Frequency Of CC Genotype Research Articles

Potential Impact of TP53 Gene Polymorphism rs1042522 G>C in Leukemia Patients of Saudi Arabia

Background: The TP53 protein functions by regulating cell cycle arrest, DNA repair, apoptosis, and gene transcription to mediate cellular responses to DNA damage. Many studies have reported that the p53 codon 72 polymorphism is associated with Leukemia susceptibility; however, the conclusions are inconsistent. Therefore this study was aimed to investigate the association of TP53 Arg72Pro gene variations with leukemia susceptibility in Saudi Arabia Methodology: This population-based case–control study was done on 68 clinically confirmed Leukemia patients and 102 matched healthy controls with no history of any type of cancer. The TP53 (rs1042522 G/C) genotyping was detected by using Allele specific PCR. Results: We observed a statistically significant difference in the frequencies of TP53 GG, GC and CC genotypes among patients and healthy controls (p=0.004) .The higher frequencies of GG (26, 50%), CC (13.20%) genotypes were reported in leukemia patients than the health controls GG (22.54%) and CC (01%) whereas the higher frequencies of GC genotypes (76.47%) was reported in healthy controls compared to cases GC genotypes (60.30%) .Our findings showed that the TP53 (rs1042522 G/C) variant was associated with an increased risk of leukemia in codominant inheritance model (OR=11.50, 95%CI= (1.33-99.3); RR=5.60 (0.85-36.7), P=0.020 GG vs CC and in recessive inheritance model (OR=15.5, 95%CI= (1.92125.8), RR (6.33(0.98-40.8) P=0.010 (GC+ CC) vs CC .There was no significant difference in dominant inheritance model (OR=0.80, 95% CI= (0.39-1.64): RR=0.91(0.67-1.24),P=0.55 (GC+ CC) VS GG .This study indicates that TP53 CC the GG+GC combination may be risk factors for Leukemia patients in our Saudi population. Conclusion: Our findings indicated that TP53 CC and (GC+CC) genotype are associated with an increased susceptibility to leukemia in Saudi Arabian population. It can be used as a predisposing genetic marker for Leukemia .Furthers studies with larger sample sizes are necessary to confirm our findings.

Genetic variations associated with premorbid personality in patients with schizophrenia

To search for genetic variants associated with premorbid personality in patients with schizophrenia. The sample included 272 men diagnosed with schizophrenia or schizoaffective disorder. Patients were divided into 3 groups based on premorbid personality difficulties: mild (group 1, n=110), moderate (group 2, n=113), marked (group 3, n=49). The following polymorphisms were genotyped: 5-HTR2A (T102C), 5-HTTLPR, BDNF (Val66Met), CRP (-717A>G). A significant increase in the frequency of the CC (5-HTR2A T102C), LL (5-HTTLPR) and Met/Met (BDNF Val66Met) genotypes was identified in group 3 compared to group 1. Frequencies of CC and LL genotypes were significantly higher in group 2 compared to group 1 as well. The differences between group 2 and group 3 were found only for the Met/Met genotype. There were no between-group differences in the frequencies of CRP (-717A>G) genotypes. 5-HTR2A (T102C), 5-HTTLPR, BDNF (Val66Met) polymorphisms previously reported to modify schizophrenia course are also associated with premorbid personality in schizophrenic patients.

Peroxisome Proliferator Activated Receptor (PPAR) Delta Genetic Polymorphism in Saudi Normal Population

Background: Peroxisome proliferator-activated receptors (PPARs) are transcription factors that belong to the superfamily of nuclear hormone receptors. Three PPARs members, PPAR-alpha, PPAR- delta and PPAR gamma, have been characterized. PPAR-delta in humans is encoded by the PPARD gene and has been shown to possess a role in regulating fatty acid catabolism and energy homeostasis. Several polymorphisms have been identified in PPARD as potential functional variants. PPARD +294T > C polymorphism was shown to modify serum lipid concentrations in some ethnic groups. Aim: The current study aimed to screen the presence of the PPARD polymorphism in the Saudi population. Method: Blood samples were collected from normal individuals. Genomic DNA was extracted from peripheral blood monnuclear cells and the partial gene of the PPARD was amplified by polymerase chain reaction and subjected to gel electrophoresis. PPARD rs2016520 polymorphism was analyzed by polymerase chain reaction–restriction fragment length polymorphism. Results: The frequencies of CC, CT, and TT genotypes in normal Saudi population were 9.09%, 14.2% and 76.6%, respectively. Conclusion: The Saudi nationals seems to have low frequency of the PPARD +294T > C polymorphisms. Limitations: Relatively small sample size, serum lipid levels were not determined.

