Familial Mediterranean fever (FMF), which is an autosomal recessive disease, is characterised by recurrent febrile episodes in association with peritonitis, pleuritis and arthritis and has ongoing ...subclinical inflammation during attack-free period. In this study, we aimed to investigate the relationship between FMF with neutrophil-to-lymphocyte ratio (NLR), which is determined in many chronic inflammations as a new potential inflammatory mediator. We included 62 patients and 41 healthy subjects who were similar in terms of age and sex. We found that the NLR values of the patients were significantly higher than those of the control group, and C-reactive protein values were correlated with NLR. Another finding was the NLR values were significantly higher in the FMF patient with M694V mutation than with other mutations. As a result, NLR might be used in the FMF patient as an indicator of the subclinical inflammation, and the FMF patients with M694V mutation should be followed up closely because of increased subclinical inflammation risk.
Purpose
The study aimed to investigate the effect of metformin treatment on leukocyte telomere length (LTL) and the relationship of LTL with C-reactive protein (CRP), homocysteine, albumin, complete ...blood count, and HOMA-IR values in patients with polycystic ovary syndrome (PCOS).
Material and method
A prospective case–control study consisting of 30 women with PCOS and 30 healthy women without PCOS was performed. The relationship between clinical and laboratory parameters and LTL was analyzed. PCOS patients were treated with metformin (850 mg/day) for three months. Before treatment (BT) and after treatment (AT), each patient’s LTL was evaluated and compared with the control group.
Results
In the comparison between PCOS and control groups, the difference was significant for LTL, age, body mass index (BMI), and CRP (
p
= 0.002;
p
< 0.001;
p
= 0.001;
p
= 0.01, respectively). In PCOS patients, the difference between BT and AT, LTL was not statistically significant (BT: 6.06 ± 2.12; AT: 6.30 ± 1.93;
p
= 0.623; 95% C.I: − 1.22–0.74); however, the difference for weight was significant (BT: 83.78 ± 15.31; AT: 80.62 ± 15.40;
p
= 0.02; 95% CI: 1.34–4.99). The logistic regression model established by BMI (group 1: 21–24, group 2: 24–29, group 3: 29–34, group 4: > 34), age, and RDW, which predicted the PCOS group by affecting the LTL level, was statistically significant (
p
< 0.001/PPV = 96.3%; NPV = 88.5%). Each unit reduction in telomere length increased women’s probability of PCOS by 0.4 times (
p
= 0.013; OR = 0.419, 95% CI: 0.211–0.835).
Conclusion
Although statistically insignificant, LTL increased after metformin use in PCOS patients, and the mean weight loss reduction was statistically significant. Telomere shortening increased the likelihood of PCOS 0.4 times.
The distribution of factor V Leiden G1691A, factor II G20210A, MTHFR C677T, and factor V H1299R polymorphisms known to predispose to thrombophilia in 215 cases and 40 controls admitted with ...indication of recurrent pregnancy loss (RPL) was investigated. Genotyping was performed by melting curve analysis using simultaneous PCR (RT-PCR). There was no difference between genotype and allele frequencies in the case and control groups in terms of the polymorphisms examined (p>0.05). In the genotype distribution of the Factor V gene G1691A polymorphism, 12.6% GA in the case group and 90.0% GG (wild) genotypes in the control group were found to be higher than the other genotypes. In the genotype distribution of the factor II gene G20210A polymorphism, the GG (wild) genotype was found to be higher in 94.5% and 97.5%, respectively, in the case group and control group than the other genotypes. In the genotype distribution of MTHFR gene C677T polymorphism, 43.7% CC (wild) in the case group and 40.0% CT genotype in the control group were found to be higher than the other genotypes. In the genotype distribution of the factor V gene A4070G polymorphism, 87.4% AA (wild) in the case group and 80% AA (wild) genotype in the control group were found to be higher than the other genotypes. However, the frequency of risk allele A for factor V Leiden G1691A (6.8% and 5%), the frequency of risk allele A for factor II gene G20210A (3% and 1.2%), MTHFR gene C677T were determined in the case and control groups. The frequency of the T allele (35.9% and 42.5%), which is the risk allele for A4070G, and the frequency of the G allele (6.5% and 16.6%), which is the risk allele for the factor V gene A4070G, were determined. When our study results were evaluated, no relationship was found between RPL and factor V Leiden G1691A, factor II G20210A, MTHFR C677T, and factor V A4070G polymorphisms.
