Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients

2021 ◽  
Author(s):  
Aslı Eldem ◽  
Tülay Kılıçaslan Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
İbrahim Pirim
Keyword(s):  
High Resolution ◽  
Patient Group ◽  
Human Leukocyte ◽  
Control Group ◽  
Related Factor ◽  
Genotype Frequencies ◽  
Restriction Fragment Polymorphism ◽  
Hla Dq ◽  
Hla Dqa1 ◽  
And Control

AbstractCeliac disease (CD) is an autoimmune enteropathy in the small intestine caused by gluten intolerance of the patients. The most important genetic disease-related factor is human leukocyte antigen (HLA)-DQ polymorphism. Association between interleukin (IL)-17A expression of CD4+ T cells and various autoimmune diseases has been reported. The aim of this study was to investigate the relationship between single nucleotide polymorphism (rs2275913) IL-17A and HLA-DQ polymorphisms in Turkish pediatric celiac patients. Study group included 125 pediatric celiac patients with CD and 100 healthy pediatric controls. Deoxyribonucleic acid was isolated from peripheral blood samples. IL-17A polymorphism (rs2275913) was analyzed by polymerase chain reaction-restriction fragment polymorphism method. IL-17A polymorphism and low-/high-resolution HLA-DQ results of patients were evaluated. GG and GA genotype frequencies of IL-17A (rs2275913) polymorphism were significantly higher (p < 0.05) in the CD patients than the control group. HLA-DQB1*02 and HLA-DQA1*05 alleles were detected in patients, while HLA-DQB1*03 and HLA-DQA1*01 alleles in the control group. Also, when we compared the patient and control groups in terms of HLA-DQ-DR haplotypes, HLA-DQB1*02-DQA1*05-DRB1*03 was found with the relative risk of 42.5 (p < 0.05). As a result of high-resolution HLA-DQB1 typing, DQB1*02:01 and DQB1*03:02 were at high frequency (p < 0.05; in 25 patient group). IL-17A (rs2275913) polymorphism genotype frequency was found to be significant in the patient group compared with the control group. The most common HLA-DQB1 suballele was observed as DQB1*02:01.

scholarly journals The relationship between human leukocyte antigens (HLA) and renal cell carcinoma

2010 ◽  
Vol 10 (4) ◽  
pp. 282-286 ◽  
Author(s):  
Erkan Yılmaz ◽  
Arman Çekmen ◽  
Emre Akkuş ◽  
Bülent Önal ◽  
Ali Uğur Özalp ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Patient Group ◽  
Renal Cell ◽  
Human Leukocyte ◽  
Control Group ◽  
Human Leukocyte Antigens ◽  
Leukocyte Antigens ◽  
The People ◽  
The Relationship

Etiologies of Renal Cell Carcinoma (RCC) are not clear despite of the fact that many risk factors have been suggested. Especially in high stages RCC can affect the immune system in various ways. Human Leukocyte Antigens (HLA) may play a complementary role in the activation between the tumor and immunity. Our aim was to determine the existence of the relationship between HLA system and RCC. By using the standard microlymphocytotoxic method of Terasaki in our study, the HLA A, B, DR and DQ antigen types of 20 patients with RCC Stage Ti and T2 were compared with the control group consisting of healthy 30 people. In our RCC patient group, HLA-A23(9) and DQ7(3) antigens were significantly higher than the control group statistically (p=0.005, p=0.0028; respectively). HLA-A10, DQi, DR10 and B44 antigens were significantly higher in the control group than the patient group (p=0.011; for all). The findings made us suggest that the people, carrying the antigens which were detected in the patient group, were at high risk for RCC and the people, carrying the protective antigens that were detected in the control group were at less risk for RCC. There may be a dramatic regression for the patients who underwent immunotherapy and HLA expression, which is known to play role in tumor biology, may direct the effects of immunotherapeutic agents. Immunologic description and destruction is avoided in case of change or disappearance of HLA expression by cancer cells. Further investigations which will be performed in our population in the future will be more illuminating to confirm those results. We have concluded that, HLA profiles may be evaluated for detection the people at risk of RCC, the prognosis of the patients and their treatments.