Effect of a Single Nucleotide Polymorphism in the Cholecystokinin Type A Receptor Gene on Growth Traits of the Miyazaki Jitokko Chicken.

The Miyazaki Jitokko chicken, native to the Miyazaki Prefecture in southern Kyushu Island, Japan, is the product of a three-way cross involving the Jitokko, White Plymouth Rock, and Kyushu Rhode breeds. In the present study, associations between a single nucleotide polymorphism (SNP; AB604331, g.420 C>A) of the chicken cholecystokinin type A receptor gene and growth traits in Miyazaki Jitokko chickens were investigated. Unrelated male birds (n=120) that had hatched on the same day were raised in the same chicken house and fed the same diet ad libitum from day 0 to 17 weeks of age. Body weight was recorded at 0, 1, 2, 3, 4, 5, 7, 9, 11, 13, 15, and 17 weeks and the average daily gain of each interval was calculated from the body weight data. SNP genotyping of each bird was performed using the mismatch amplification mutation assay. The associations between the SNP and growth traits were examined using the Thesias program. The genotype frequencies of AA, AC, and CC were 0.525, 0.383, and 0.092, respectively. AA birds were significantly heavier than CC birds from 4 to 17 weeks of age. In the estimated effect of alleles, body weight from 1 to 17 weeks of age in birds with the A allele was greater than that in birds with the C allele. During the rearing period, the effect of the A allele on average daily gain in the first half was greater than that in the second half. We conclude that the g.420 C>A SNP can be used as a selection marker for the parent stock lines of the Miyazaki Jitokko chickens to increase their growth performance.

Genetics of Obstructive Sleep Apnea: Vitamin D Receptor Gene Variation Affects Both Vitamin D Serum Concentration and Disease Susceptibility.

Obstructive sleep apnea syndrome (OSAS) is a multifactorial and common disorder affecting 10-17% of men and 3-9% of women. A low vitamin D serum concentration has been reportedly linked to OSAS susceptibility, but the underlying molecular genetic mechanisms are poorly understood thus far. We report here original findings on the ways in which vitamin D receptor (VDR) gene polymorphic variation (FokI, BsmI, ApaI, and TaqI polymorphisms) impacts serum vitamin D concentration and, additionally, susceptibility to OSAS. In a sample of 176 consecutive subjects (144 patients with OSAS and 32 healthy controls) phenotyped by full polysomnography (PSG), we characterized human genetic variation in VDR using the Sequenom MassARRAY iPLEX platform. A logistic regression analysis was employed to account and correct for covariates such as sex, age, body mass index, and comorbidities. Importantly, we observed that the FokI CC genotype frequency was markedly higher in patients with OSAS compared with controls (50.7% vs. 28.1%; p = 0.027). VDR FokI polymorphism explained 14.5% of vitamin D serum concentration variability. Moreover, the VDR FokI polymorphism was also associated with excessive daytime sleepiness (p = 0.016). To the best of our knowledge, this is the first clinical genetics study examining the role of VDR polymorphic variation on OSAS as phenotyped using full PSG. We call for further studies of vitamin D-related mechanisms that might contribute to OSAS risk in independent populations.

Interleukin 12B mRNA level and rs3212227 genotyping in peripheral blood mononuclear cells of inflammatory bowel disease patients