Background: Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. In this study, we investigated the possible ...association of vitamin D levels and rs703842 in the CYP27B1 gene with MS. Methodology: We used blood samples of 99 patients (65 female, 35 male) with an magnetic resonance imaging (MRI)-confirmed definitive diagnosis of MS and 99 controls (70 female, 29 male) between the ages of 18-55 years. We measured their vitamin D levels, isolated their DNA, and scanned rs703842 polymorphism in the CYP27B1 gene. Results: Rs703842 polymorphism in the CYP27B1 gene in humans was found as three different genotypes: CC, CT, and TT. Among them, CC genotype was found higher in the patient group and CT genotype was found higher in the control group. The statistical analysis showed that the probability of a C allele having an association with MS to be 1.5189 times of the probability of T allele. Also, the vitamin D levels in the patient group were detected lower than the control group. Conclusion: Low levels of vitamin D and low expression of CYP27B1 were found to have an association with MS. JBCGenetics 2020; 3(1.000): 3-6
The aim of this study is to investigate the genetic influence of polymorphisms in fat mass and obesity associated (FTO) gene on a sample of obese subjects and controls. Obesity is an epidemic all ...over the world. Several polymorphisms in the first intron of FTO gene have been associated with common forms of human obesity. In this research rs1421085 and rs9939609 polymorphisms of FTO gene were genotyped in 190 obese patients with a BMI ≥30 kg/m²(Body Mass Index) and 97 healthy controls with a BMI of 18.5–24.9. Genotyping of SNPs was performed by real-time polymerase chain reaction. Body composition was established with bioelectric impedance analysis. Waist-to-hip ratio was determined for all participants. There were no significant differences (P > 0.05) between obese cases and controls in terms of genotype frequencies of rs1421085 and rs9939609 polymorphisms in our study. Also there were no significant correlations between genotypes and obesity related (anthropometric-body composition) parameters (P > 0.05).
The aim of this study was to investigate the association between the polymorphisms of the vitamin D receptor (VDR) and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan ...and VDR proteins are the main components of bone and cartilage. In our study, the polymorphisms of the VDR and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation. An association was found in the patients having VDR gene TT, Tt, FF, and Ff genotypes with the protrusion type of disc herniation, whereas the patients having tt and ff genotypes were associated with extrusion/sequestration types of the disease. Also, an association was observed between TT and FF genotypes of the VDR gene and mild forms of disc degeneration; and tt, ff, and Ff genotypes and severe forms of the disease. There was also an association between shorter, normal, and longer alleles of the aggrecan gene and a protrusion type of disc herniation. An association was found between short alleles and multilevel and severe disc degeneration, as well as normal and long alleles and mild disc degeneration. This study revealed that the polymorphisms of the VDR and aggrecan genes are associated with disc degeneration and herniation.
Age-related cataract is the most important visual impairment all over the world. Epigenetic modifications, especially overexpression of histone deacetylases, have become the focus of interest for ...cataract development in recent years. Sirtuin 1 (SIRT1), a class II histone deacetylase and a member of the sirtuin family, is one of the best-characterized histone deacetylases and has a pivotal role in age-related diseases. However, the association of SIRT1 with age-related cataracts has not yet been fully elucidated. Therefore, we aimed to determine the expression of SIRT1 in age-related cataract patients.