scholarly journals Polymorphisms of pleiotropic genes ABCC11 and ACE in Abkhazians and the longevity phenomenon

2019 ◽  
pp. 29-36
Author(s):  
С.В. Макаров ◽  
М.К. Карапетян ◽  
К.Б. Квеквескири ◽  
В.А. Спицын
Keyword(s):  
Multiple Drug Resistance ◽  
Control Group ◽  
Multiple Drug ◽  
Ace Gene ◽  
Caucasus Region ◽  
Gene Insertion ◽  
Vital Functions ◽  
Genotype Frequencies ◽  
Age Related ◽  
And Control

Изучение наследственных факторов в детерминации долголетия представляется весьма актуальным в связи с ростом средней продолжительности жизни, поиском возможностей продления «здорового» периода в позднем отногенезе. Феномен высокой продолжительности жизни всегда вызывал особый интерес исследователей, а его изучение представляется наиболее перспективным в популяциях с достаточно большой долей долгожителей. С давних времен известны случаи ярко выраженного активного долголетия в регионе Кавказа. У долгожителей Абхазии темпы соматического развития, уровень обменных процессов и меньшая интенсивность возрастной инволюции скелета указывали на относительно «здоровый» тип старения. Среди генетических факторов, которые потенциально могли бы играть важную роль в достижении долголетия, особенно перспективным представляется изучение плейотропных генов, действие которых проявляется во множественных эффектах и обладающих высокой функциональной значимостью. Среди них особый интерес представляют те, которые определяют эффективность функционирования сердечно-сосудистой системы, а также особенности, влияющие на темп созревания и старения организма. К числу таких генов можно отнести ген ангиотензин-превращающего фермента (ACE) и ген множественной лекарственной устойчивости (ABCC11). Целью исследования был поиск закономерностей в характере распределения полиморфных вариантов плеойтропных генов ABCC11 и ACE в популяции абхазов в связи с возрастом обследуемых и наличием долгожителей в выборке. В качестве материала исследования были собраны образцы клеток буккального эпителия от коренных жителей Абхазии, подразделенных на две группы: старшего возраста (75-101 год, 79 человек) и контрольную ( 97 индивидов в возрасте от 16 до 33 лет ). Анализ распределений частот генотипов и аллелей полиморфизма 538G>A (rs17822931) гена ABCC11 показал, что группы старшего возраста и контроля очень сходны между собой и достоверные различия между выборками отсутствуют. Генотипирование по инсерционно-делеционному полиморфизму гена ACE (rs1799752) осуществлялось методом ПЦР-ПДАФ. Для контрольной группы абхазов установлены следующие частоты генотипов: II = 0,186; ID = 0,412; DD = 0,402, частоты аллелей I и D оказались равны 0,392 и 0,608 соответственно. Группа старшего возраста по частотам генотипов существенно не отличалась от контроля, генотипы II/ID/DD были распределены в соотношении 0,088/0,380/0,532, а частоты аллелей I и D оказались равны 0,278 и 0,722 соответственно. В результате исследования выявлено, что частота аллеля делеции по инсерционно-делеционному полиморфизму в гене ACE в старшей возрастной группе абхазов достоверно повышена по сравнению с контрольной группой. The study of the phenomenon of longevity is the most promising in populations with a fairly large proportion of centenarians. Since old times cases of pronounced active longevity have been widely known in the Caucasus region. The complexity of age-related processes of aging assumes the involvement of multiple complex factors that have affect on life expectancy. Therefore the study of the pleiotropic genes with their multiple effects and functions could be helpful in that case. The angiotensin I-converting enzyme (ACE) gene and the multiple drug resistance gene ( ABCC11) are of great interest because of their high importance for essential vital functions. The aim of the study was the search for correlations in the frequencies distribution of polymorphic variants of pleoitropic genes ABCC11 and ACE in the population of Abkhazians with the longevity. The material included the DNA samples from indigenous residents of Abkhazia. They were divided into two groups: older age (N = 79) and control (N = 97). The differences in the frequencies distribution of 538G>A genotypes and alleles of the gene ABCC11 in the older group and control were not significant. ACE gene insertion-deletion polymorphism ( rs1799752) genotyping was performed by PCR-AFLP. The genotype frequencies were : II = 0.186; ID = 0.412; DD = 0.402, allele frequencies I and D were equal to 0.392 and 0.608 for the control group of Abkhazians. The older group did not differ significantly from the control in genotype frequencies, the ratio for II/ID/DD genotypes were as 0.088/0.380/0.532, and the frequencies of alleles I and D corresponded to 0.278 and 0.722. The obtained results revealed that the ACE gene deletion allele frequency was significantly increased in the older group of Abkhazians.