Inflammatory bowel disease (IBD) is a multifactorial disorder. Single nucleotide polymorphisms (SNPs) in the IL-12 gene, which are the main factors to regulate the immune reaction, play an important role in the production of IL-12 molecules. The aim of this study was to evaluate the correlation between the SNP on position +1188 of the 3 ′ UTR region of the IL-12 p40 subunit gene and expression of the IL-12 p40 gene. This case-control study was performed with 102 patients with IBD and 107 healthy people. PCR-RFLP and comparative real-time PCR were performed to assess the association between genotype and IL-12 gene expression. The frequency of AA, CA, and CC genotypes of this gene at position +1188 was calculated to be 58.8%, 32.4%, and 8.8% in patients and 61.7%, 26.2%, and 12.1% in the control group, respectively, with no significant difference between the two groups (IL- 12B rs3212227: AA (Reference 1), CA (P = 0.407); OR (95% CI) 0.771 (0.418–1.424), CC (P = 0.561); OR (95% CI) 1.313 (0.524–3.292)). Also, the IL-12B mRNA expression level was compared between IBD patients and healthy controls and demonstrated a significant association (R 2 0.136, 95% CI 1.892–3.872, P < 0.0001). Our results show that IL-12B expression in IBD may be associated with altered immune and inflammatory responses.

Association of IL-10, IL-18, and IL-33 genetic polymorphisms with recurrent pregnancy loss risk in Iranian women

Recurrent pregnancy loss (RPL) is a heterogeneous disease with three or more consecutive abortions before 20 weeks of pregnancy. Recently, inflammatory factors such as interleukins (IL) have been found to be a significant factor in the RPL. The objective of this study was to investigate the association between RPL and IL-10 (rs1800896), IL-18 (rs1946518) and IL-33 (rs1929992) genes polymorphisms in Iranian women. The study participants consisted of 300 women with RPL and the control group comprised of 300 healthy women with successful delivery. Genomic DNA was extracted from peripheral blood, and genotyping was performed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). There were no significant differences in the frequencies of genotype and allele in IL-10 gene polymorphism (rs1800896) between patients and control group (p > .005). In contrast, there were significant differences in the frequencies of CC genotype in IL‐18 gene polymorphism (rs1946518) between patients and the control groups (p = .004; OR =0.990; 95% CI: 0.320–8.855). Also, there were significant differences in the frequencies of GA genotype in IL‐33 gene polymorphism (rs1929992) between patients and the control groups (p = .001; OR =0.955; 95% CI: 0.239–9.807). Present study showed that the rs1800896 polymorphism (IL-10) might not play role in RPL in the Iranian population; whereas rs1946518 (IL-18) and rs1929992 (IL-33) polymorphisms may be associated with the risk of RPL in the Iranian women.

Initial determination of the association between SNP rs3937033 on the D-LOOP mtDNA and breast cancer in Vietnam

Breast cancer (BC) is the most common cancer among women and accounts for the highest mortality rates in the developing countries, including Vietnam. D-loop, is a non-coding region in mitochondrialcircular DNA molecules, related to control the replication and transcription of mitochondrial genes. D-loop mutations cause the dysfunction of the respiratory chain, which contributes to the process of BC. SNP rs3937033 (T/C) on D-loop was reported to have the association with BC in Europe America population (OR [95%CI]= 1.98 [1.25–3.12], P=0.036), and Caucasian (OR[95%CI]= 21 [2.15–204.6], P=0.003). In this study, the High Resolution Melting (HRM) method is optimized for genotyping 100/100 cases/controls samples, then to determine the association between the disease and this SNP. TT, TC and CC genotype frequencies in patient group (36 %, 3 % and 61 %) and control group (23 %, 1 % and 76 %) were calculated based on the results of genotyping by optimal HRM method with the annealing temperature is 66 0C. Association analysis result showed that T allele increases the risk of breast cancer patients up to 1.41 times (OR [95% CI] = 1.41 [1.3-1.92], Pallele = 0.03). Therefore, SNP rs3937033 could be a potential biomarker for early BC diagnosis in Vietnamese. However, this research needs to be conducted with a larger sample size to reach the greater confidence.

Genetic polymorphisms of methylenetetrahydrofolate reductase C677T and risk of ischemic stroke in a southern Chinese Hakka population.

