sonography features mimicking a hot nodule.

We report a 59-year-old woman who had Hashimoto's thyroiditis (HT) with hypothyroidism. A solid hypervascularized nodule in the right lobe was detected by color flow doppler sonography (CFDS). Thyroid (99m)Tc pertechnetate scintigraphy revealed a hot area in the right lobe. After three months, thyroid function tests also revealed hypothyroidism and (131)I scintigraphy was similar to the previous scintigraphy. No nodular or hypervascularized lesion in the right lobe could be identified at the sixth month of L-T4 substitution therapy. In conclusion, HT may present as a single hot nodule and hypothyroidism. Imaging findings of HT should be carefully evaluated for the precise diagnosis.

Apolipoprotein E gene polymorphism and polycystic ovary syndrome patients in Western Anatolia, Turkey.

PURPOSE: Dyslipidemia, cardiovascular disease and hypertension are more frequently seen in patients with PCOS than in normal patients. We aimed at evaluating the distribution of Apo E alleles that can influence cardiovascular risk of the PCOS patients and control subjects. METHODS: In this study, 129 young women with PCOS and 91 healthy women were included. In all subjects we performed hormonal, biochemical and Apo E genetic analysis. RESULTS: The Apo E3 allele was found at a significantly higher frequency in the PCOS patient group compared with the control group. The Apo E2 allele was found at a significantly higher frequency in the control group compared with the patient group with PCOS. CONCLUSIONS: Although there were genotype and allele differences between control and patient groups in this study, no statistically significant change was determined in lipid and other cardiovascular risk factors in connection with allele and genotype.

Does Chernobyl accident have any effect on thyroid cancers in Turkey? A retrospective review of thyroid cancers from 1982 to 2006.

Besides the genetic and environmental factors, radiation is an important aetiological cause in the occurrence of thyroid cancer (TC), particularly papillary carcinoma. Chernobyl disaster led to a dramatic increase in the frequency of TC in Eastern Europe. We aimed to determine the data of TC in our unit from 1982 to 2006 and whether Chernobyl disaster has a possible effect on TC distribution. The data of 351 patients with TC are reviewed retrospectively. The dates at diagnosis were classified in five time periods. The ratios of TCs in our unit were concordant with the literature. Comparing the five 5-year periods, there was a significant decrease in the ratio of follicular carcinoma (p<0.01) although the ratio of other thyroid cancers did not change (p>0.05). The ratio of papillary microcarcinoma increased (p<0.01) while the ratio of classical form decreased (p<0.01). The differences between the time periods and the mean ages at diagnosis for each TCs were not significant (p>0.05). If Chernobyl disaster had any effect, the mean age at diagnosis would be younger. The decrease in the ratio of follicular carcinoma in our study may be due to iodine supplementation. The higher ratio of papillary microcarcinoma can be related to increased diagnostic scrutiny. Epidemiological studies are necessary to determine TC incidence in Turkey.

Exudative pleural effusion due to brucellosis in a patient with chronic obstructive pulmonary disease.

Pleural involvement is a rare presentation of brucellosis. We report a patient referred for the evaluation of fever, right-sided pleural effusion and hilar lymph node enlargement. The pleural fluid revealed exudative characteristics with the predominance of neutrophils. Brucella melitensis was isolated from bone marrow, pleural effusion and blood cultures. The diagnosis was also confirmed by demonstration of a high Brucella agglutinin titre. The patient was successfully treated with rifampicin and doxicycline for three months.