scholarly journals Association of DRD2 (rs 1799732), ANKK1 (rs1800497), DAT (rs28363170), DRD4 (exon 3 - VNTR) gene polymorphisms in the context of relapses in therapy.

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Jolanta Chmielowiec ◽  
Agnieszka Boroń
Keyword(s):  
Dopamine Receptor ◽  
Treatment Center ◽  
Control Group ◽  
Special Role ◽  
Psychoactive Substances ◽  
Vntr Polymorphism ◽  
Genotype Frequencies ◽  
Addiction Therapy ◽  
Pcr Method ◽  
Therapy Center

Abstract Introduction: Disorders in the field of reward system neurotransmission are mentioned as one of the most important causes of addiction. Genetic variation is assigned a special role. The literature on the subject mentions primarily the genes of dopamine neurotransmission: DAT (dopamine transporter), DRD2 (dopamine receptor D2), DRD4 (dopamine receptor D4). However, so far there are few literature reports on these genes in the context of innovators in addiction therapy. The aim: Analysis of the relationship between the variability of specific polymorphisms in the DRD2 (rs1799732), ANKK1 (rs1800497), DAT (rs28363170), DRD4 (exon 3 - VNTR) genes with the occurrence of relapses in people addicted to psychoactive substances. Material and methods: The research was carried out on a group of 301 people addicted to psychoactive substances staying in an addiction therapy center in Lubuskie and Zachodniopomorskie voivodships in Poland. The control group consisted of 301 people with no diagnosed addiction to psychoactive substances nor mental disorders. The study of polymorphisms DRD2 (rs 1799732), ANKK1 (rs1800497) was performed by real-time PCR method; whereas DAT (rs28363170), DRD4 (exon 3 - VNTR) was genotyped by PCR and the amplified products were visualized using ethidium bromide stained gel electrophoresis (3% agarose) and UV photography. Results: This study showed that in addicts genotype frequencies of the VNTR polymorphism in the third exon of human DRD4 were as follow: S/L in 33.55%, S/S - 63.12% and L/L 3.32%; while in the control group S/L - 32.56%, S/S - 58.8 % and L/L -8.6% (χ2 = 7.617, p = 0.022). Significant differences in the frequency of DRD2 gene polymorphism rs1799732 were observed (frequency of alleles; χ2 = 5.48, p = 0.0192) and DRD4 VNTR polymorphism (χ2 = 7.687, p = 0.021) between the addicted to psychoactive substances who have a one-time stay in an inpatient treatment center and the control group.

scholarly journals Measurement of the dimensions of personality traits in patients addicted to psychoactive substances in context of relapses

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Krzysztof Chmielowiec ◽  
Agnieszka Boroń
Keyword(s):  
Personality Traits ◽  
High Intensity ◽  
Inpatient Treatment ◽  
Treatment Center ◽  
Moderate Intensity ◽  
Low Grade ◽  
Psychoactive Substances ◽  
Personality Dimension ◽  
Addiction Therapy ◽  
Therapy Center

Abstract Introduction: Recurrent use of psychoactive substances, including alcohol, affects most patients. It is an expression of the chronicity of the disease process. Understanding the causes of this phenomenon is the key to searching for effective therapeutic strategies for this disease. The aim: Analysis of individual dimensions of personality traits in patients in the context of relapses. Material and method: The research was carried out on a group of 301 people addicted to psychoactive substances staying in an addiction therapy center in Lubuskie and Zachodniopomorskie voivodships in Poland. The subjects were divided into two groups. The first group consisted of addicts with reported one-time therapy. The second group consisted of addicts who received at least two treatments at an addiction therapy center. The personality dimension was measured using the NEO-FFI questionnaire and the STAI questionnaire. Results: The following percentages of neuroticism (NF NEUR) were marked in people addicted to psychoactive substances with a single stay in an inpatient treatment center: 8.55% with low intensity, 40.13% with moderate intensity and 51.32% with high intensity. On the other hand, in people addicted to psychoactive substances with multiple stays in an inpatient treatment center, the features of low-grade neuroticism were found to be 6.85%, 25.34% of moderate and 67.81% of high intensity (χ2 = 8.643, p = 0.013). Conclusions: A higher score on the Nervousness Scale of the Neo FFI inventory has a significant impact on the course of addiction and the occurrence of relapses.