Expressions of SIRT1 were evaluated by quantitative polymerase chain reaction (qPCR) in patients and healthy controls. RNA samples were collected from the anterior capsule and peripheral blood samples of age-related cataract patients. Human lens epithelial cell line B3 and peripheral blood samples of healthy subjects were used as controls.
We determined that the expression of SIRT1 in blood and anterior capsule samples increased significantly compared to the control group (P < 0.05).
The expression level of SIRT1 plays a vital role in the development of age-related cataract and it can be used as a biomarker. Thus, SIRT1 inhibitors can be used in the treatment of age-related cataract disease.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Background
The human lens develops age-related cataracts (ARCs) because of the complicated effects of aging and stressful conditions. Under conditions involving oxidative stress, cells form stress ...granules (SGs).
TDRD7
has been identified as an RNA granule component and an important component of SGs.
TDRD7
plays a role in the post-transcriptional expression of genes, such as the crystallin gene
CRYBB3
. Therefore, the present study investigated
TDRD7
and
CRYBB3
mRNA expressions in relation to age-related cortico-nuclear cataracts.
Methods
Quantitative real-time PCR was used to determine the expression levels of
TDRD7
and
CRYBB3
in 52 patients with ARC and 52 healthy controls. Anterior lens capsules and peripheral blood samples from patients with ARC were included in the patient group, and peripheral blood samples from healthy subjects and human lens epithelial cells (HLE-B3) were included in the control group. Gene expression levels in the different age groups were compared. Correlation analysis was used to assess the gene expression levels and age.
Results
The expression of
TDRD7
and
CRYBB3
was significantly up-regulated (
P
< 0.0001) in anterior lens capsules compared to that in HLE-B3 cells. Similarly, the expression of
TDRD7
(
P
= 0.0004) and
CRYBB3
(
P
< 0.0001) was higher in the peripheral blood samples of patients with ARC than in those of healthy subjects. Significant upregulation (
P
< 0.05) was observed in the 71–81-year age group of patients. No correlation was found between gene expression levels and age.
Conclusion
Significantly higher expression levels of
TDRD7
and
CRYBB3
in patients with ARC than in controls suggest that
TDRD7
and
CRYBB3
are associated with the development of age-related cortico-nuclear cataracts and the aging process under chronic stress.
This study aimed to investigate the 677C > T and 1298A > C MTHFR gene polymorphisms and their metabolic effects on the levels of folate, vitamin B12 and homocysteine in the serum of Turkish spina ...bifida occulta (SBO) patients and healthy individuals in disease.
A case-control study was performed to detect 677C > T and 1298A > C MTHFR gene polymorphisms in 39 SBO patients and 34 healthy individuals. The folate, vitamin B12 and homocysteine concentrations in the serum of SBO and healthy individuals were evaluated and compared with MTHFR gene polymorphisms.
677 CC/CT/TT MTHFR genotype frequency differences between the SBO patients and controls were not significant (x(2)=3.325, P=0.068; x(2)=1.479, P=0.224; x(2)=0.275, P=0.600; respectively). 1298A > C MTHFR genotype frequency differences between the SBO patients and controls were significant (x(2)=8.477, P=0.004). The frequencies of the Aand C alleles of the 1298A > C polymorphism did not differ in a statistically significant manner between the groups (x(2)=0.576, P=0.448). The biochemical parameters were not significantly different between SBO patients and healthy individuals (P > 0.05).
The 677C > T and 1298A > C polymorphisms of the MTHFR gene cannot be regarded as major risk factors for SBO in the Turkish patients 677TT homozygosity may affect the metabolism of homocysteine.