Previous studies have shown that methylenetetrahydrofolate reductase (MTHFR) gene to be a genetic risk factor for the susceptibility to ischemic stroke. The aim of this case-control study was to investigate whether the polymorphisms of MTHFR C677T were associated with the susceptibility to ischemic stroke in a southern Chinese Hakka population. In this study, a total of 1967 ischemic stroke patients and 2565 controls of Chinese Hakka ethnicity were recruited. The MTHFR C677T polymorphisms were genotyped by polymerase chain reaction (PCR) amplification and microarray method. The risk of ischemic stroke was estimated by logistic regression analysis. The frequencies of CC, CT, and TT genotypes were 52.67% versus 55.63%, 40.31% versus 38.52%, and 7.02% versus 5.85% in patients with ischemic stroke versus controls, respectively. The frequency of T allele was significantly higher in ischemic stroke patients (27.17%) than in controls (25.11%) (P = .026, odds ratio [OR] 1.113, 95% confidence interval [CI] 1.013–1.223). The homozygous TT genotype in the ischemic stroke patients was associated with increased risk (P = .049, OR 1.132, 95% CI 1.001–1.281) when compared with the controls after adjustment for age and sex. The positive association was only found in dominant model without adjustment for age and sex (P = .047, OR 1.127, 95% CI 1.002–1.268). Also, the carrier status of the MTHFR T allele was identified as an independent risk factor for the development ischemic stroke even after the adjustment for conventional risk factors (P = 0.047, OR 1.109, 95% CI 0.964–1.225). Our results provide evidence that variants of MTHFR C677T gene may influence the risk of developing ischemic stroke in a southern Chinese Hakka population. Further studies are needed to confirm this association, which will promote the development of strategies for prevention and treatment of ischemic stroke in our study population.

Interleukin-4 (IL4) -590C/T (rs2243250) gene polymorphism is not associated with diabetic nephropathy (DN) in Caucasians with type 2 diabetes mellitus (T2DM).

Diabetic nephropathy (DN) is a microvascular complication that affects up to 40% of diabetic patients and can lead to end-stage kidney disease. Inflammatory cytokines such as interleukin 1 (IL-1), IL-6, IL-18 and tumor necrosis factor-α (TNFα) have been linked to the development and progression of DN. The aim of our study was to examine the relationship between interleukin-4 (IL4) -590C/T (rs2243250) gene polymorphism and DN in patients with type 2 diabetes mellitus (T2DM). This study is a continuation of our previous research on the association between angiotensinogen (AGT) gene polymorphisms and DN in patients with T2DM. We included 651 unrelated Slovenian (Caucasian) patients who had had T2DM for at least 10 years. The participants were classified into a group of T2DM patients with DN (276 cases) and a group without DN (375 controls). IL4 rs2243250 polymorphism was analyzed using a TaqMan SNP genotyping assay and StepOne Real-Time PCR System. The frequencies of rs2243250 TT, CT and CC (wild type) genotypes were 3.2%, 29.4% and 67.4%, respectively in patients with DN, and 2.7%, 34.4% and 62.9%, respectively in controls. Our logistic regression analysis adjusted for gender, age, diabetes duration, and glycated hemoglobin showed no association between rs2243250 and the risk for DN (OR 1.06; CI 0.37-3.05; p = 0.9). IL4 rs2243250 is not associated with DN in our subset of Slovenian patients with T2DM.

Genetic Variation in Intergenic and Exonic miRNA Sequence and Risk of Multiple Sclerosis in the Isfahan Patients

MicroRNAs (miRNAs), have been documented to perform a key role in the pathogenesis of multiple sclerosis (MS), a chronic inflammatory and autoimmune disease. Recent studies have shown that single nucleotide polymorphism in the sequence of the miRNA may change their production and expression which can lead to miRNA dysfunction and pathogenicity. Some studies have reported the relationship between miRNA polymorphism and the increased risk of autoimmune disease. This study was conducted to investigate the association between mir155 rs767649, mir196a2 rs11614913 and mir23a rs3745453 polymorphism and the risk of multiple sclerosis in the Iranian MS patients in Isfahan. A population of 80 patients and the same number control were selected. After DNA extraction, genotyping was performed through tetra amplification refractory mutation system-PCR method (T ARMS PCR). The frequencies of TT, TC and CC genotypes of mir23a were 46, 35 and 20% in MS patients and 42, 14 and 24 in healthy subjects respectively. These results showed that individuals carrying the genotypes of rs3745453 TC had a 2.3-fold increased risk of MS (OR=2.3, p=0.048). There was no significant difference between genotypes and allele frequency of mir155 and mir196a2 in patients and healthy controls (p>0.05). Our findings specified that CT heterozygosity in mir23a gene significantly related with risk of MS. Unlike mir155 and mir196a2, mir23a rs3745453 may have contributed to the etiology of MS in Isfahan patients. However, extensive studies are required to gain more reliable and authentic results.