The G allele in IL-10-1082 G/A may have a role in lowering the susceptibility to panic disorder in female patients

2016 ◽  
Vol 28 (6) ◽  
pp. 357-361 ◽  
Author(s):  
Han-Joon Kim ◽  
Yong-Ku Kim
Keyword(s):  
Panic Disorder ◽  
Patient Group ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Patients ◽  
Immune System Activation ◽  
Tnf Α ◽  
System Activation ◽  
And Control

BackgroundImmune system activation is involved in the pathophysiology of panic disorder (PD). We investigated INF-γ+874 A/T, TNF-α-308 G/A, and IL-10-1082 G/A single nucleotide polymorphisms (SNPs) to determine their association with PD.MethodThis study enroled 135 PD patients and 135 healthy controls. INF-γ+874 A/T (rs2430561), TNF-α-308 G/A (rs1800629), and IL-10-1082 G/A (rs1800896) were genotyped.ResultsThere were no differences in genotypes or allele frequencies between the patient and control groups, regardless of accompanying agoraphobia. However, for female patients, the G allele frequency in IL-10 SNP was higher in the control group than in the patient group. Additionally, the female control group had a higher frequency of the A/G and G/G genotype in the IL-10 SNP than the female patient group.ConclusionWe suggest that the G allele in IL-10-1082 G/A might have a role in reducing the manifestations of PD in female patients. Further studies are needed to extend and confirm our findings.

scholarly journals Polymorphism ofXRCC1,XRCC3, andXPDGenes and Risk of Chronic Myeloid Leukemia

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Claudia Bănescu ◽  
Adrian P. Trifa ◽  
Smaranda Demian ◽  
Erzsebeth Benedek Lazar ◽  
Delia Dima ◽  
...  
Keyword(s):  
Complementation Group ◽  
Control Group ◽  
X Ray ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Variant Genotype ◽  
Group 3 ◽  
And Control ◽  
Group D ◽  
Repair Genes

The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross complementing group 3 (XRCC3), and xeroderma pigmentosum complementation group D (XPD) repair genes may lead to genetic instability and leukemogenesis. The purpose of the study was to evaluate the association betweenXRCC1Arg399Gln, Arg280His and Arg194Trp,XRCC3Thr241Met, andXPDLys751Gln polymorphisms and the risk of developing CML in Romanian patients. A total of 156 patients diagnosed with CML and 180 healthy controls were included in this study. We found no association between CML andXRCC1orXRCC3variant genotypes in any of the investigated cases. A significant difference was observed in the variant genotype frequencies of theXPDLys751Gln polymorphism between the patients with CML and control group (for variant homozygous genotypes,OR=2.37; 95%CI=1.20–4.67;Pvalue = 0.016 and for combined heterozygous and variant homozygous genotypes,OR=1.72; 95%CI=1.10–2.69;Pvalue = 0.019). This was also observed when analyzing the variant 751Gln allele (OR=1.54; 95%CI=1.13–2.11;Pvalue = 0.008). Our results suggest that theXPDLys751Gln variant genotype increases the risk of CML.

