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.
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.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Obesity is a complex disorder with nearly epidemic proportions in many parts of the world. Genome-wide association studies have demonstrated high heritability for obesity and body mass, with ...associations of certain candidate genes and their variations with respect to race, geographical location/country of origin. However, the functional mechanisms and different ethnic data of these loci are still poorly understood. In this case-control study, we investigated two single nucleotide polymorphisms, rs2815752 in the neuronal growth regulator 1 (NEGR1) gene and rs6548238 in the transmembrane protein 18 (TMEM18) gene, for association in a group of obese residents of Afyonkarahisar province (Turkey). Polymorphisms were genotyped in 172 obese subjects and 77 healthy controls. The results showed no significant differences between the obese subjects and the controls in terms of the allele and genotype frequencies of the NEGR1 gene rs2815752 and the TMEM18 gene rs6548238 polymorphisms. There were no significant associations of the rs2815752 polymorphism in obese subjects and controls with regard to anthropometric measurements and body composition parameters. However, several significant associations were found for the rs6548238 polymorphism with regard to anthropometric measurements and body composition. Consequently, there were no significant differences between the genotype and allele frequencies of NEGR1 gene rs2815752 and TMEM18 gene rs6548238 polymorphisms in the obese group and the controls. There were significant associations for the rs6548238 polymorphism, but not the rs2815752 polymorphism, with the anthropometric measurements and body composition parameters in the group of obese subjects.
Objective: With an increasing incidence and prevalence, Chronic Kidney
Disease (CKD), is a bad prognosed and high cost common public health
problem. KLOTHO gene which is defined as aging suppressor ...gene is highly
expressed in kidneys. Decreased Vitamin D receptor (VDR) activation plays a
role in CKD morbidity and mortality. The aim of this study is to examine
the association between CKD and polymorphisms of KLOTHO (G395A and
C1818T) and VDR (ApaI and TaqI) genes as well as investigating the effects of
these polymorphisms on different clinical phenotype of the disease.
Methods: In 104 cases diagnosed to have CKD and 104 healthy controls,
KLOTHO gene G395A, C1818T polymorphisms were studied by DNA sequence
analysis and VDR gene ApaI and TaqI polymorphisms were studied by
polymerase chain reaction–restriction fragment length polymorphism (PCR–
RFLP) method.
Results: No statistical difference was found in genotype and allele frequencies
for KLOTHO gene G395A, C1818T and VDR gene TaqI polymorphisms between
the groups. VDR gene ApaI polymorphism was found to be significantly higher
in the patient group than in the control group (p=0.018).
Conclusion: Our results demonstrated that VDR gene ApaI polymorphism may
be related to CKD and may be a risk factor for the development of the disease.
Purpose
Age-related cataract (ARC) is the most common cause of visual impairment and blindness in older adults. However, the role of
CUL4B
in the ARC remains unclear. Therefore, we investigated
CUL4B
...expression and its effects on apoptosis.
Materials and methods
CUL4B
expression levels were detected by a quantitative real-time polymerase chain reaction from the anterior lens capsules of patients with ARC and HLE-B3 cells treated with different concentrations of H
2
O
2
.
CUL4B
expression was silenced by siRNA transfection to evaluate apoptosis. CUL4B and apoptotic proteins B cell lymphoma 2 (Bcl-2), myeloid cell leukemia 1 (Mcl-1), caspase-3, cleaved caspase-3, Bax, Bak, and Bid were assessed using western blot analysis. Apoptosis was monitored using the TUNEL assay.
Results
CUL4B
expression was downregulated in the anterior lens capsules (
P
< 0.0001) and H
2
O
2
-treated HLE-B3 cells (
P
= 0.0405). CUL4B protein levels were significantly lower in 100 µmol/L (
P
= 0.0012) and 200 µmol/L (
P
= 0.0041) H
2
O
2
-treated HLE-B3 cells than in the untreated cells.