XRCC1 rs1799782 (C194T) polymorphism correlated with tumor metastasis and molecular subtypes in breast cancer.

BackgroundBreast cancer, a malignant tumor with its highest incidence in women, affects physical and mental health, and can even be life-threatening. In recent years, its incidence has continued to grow, accompanied by a trend of younger onset. XRCC1 is well known as a DNA-repair gene, and its abnormal expression is related to the occurrence of various malignant tumors.MethodsIn this study, we detected XRCC1 expression and investigated its association with the XRCC1 rs1799782 polymorphism. XRCC1 was overexpressed to investigate its effect on in breast cancer cells. CCK8 and clone formation efficiency assay were used to detect cell proliferation. Transwell assay was performed to confirm cell migration and invasion. Flow cytometry was used to detect cell apoptosis.ResultsIn 118 breast cancer samples, CC genotype frequency was 49.15% (58 of 118), CT genotype frequency was 42.37% (50 of 118), and TT genotype frequency was 8.48% (ten of 118). Lymphatic metastasis was associated with a higher frequency of XRCC1 rs1799782 polymorphism (P<0.05), and breast cancer patients with positive PR, HER2, and negative ER had high XRCC1 rs1799782 frequency (P<0.05). Meanwhile, XRCC1 had low expression in breast cancer (74.6%, 88 of 118) and high expression in ER-negative, PR-negative, HER2-positive and Ki67-low-expression patients. XRCC1 rs1799782 may play an important role in the development and metastasis of breast cancer. These results differ from previous studies that did not suggest that rs1799782 is effective in breast cancer. We also investigated the role of XRCC1 in breast cancer progression.ConclusionWe have proved that XRCC1 can inhibit proliferation and invasion and promote apoptosis of breast cancer cells. XRCC1 expression was regulated by the JNK pathway. We found that the JNK inhibitor SP600125 significantly inhibited the growth of breast cancer cells, and consider it a potential drug for breast cancer.

Influence of -174G/C IL-6 gene polymorphism on the susceptibility to rheumatoid arthritis in children and adults in the Republic Of Belarus

The usage of clinical and instrumental methods only may be not sufficient for early diagnosis of autoimmune rheumatic diseases, as well as for their course prediction. The progress of modern rheumatology is largely conditioned by the investigation of molecular-genetic nature of diseases and the identification of biomarkers that can significantly improve diagnostics and therapeutic approach. The present study aimed to evaluate the effect of -174G/C IL-6 gene polymorphism on the risk of developing rheumatoid arthritis (RA) in children and adults in Republic of Belarus. It was established that the CC genotype frequency (p = 0.01, OR = 2.19; 95 % CI [1.31-3.67]) as well as the С allele frequency (p = 0.03; OR = 1.44; 95 % CI [1.04-2.00]) was significantly higher among patients with juvenile idiopathic arthritis (JIA) in the entire group and especially in girls (p = 0.04, OR = 2.55; 95 % CI [1.22-5.36]) in comparison with the controls. In addition, there is a tendency to higher frequency of the С allele in adult patients with RA (p = 0.07), reaching statistical significance in the case of RF-negative arthritis (p = 0.03, OR = 3.04; 95 % CI [1.15-8.06]). The minor С allele (p = 0.03, OR = 2.04; 95 % CI [1.09-3.82]) and homozygous CC genotype (p = 0.02, OR = 3.34; 95 % CI [1.38-8.07]) are also associated with seronegative polyarthritis in children. Thus, the presence of this allele in the tested locus increases the likelihood of developing certain rheumatoid arthritis subtypes in adults and children and can be used to reveal individuals with genetic predisposition.