scholarly journals Association of human leukocyte antigen (HLA)-DQ and HLA-DQA1/DQB1 alleles with Vogt–Koyanagi–Harada disease

Medicine ◽  
2018 ◽  
Vol 97 (7) ◽  
pp. e9914 ◽  
Author(s):  
Bing Liu ◽  
Tuo Deng ◽  
Linxin Zhu ◽  
Jingxiang Zhong
Keyword(s):  
Human Leukocyte Antigen ◽  
Human Leukocyte ◽  
Leukocyte Antigen ◽  
Hla Dq ◽  
Hla Dqa1

scholarly journals Distinguishing and Biochemical Phenotype Analysis of Epilepsy Patients Using a Novel Serum Profiling Platform

2020 ◽  
Vol 10 (8) ◽  
pp. 504
Author(s):  
Jay S. Hanas ◽  
James R. S. Hocker ◽  
Christian Vannarath ◽  
Betcy Evangeline ◽  
Vasudevan Prabhakaran ◽  
...  
Keyword(s):  
Patient Group ◽  
Structural Changes ◽  
Control Group ◽  
Ionization Mass ◽  
Epilepsy Patient ◽  
Control Groups ◽  
Serum Profiling ◽  
Phenotype Analysis ◽  
Symptomatic Epilepsy ◽  
And Control

Diagnosis of non-symptomatic epilepsy includes a history of two or more seizures and brain imaging to rule out structural changes like trauma, tumor, infection. Such analysis can be problematic. It is important to develop capabilities to help identify non-symptomatic epilepsy in order to better monitor and understand the condition. This understanding could lead to improved diagnostics and therapeutics. Serum mass peak profiling was performed using electrospray ionization mass spectrometry (ESI-MS). A comparison of sera mass peaks between epilepsy and control groups was performed via leave one [serum sample] out cross-validation (LOOCV). MS/MS peptide analysis was performed on serum mass peaks to compare epilepsy patient and control groups. LOOCV identified significant differences between the epilepsy patient group and control group (p = 10−22). This value became non-significant (p = 0.10) when the samples were randomly allocated between the groups and reanalyzed by LOOCV. LOOCV was thus able to distinguish a non-symptomatic epilepsy patient group from a control group based on physiological differences and underlying phenotype. MS/MS was able to identify potential peptide/protein changes involved in this epilepsy versus control comparison, with 70% of the top 100 proteins indicating overall neurologic function. Specifically, peptide/protein sera changes suggested neuro-inflammatory, seizure, ion-channel, synapse, and autoimmune pathways changing between epilepsy patients and controls.

Evaluation of the quality-of-life (QOL) and socio-demographic characteristics of patients with leukemia and lymphoma: Comparison with sibling and control group.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e22524-e22524
Author(s):  
Nurdan Tacyildiz ◽  
Tugba Karakose ◽  
Emel Cabi Unal ◽  
Handan Dincaslan ◽  
Gulsah Tanyildiz ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Patient Group ◽  
Active Treatment ◽  
Healthy Control Group ◽  
Control Group ◽  
Healthy Children ◽  
Healthy Control ◽  
And Control ◽  
Sibling Group