Background and Design: Psoriasis is a multifactorial disease whose causal origin is unclear. Macrophage migration inhibitory factors (MIF) seem pivotal in inflammation and immune response in ...psoriasis pathogenesis. We aimed to investigate the serum MIF levels and MIF gene polymorphism (rs755622 and rs1007888) in patients with psoriasis. Materials and Methods: In this study, the association of serum MIF levels and MIF gene polymorphisms with psoriasis were investigated among 100 patients in Turkey. Genotyping was performed by real-time polymerase chain reaction. Serum MIF levels were evaluated by ELISA, and the results were presented in ng/mL. Results: The distribution of rs755622 genotype frequencies in the psoriasis group was: 75, 18, and 4 patients with CC, CG, and GG, respectively. The distribution of rs1007888 genotype frequencies in the psoriasis group was: 22, 48, and 26 patients with AA, AG, and GG, respectively. There was no statistically significant difference between the two groups. However, there was a statistically significant difference between the mean serum MIF levels of psoriasis patients (3.29 ng/mL) compared with the control group (1.08 ng/mL) (p<0.001). Conclusion: Significantly higher serum MIF levels were found in patients with psoriasis. However, there was no gene polymorphism association for genetic markers rs755622 or rs1007888 with psoriasis. Further studies in larger populations are warranted to elucidate the role of MIF and its clinical effects. Keywords: Cytokine, macrophage migration inhibitory factor, MIF MIF gene polymorphism, psoriasis Amac: Psoriazis etiyolojisi net olmayan multifaktoriyel bir hastaliktir. Psoriazisin patogenezindeki enflamasyon ve immun yanitta makrofaj migrasyon inhibitor faktor'un (MIF) yeri onemli gorulmektedir. Calismamizda, psoriazis hastalarinda serum MIF duzeyleri ve MIF gen polimorfizminin (rs755622 ve rs1007888) arasindaki iliskiyi arastirmayi amacladik. Gerec ve Yontem: 100 psoriazis hastasinda serum MIF duzeyleri ile MIF gen polimorfizmlerinin iliskisi, genotipleme gercek zamanli polimeraz zincir reaksiyonu ile arastirildi. Serum MIF seviyeleri bir ELISA kiti kullanilarak degerlendirildi ve sonuclar ng/mL olarak verildi. Bulgular: MIF geni rs755622 polimorfizmi acisindan kontrol gurubu ile karsilastirildiginda psoriazis hastalarinda CC genotipine sahip birey sayisi 75, CG genotipine sahip birey sayisi 18, GG genotipine sahip birey sayisi 4 olarak bulundu. Kontrol grubunda CC genotipine sahip birey sayisi 69, CG genotipine sahip birey sayisi 23, GG genotipine sahip birey sayisi 3 olarak bulundu. Iki grup arasinda istatistiksel olarak anlamli fark saptanmadi. Rs1007888 poliformizmi acisindan kontrol grubu ile karsilastirildiginda psoriazis hastalarinda AA genotipine sahip birey sayisi 22, AG genotipine sahip birey sayisi 48, GG genotipine sahip birey sayisi 26 olarak bulundu. Kontrol grubunda AA genotipine sahip birey sayisi 19, AG genotipine sahip birey sayisi 52, GG genotipine sahip birey sayisi 24 olarak bulundu. iki grup arasinda istatistiksel olarak anlamli fark saptanmadi (p=0,454). Ote yandan, psoriazis hastalarinda ortalama serum MIF duzeyleri 3,29 ng/mL ve kontrol grubunda ortalama serum MIF duzeyleri ise 1,08 ng/mL olarak olculdu. Iki grup arasinda istatistiksel olarak anlamli fark vardi (p<0,001). Sonuc: Psoriazis hastalarinda serum MIF duzeyleri anlamli olarak yuksek bulundu. Bununla birlikte, psoriazis hastaligi ile rs755622 ve rs1007888 genlerinde herhangi bir gen polimorfizm iliskisi yoktu. MIF'nin psoriazisteki rolunu ve klinik etkilerini aciklayabilmek icin daha buyuk populasyonlarda calismalar yapilmasi gerekmektedir. Anahtar Kelimeler: Sitokin, makrofaj migrasyon inhibitor faktor, MIF MIF gen polimorfizmi, psoriazis
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