Relationship between genetic polymorphism of MTHFR C677T and lower extremities deep venous thrombosis

ABSTRACTObjective: To investigate the association between the polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene and the formation of lower extremities deep venous thrombosis, and to evaluate the etiology of deep venous thrombosis.Methods: Polymorphisms of the 677th site C/T in MTHFR gene for 101 patients with lower extremities deep venous thrombosis (DVT group) and 120 healthy subjects (control group) were detected by polymerase chain reaction with sequence-specific primers. Genotype and allelic frequencies were compared between the two groups.Results: Genotype frequencies of CC, CT and TT in MTHFR C677 T were 41.58, 25.74 and 32.67% in DVT group, and 58.33, 23.33 and 18.33% in control group, respectively. There was a significant difference in TT genotype frequency between the two groups (P <0.05).Conclusion: The frequency of MTHFR 677TT genotype may be correlated with the morbility of DVT.

Polymorphisms in vitamin D receptor gene, but not vitamin D levels, are associated with polycystic ovary syndrome in Brazilian women

This study aimed to investigate the association between vitamin D (VitD) levels, polymorphisms in VDR gene (ApaI, BsmI, FokI, and TaqI) and the polycystic ovary syndrome (PCOS) in a group of Brazilian women. A total of 100 patients with PCOS and 100 control women were included. The quantification of 25-hydroxyvitamin D (25(OH)D) was performed in high-performance liquid chromatography (HPLC). Polymorphisms on VDR gene were performed by PCR-RFLP. The BsmI AG genotype was more frequent in PCOS group, while the GG genotype was more frequent in the control group (p = .007). The frequency of the Taql CC genotype was higher in PCOS group, while the CT genotype was the most frequent in the control group (p = .021). Mean serum VitD levels were similar between the groups. However, there was a negative correlation between VitD levels and Ferriman-Gallwey score (p = .031, r = −.260) in the PCOS group. The TaqI and BsmI polymorphisms were associated with PCOS. Moreover, VitD levels are associated with the clinical hyperandrogenism. The data suggest the role of VitD in PCOS development and its complications.

Polymorphism rs3819102 in thymidylate synthase and environmental factors: effects on lung cancer in Chinese population

PurposeLung cancer is the leading cause of cancer death worldwide, and the predominant risk factor for its development is smoking. Thymidylate synthase (TYMS) is a key enzyme in DNA synthesis that catalyzes the conversion of deoxyuridine monophosphate to dTMP. Rs931794, a single nucleotide polymorphism located in the TYMS gene, was suggested to be associated with cancer risk. MethodsTo analyze the interaction between rs3819102 and environmental factors on the risk of lung cancer in a Chinese population, single nucleotide polymorphismscan was used to genotype this polymorphism in 974 lung cancer cases and 1005 control subjects. ResultsThe frequencies of TT, CT, and CC genotypes of TYMS rs3819102 were 61.8%, 32.9%, and 5.3% in controls, and 53.8%, 38.4%, and 7.8% in cases, respectively. Compared with the TT genotype, the CT (odds ratio [OR], 1.380; 95% confidence interval [CI], 1.131-1.683), and CC (OR, 1.786; 95% CI, 1.213-2.644) genotypes were associated with an increased risk of lung cancer after adjustment for age, gender, smoking status, and family history. The C allele of rs3819102 is the risk allele for lung carcinogenesis in a dominant model (OR, 1.435; 95% CI, 1.188-1.735). In a stratified analysis, the risk effects of both the CT and CC genotypes of rs3819102 were more evident in subgroups of smokers and people without a family history of cancer. ConclusionThe rs3819102 polymorphism in TYMS might increase susceptibility to environmental factors and contribute to the risk of lung cancer. The C allele is a risk allele in lung carcinogenesis.

Influence of uridine diphosphate-glucuronosyltransferases (1A9) polymorphisms on mycophenolic acid pharmacokinetics in patients with renal transplant