CUL4B
expression was significantly knocked down at the mRNA (
P
= 0.0043) and protein levels (
P
= 0.0002) in HLE-B3 cells. Bcl-2 (
P
= 0.0199), Mcl-1 (
P
= 0.0042), and caspase-3 (
P
= 0.0142) were significantly downregulated, whereas cleaved caspase-3 (
P
= 0.0089) and Bak (
P
= 0.009) were significantly upregulated in the knockdown group. The TUNEL assay showed a greater induction of apoptosis.
Conclusions
CUL4B
downregulation promotes the apoptosis of lens epithelial cells. Our study may help in understanding the role of
CUL4B
in ARC pathogenesis.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Objective: Chronic myeloid leukemia (CML) is one of the most common hematological malignancies derived from the BCR/ABL1 fusion gene. Patients with CML generally manifest leukocytosis with basophilia ...and neutrophilia. The verification of CML is often based on the detection of BCR/ABL1 fusion. We aimed to investigate the impact of peripheral blood (PB) differential and complete blood count (CBC) on BCR/ABL1 p210 test ordering in patients with suspected CML.
Methods: We performed a retrospective assessment of patients tested for the first time for BCR/ABL1 p210 fusion. We obtained clinical and laboratory findings of 235 patients from the database of our clinic. BCR/ABL1 p210 fusion was detected by quantitative real-time polymerase chain reaction (RT-qPCR). We implemented t-tests or Mann–Whitney U tests for the comparison of continuous data. We plotted the receiver operating characteristic (ROC curves) and calculated the area under the ROC curve (AUC) for each parameter.
Results: Among 235 patients, 25 (%10.6) received a new diagnosis of CML. CML patients had significantly increased white blood cell count (WBC) with differential. Absolute basophil count showed the highest area under the ROC curve (AUC) value of 0.829, which had a cut-off value of 0.3 × 103/ µL. 76.00% of CML cases had an absolute basophil count of ≥0.3 × 103/µL, while 95.24% of the non-CML cases had an absolute basophil count of
Amaç: Kronik miyeloid lösemi (KML), BCR/ABL1 füzyon geninden kaynaklanan en yaygın hematolojik malignitelerden biridir. KML'li hastalar genellikle bazofili ve nötrofili içeren lökositoz gösterirler. KML'nin doğrulanması genellikle BCR/ABL1 füzyonunun saptanmasına dayanır. KML şüphesi olan hastalarda BCR/ABL1 p210 testi için periferik kan (PK) diferansiyeli ve tam kan sayımının (TKS) etkisini araştırmayı amaçlıyoruz.
Metot: BCR/ABL1 p210 füzyonu için ilk kez test edilen hastaların retrospektif bir değerlendirmesini yaptık. Kliniğimiz veri tabanından 235 hastanın klinik ve laboratuvar bulgularını elde ettik. BCR/ABL1 p210 füzyonu, kantitatif Gerçek Zamanlı Polimeraz Zincir Reaksiyonu (RT-qPCR) ile tespit edilmiştir. Sürekli verilerin karşılaştırılması için t-testi veya Mann-Whitney U testleri uyguladık. Her parametre için alıcı çalışma karakteristiğini (ROC eğrileri) çizdik ve ROC eğrisi altındaki alanı (AUC) hesapladık.
Bulgular: 235 hastanın 25'ine (%10.6) yeni KML tanısı kondu. KML hastalarında, diferansiyel ile önemli ölçüde artmış beyaz kan hücresi sayısı (WBC) vardı. Mutlak bazofil sayısı, 0,3 × 103/uL'lik bir kesme değerine sahip olan 0,829'luk ROC eğrisi (AUC) değerinin altındaki en yüksek alanı gösterdi. KML vakalarının %76,00'ında mutlak bazofil sayısı ≥0,3 × 103/uL iken, KML olmayan vakaların %95,24'ünde mutlak bazofil sayısı
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.
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Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
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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