P-Selectin Glycoprotein Ligand-1 VNTR Polymorphisms in Systemic Sclerosis.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3914-3914
Author(s):  
Ozer Taranoglu ◽  
Veysel Hancer ◽  
Mehmet Kalender ◽  
Reyhan Diz-Kucukkaya ◽  
Murat Inanc
Keyword(s):  
Systemic Sclerosis ◽  
Tandem Repeats ◽  
Low Frequency ◽  
Variable Number ◽  
Control Group ◽  
Healthy Controls ◽  
Genotype Frequencies ◽  
Pcr Method ◽  
Variable Number Tandem Repeats ◽  
Vntr Polymorphisms

Abstract Systemic sclerosis (SSc) is a systemic connective tissue disease characterized by excessive fibrosis, vascular injury, autoimmunity and inflammation. P-selectin glycoprotein ligand-1 (PSGL-1) expressed on leukocytes and microparticles derived from myeloid cells is major counter-receptor for P-selectin. P-selectin and PSGL-1 crosslinking mediates interaction among leukocytes, platelets and endothelial cells during thrombosis, inflammation, and angiogenesis.It has been postulated that the recently defined “variable number tandem repeats” (VNTR) polymorphisms of the mucin-like region of PSGL-1 might effect the adhesion function by changing the interaction between P-selectin and PSGL-1. We aimed to investigate the distribution of PSGL-1 VNTR polymorphisms in SSc and to compare with the healthy controls in order to study the role of these polymorphisms in the pathogenesis of SSc and its complications. One hundred and fourteen SSc patients (102 women, 12 men) who fulfilled 1980 ACR preliminary criteria and 203 unrelated healthy controls (98 women, 105 men) were studied. Demographic and clinical characteristics of the patients were recorded by using a standart form. The study was approved by the local ethical committee and subjects signed informed consent documents. PSGL-1 polymorphisms were determined with PCR method (1). 4 genotypes were identified after genotyping according to bands in gel electrophoresis (AA, AB, BB, AC). Cumulative frequencies of A, B and C alleles in SSc were 77.2%, 21.5% and 1.3%, respectively and 82.4%, 15.4% and 2.2% in the control group. The AA, AB, BB and AC genotype frequencies were 59.6%, 32.5%, 5.3% and 2.6% in SSc and 70%, 21.2%, 4.9% and 3.9% in control group. 37 of 114 SSc patients were carrying the AB genotype (32.5% vs 21.2%, OR=1.79, 95% CI 1.07–3.0, p=0.027). B allele carriers were 37.7% in SSc and 26.1% in control group (OR=1.71, 95% CI 1.04–2.80, p=0.031). When two major disease subsets were considered, AB genotype was found to be more frequent in patients with limited cutaneous involvement (lSSc) (34.8% vs 21.2%, OR=1.99, 95% CI 1.084–3.65, p=0.025). However, the frequency of AB genotype in diffuse systemic sclerosis (dSSc) was similar to that of control group (p=0.75). Similarly, B allele carriers were more frequent in lSSc (40.9% vs 26.1%, OR=1.96, 95% CI 1.1–3.5, p=0.022). When the clinical and laboratory characteristics of patients were taken into consideration, AB genotype was significantly less frequent in anti-Scl70 positive patients compared to anti-Scl70 negative patients (21.8% vs. 42.9%, OR=0.37, 95% CI 0.16–0.85, p=0.018). Likewise, B allele carriers were less frequent in anti-Scl70 positive patients (29.4% vs. 49.1%, OR=0.43, 95% CI 0.19–0.96, p=0.038). The AB genotype was increased in patients with arthritis compared to patients with no arthritis (77.8% vs. 28.3%, OR=8.87, 95% CI 1.73–45.35, p=0.002). PSGL-1 VNTR polymorphisms were distributed significantly different in SSc and healthy controls when clinical subsets of SSc were analysed seperately. The AB genotype and B allele were significantly more frequent in lSSc. This finding was also supported by the low frequency of AB genotype and B allele in anti-Scl70 positive patients, which is more common in dSSc. PSGL-1 VNTR polymorphisms might play a role in the pathogenesis of lSSc by modifying leukocyte, platelet and endothelial cell interactions. Further research is needed to confirm the relationship with AB genotype and arthritis in SSc patients.

Association of the Risk of Dental Caries and Polymorphism of MBL2 rs11003125 Gene in Iranian Adults

2018 ◽  
Vol 53 (1) ◽  
pp. 60-64 ◽  
Author(s):  
Mohammad Javad Mokhtari ◽  
Fatemeh Koohpeima ◽  
Feyzollah Hashemi-Gorji
Keyword(s):  
Dental Caries ◽  
Control Group ◽  
Amplification Refractory Mutation System ◽  
Fars Province ◽  
Arms Pcr ◽  
Genotype Frequencies ◽  
Mutation System ◽  
Pcr Method ◽  
Larger Sample ◽  
Control Study

This case-control study aimed to investigate the effect of rs11003125 in dental caries. For this purpose, a total number of 404 individuals – from Fars Province in Iran – were studied. The technique of this research was the tetra-primer amplification-refractory mutation system (ARMS)-PCR. Dental caries prevalence among the 404 individuals was assessed by counting the number of decayed, missing, and filled teeth. In this research, individuals were divided into two groups: cases (n = 238) and controls (n = 166), and the peripheral blood samples were used to extract the genomic DNA. For genotyping of DNA, the tetra-primer ARMS-PCR method was conducted using specific primer pairs. While examining MBL2 rs11003125 polymorphism, we found significant differences in the genotype frequencies between the case and the control group. The pooled estimates indicated that the GG and GC genotypes of MBL2 rs11003125 polymorphism significantly increased, and therefore caries risk (OR = 2.40, 95% CI = 1.31–4.40, p = 0.004) under the dominant model. These findings suggested that polymorphism in MBL2 gene was associated with dental caries in Iranian adults. Further verification is needed with more ethnic groups and larger sample sizes to determine whether rs11003125 polymorphism is related to dental caries in other regions or not.