Background: There are differences in pharmacokinetic of mycophenolic acid among individuals. The UGT1A9 enzyme is of special interest since it is the main enzyme involved in the glucuronidation of MPA. Single nucleotide polymorphisms in the UGT1A9 gene may be responsible for individual differences in the pharmacokinetics of MPA. The aim of this study was to explain MPA pharmacokinetics in UGT1A9 1399 C > T polymorphisms in Turkish renal transplant patients. Patients and methods: One hundred and twenty-five living-donor transplant recipients and 100 healthy control subjects underwent UGT1A9 1399 C > T genotyping using polymerase chain reaction–restriction fragment length polymorphism. Concentrations of MPA were determined with Cloned Enzyme Donor Immunoassay (CEDIA). Besides that, all the patients were monitored for acute rejection and graft function during the study period. Results: The UGT1A9 1399 C > T CC, CT, and TT genotype frequencies among patients were, respectively, 68.0%, 23.2%, and 8.8%. The CC, CT, and TT genotype frequencies among controls were, respectively, 63.0%, 23.0%, and 14.0%. There was no significant difference between patients and controls (p = .480, p = .999, p = .286, respectively). At first month, respectively, through blood concentrations of MPA were significantly higher in UGT1A9 1399 C > T TT carriers than in CT and CC carriers (p = .046). The doses for these patients were lower at first month (p = .021). Acute rejection episodes were not associated with the CC vs CT or TT genotypes (p = .064). Conclusions: Our results demonstrated a correlation between the UGT1A9 1399 C > T polymorphism and MPA pharmacokinetics among renal transplant patients. Determination of UGT1A9 polymorphism may help to achieve target of MPA blood concentrations.

MicroRNA-146a expression and microRNA-146a rs2910164 polymorphism in Behcet's disease patients.

Behcet's disease is a chronic, multisystem, inflammatory disease of unknown etiology. Oral ulcers, genital ulcers, cutaneous lesions, and ocular and articular involvement are the prominent features of the disease. The aim of the study was to assess expression of microRNA-146a and its gene polymorphism in Egyptian Behcet's disease (BD) patients and to evaluate their possible relation with clinical manifestations and activity. This is a case-control study, included 47 BD Egyptian patients, recruited from the Rheumatology outpatient clinic, Kasr Alainy Hospital, Cairo University Hospitals, and 50 healthy controls. BD activity was assessed using the BD Current Activity Score. Quantitative expressions of serum microRNA-146a and microRNA-146a rs2910164 SNP genotyping were performed by real-time polymerase chain reaction (RT-PCR). P values < 0.05 were considered statistically significant. Serum microRNA-146a expression was significantly higher in BD patients than in controls (7. 27 ± 4.11, 1.13 ± .37) (P < 0.001). There was a significant association between microRNA-146a expression and eye activity (P = 0.033) and vascular activity (P = 0.041). miRNA-146a rs2910164 genotyping revealed that the frequency of CC genotype was higher in controls (12 vs 8.5%) and the frequency of GG genotype of rs2910164 was higher in the BD patients (59.6 vs 24%) (P = 0.138). MicroRNA-146a expression in Egyptian BD patients is significantly higher than that in controls; there is significant association between microRNA-146a expression and eye and vascular activity of BD. The frequency of CC genotype of rs2910164 was decreased; frequency of GG genotype of rs2910164 was increased in BD patients as compared to controls, suggesting that GG genotype of rs2910164 confers susceptibility to BD while CC genotype has a protective role against BD development.

Association betweenGREM2 gene polymorphism with osteoporosis and osteopenia in postmenopausal women

ObjectiveOsteoporosis 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 DesignThe 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. ResultsStatistical 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. ConclusionOur 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.

Periostin (rs3829365) Gene Polymorphism and Cardiac Function in Psoriasis

Psoriasis considered a chronic inflammatory skin disease characterized by spontaneous remissions and exacerbations. The lesions are characterized by circumscribed, dry, erythematous plaques of various sizes covered by silvery white scales. Periostin gene (POSTN) in human is located in the long arm of chromosome 13 (13q13.3) and spans approximately 36 kb, It has 23 exons and encodes for a protein of 836 amino acids with a molecular weight of 93 kD, it was renamed periostin due to itˈs localized expression in the periosteum and the periodontal ligament.The aim of this study was to reveal the association between periostin (rs3829365) gene polymorphism and psoriasis susceptibility. Blood samples were taken from psoriasis patients and control group for genotyping of Periostin gene using PCR. Regarding periostin gene polymorphism, CG and GG genotypes showed higher distributions among psoriasis patients than control and total polymorphism showed higher distributions when compared to CC genotype frequency and G allele carry a risk factor for psoriasis susceptibility.Periostin genpolymorphism(rs3829365) genotypes frequencies CG,GG and(CG+GG) and G allele might play a role in psoriasis pathogenesis.