e22524 Background: Pediatric cancer patients have increased survival rates with intensive and effective treatment methods which causing some chronic health problems and lower quality of life in long term follow up. In our study, patients in their active treatment period compared to patients who have completed their treatment in recent 5 years and more than 5 years groups, besides compared with their own siblings and healthy control group,evaluated in terms of quality of life ( QOL). Methods: This study has been daone in the Department of Pediatric Hematology-Oncology, Ankara University School of Medicine. A total of 191 children were included in the study, including 36 sibling, 76 children with leukemia (n:31) and lymphoma (n:45) besides 79 healthy children. The Turkish translation of the PedsQL questionnaire was used to evaluate the patients' quality of life. IBM SPSS-25 package program was used for statistical analysis. Results: When the sociodemographic characteristics of the patient, sibling and control group were examined; we determined that the patients, siblings and control groups were similar in age, age and gender. However, we found that the education level for the patient group was statisticaly signicantly lower then the siblings and the control group. In addition, physical and mental functionning and friendship capasity scores were lower in patient group than the other two groups. According to timing of the treatment; patients and parents quality of life scores were significantly lower than the patients that finished their treatment in recent 5 years or more than 5 years. QOL scores were higest in survivors and parents group that were in more than 5 years after completed the treatment. The risk of lower QOL in patients under treatment was 7.48 times higher than the children who had ≥5 years of treatment (OR = 7,48; p < 0,05), and 2.64 times higher than those who were treated < 5 years (OR = 2,64; p > 0,05). In this study, there were no independent variables that had an impact on QOL of the sibling group. Conclusions: The QOLof patients diagnosed with leukemia and lymphoma is significantly lower than siblings and healthy group. No statistically significant difference was found between the sibling group and the healthy control group. After the end of active treatment, the QOL of the patients was reflecting important increase by the time .

Self-Descriptions of Patients with Coronary Disease

1968 ◽  
Vol 26 (3_suppl) ◽  
pp. 1099-1107 ◽  
Author(s):  
Helen P. Klein ◽  
Oscar A. Parsons
Keyword(s):  
Coronary Disease ◽  
Patient Group ◽  
Control Group ◽  
Coronary Patients ◽  
Mood Scale ◽  
Almost All ◽  
And Control ◽  
Comparable Period ◽  
Over Time

Current self-descriptions of coronary patients and control Ss were obtained on the Clyde Mood Scale. Comparison was made with retrospective self-descriptions, i.e., just prior to the coronary attack for the patients and a comparable period of time for the control group. In addition, spouses' descriptions of Ss for the same periods were obtained. In comparison to controls, the coronary Ss were more “depressed” and “anergic” for both periods. Spouses described patients as more “anergic” following the coronary. Significant correlations in the patient group between the two periods were found on positive subscales but not on “depressed,” “anergic” or “jittery.” Correlations in the control group between the two periods were significant for almost all subscales. It was concluded that the coronary attack has an impact on the patient which does not dissipate over time and that patients react to this impact differentially depending on their defensive systems.

scholarly journals Biomarkers of Oxidative Stress in Major Depressive Disorder

2020 ◽  
Vol 8 (B) ◽  
pp. 501-506
Author(s):  
Rania A. Hamed ◽  
Heba A. Elmalt ◽  
Abeer A. Salama ◽  
Sarah Y. Abozaid ◽  
Amani S. Ahmed
Keyword(s):  
Oxidative Stress ◽  
Major Depressive Disorder ◽  
Depressive Disorder ◽  
Patient Group ◽  
Rating Scale ◽  
Control Group ◽  
Related Factor ◽  
Major Depressive ◽  
Duration Of Illness ◽  
Number Of Patients

BACKGROUND: Many data support that oxidative stress and inflammation represent a pathway to pathology in a number of depressed patients. Therefore, investigating this pathway presents an area for developing potential therapeutic strategies for depression. AIM: This study compares the serum level of malondialdehyde (MDA), superoxide dismutase (SOD), and nuclear factor erythroid 2-related factor 2 (Nrf2) in depressed and non-depressed subjects and correlate between their levels with severity of disorder, socio-demographic characteristics, previous hospitalization, and number of episodes. METHODS: A total of 60 patients diagnosed with major depressive disorder (MDD) from the Psychiatric Outpatient Clinic in Al-Zahra University Hospital, Cairo, Egypt, during the period from July 1, 2018, to December 31, 2018. A cross-matched control group of 60 subjects was selected from employers working in the hospital, complete psychiatric history, Hamilton Depression rating scale was done and serum levels of MDA, Nrf2, and SOD were estimated. RESULTS: No statistical difference between patient and control group was observed regarding age, sex, education, and marital status. The number of patients with mild depression was 28 (46.7%), moderate depression 18 (30%), and severe depression 14 (23.3%). The mean duration of illness in years was 6.13, and mean number of episodes was 3.66. MDA level was significantly elevated in the patient group than the control one. Meanwhile, SOD and Nrf2 were significantly lower in the patient group than the control. There was significant relationship between duration of illness and number of episodes and MDA, Nrf2, and SOD levels. CONCLUSION: Our results indicate that oxidative stress can attribute to the occurrence of MDD.

scholarly journals The importance of genetic factors in the development of celiac disease in children of the Uzbek population

2020 ◽  
pp. 22-27
Author(s):  
Z.M. Abdujabarova ◽  
◽  
A.T. Kamilova ◽  
Keyword(s):  
Celiac Disease ◽  
Relative Risk ◽  
Medical Center ◽  
Class Ii ◽  
Control Group ◽  
Population Genetic Study ◽  
Hla Dq ◽  
Sick Children ◽  
Hla Dqa1 ◽  
Relationship Of

The results of genetic studies have proven the relationship of celiac disease with class II genes of the major histocompatibility complex (HLA), in particular with the DQ locus. The presence of specific alleles at the HLA-DQ locus is necessary, but insufficient, for the realization of the disease phenotype. In Uzbekistan, the distribution of HLA markers in children with celiac disease has not been studied and these studies are required. Purpose — to establish the peculiarities of the distribution of HLA II class celiac disease alleles in children in the Uzbek population. Materials and methods. We examined 54 children with celiac disease of the Uzbek population, who were registered and receiving inpatient treatment at the Republican Specialized Scientific and Practical Medical Center of Pediatrics. The age of the examined children was from 1 to 14 years old, the average age was 7.3±1.9 years. The control group consisted of 109 unrelated Uzbeks without immune diseases. Molecular typing of HLA II class genes was determined by DNA chain reaction polymerase. Results. As a result of gene typing, 48 (88.8%) out of 54 investigated had DQ2 and DQ8 haplotypes associated with celiac disease. Haplotypes with only DQ2 and DQ8 were found in 19 (39.5%) and 7 (14.5%), respectively. DQ2 from 48 children was found in 18 (37.5%) children in the trans-position, in 2 (4,1%) — as two copies of DQ2 dimers, and in 1 (2%) case in combination with DQ8. Only in one case (2%) was DQ8 found as two copies of DQ8 dimers. The frequency of occurrence of the HLA-DRB1*07 and *13 alleles was significantly higher than in the control group. The maximum value of the relative risk and the criterion of reliability are noted in the DQA1*0501 allele, i.e. it is positively associated with celiac disease (χ2=7.28, RR=2.03). Significance criterion and relative risk were observed in sick children with DQB1*0201 (χ2=6.74, RR=1.97) associated with celiac disease. The number of haplotype (DQA1*0501-DQB1*0201) was 36 (75%). Conclusions. A specific predisposition to celiac disease in children of the Uzbek population is associated with the genes HLA-DQA1*0501, HLA-DQB1*0201, HLA-DRB1*07 and *13. Alleles such as DRB1*15, DQA1*0102, DQB1*0303 and *0502, have a protective effect in the development of celiac disease in children of the Uzbek population. A high frequency of carriage of the DRB1*13 — HLA-DQА1*0501 and DQB1*0201 (DQ2 type) haplotype in Uzbeks (75%) was found, which requires a more thorough population genetic study of the Uzbek population for the HLA II class DRB1-DQA1-DQB1 genes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: celiac disease, children, genetics, HLA class II.

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