scholarly journals Association between VNTR Polymorphism in Promoter Region of Prodynorphin (PDYN) Gene and Methamphetamine Dependence

2015 ◽  
Vol 3 (3) ◽  
pp. 371-373 ◽  
Author(s):  
Khyber Saify ◽  
Mostafa Saadat
Keyword(s):  
Promoter Region ◽  
Blood Donors ◽  
Case Control Study ◽  
Control Group ◽  
Age And Gender ◽  
Vntr Polymorphism ◽  
Methamphetamine Dependence ◽  
Pcr Method ◽  
And Gender ◽  
Control Study

AIM: Prodynorphin (PDYN; OMIM: 131340) is the precursor of the dynorphin related peptides which plays an important role in drug abuse. Previous studies have been shown that the expression of PDYN is regulated by a genetic polymorphism of VNTR in the promoter region of the gene.MATERIALS AND METHODS: The present case-control study was performed on 52 (41 males, 11 females) methamphetamine dependence patients and 635 (525 males, 110 females) healthy blood donors frequency matched with the patients according to age and gender, as a control group was participated in the study.RESULTS: The genotypes of VNTR PDYN polymorphism were determined using PCR method. The HL (OR = 1.22, 95%CI: 0.67-2.20, P = 0.500) and LL (OR = 0.86, 95%CI: 0.28-2.57, P = 0.792) genotypes does not alter the risk of methamphetamine dependence, in comparison with the HH genotypes.CONCLUSION: The present study revealed no association between the VNTR polymorphism in the promoter region of the PDYN gene and methamphetamine dependence risk.

scholarly journals Analysis of Relationships between DAT1 Polymorphism Variants, Personality Dimensions, and Anxiety in New Psychoactive Substance (Designer Drug) (NPS) Users

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1977
Author(s):  
Jolanta Chmielowiec ◽  
Krzysztof Chmielowiec ◽  
Jolanta Masiak ◽  
Tomasz Pawłowski ◽  
Dariusz Larysz ◽  
...  
Keyword(s):  
Addiction Treatment ◽  
Designer Drug ◽  
New Psychoactive Substances ◽  
Control Group ◽  
Study Group ◽  
Psychoactive Substance ◽  
Psychoactive Substances ◽  
Treatment Facilities ◽  
Coping Motives ◽  
Pcr Method

The use of ‘new psychoactive substances’ appears to be increasingly common. The aim of this study was to examine biological and personality determinants in individuals who choose to use these substances, which may help in the prevention and treatment of psychoactive substance use disorders. The study group consisted of 374 male volunteers; all were users of ‘new psychoactive substances’ (NPS). The NPS users were recruited after they had abstained—for at least 3 months—from any substance of abuse in addiction treatment facilities. The NPS patients and the control subjects were examined by a psychiatrist using the Mini-International Neuropsychiatric Interview (M.I.N.I.), the NEO Five-Factor Personality Inventory (NEO-FFI), and the State-Trait Anxiety Inventory (STAI) scales. The real-time PCR method was used for genotyping. When we compared the controls with the study group, statistically significant interactions were found between DAT1 polymorphism, neuroticism, and NPS use. NPS use and DAT1 polymorphism were associated with a higher level of neuroticism on the NEO-FFI scale. The study group of NPS users showed a higher severity of anxiety symptoms, both in terms of trait and state, compared to the control group. The results may support the idea that neuroticism and anxiety correlate strongly with coping motives for using NPS.

IL-10-592 A/C Gene Polymorphism and Cytokine Levels are Associated with Susceptibility to Drug Resistance in Tuberculosis

2020 ◽  
Vol 8 (3) ◽  
pp. 103-112
Author(s):  
Atefeh SADEGHI SHERMEH ◽  
Majid KHOSHMIRSAFA ◽  
Ali-Akbar DELBANDI ◽  
Payam TABARSI ◽  
Esmaeil MORTAZ ◽  
...  
Keyword(s):  
Serum Levels ◽  
World Health ◽  
Control Group ◽  
Drug Resistant ◽  
Nucleotide Polymorphisms ◽  
Genotype Frequencies ◽  
Cytokine Levels ◽  
Ifn Γ ◽  
Health Organization ◽  
And Function

Introduction: Tuberculosis (TB) and especially resistant forms of it have a substantial economic burden on the community health system for diagnosis and treatment each year. Thus, investigation of this field is a priority for the world health organization (WHO). Cytokines play important roles in the relationship between the immune system and tuberculosis. Genetic variations especially single nucleotide polymorphisms (SNPs) impact cytokine levels and function against TB. Material and Methods: In this research SNPs in IFN-γ (+874 T/A) and IL-10 (-592 A/C) genes, and the effects of these SNPs on cytokine levels in a total of 87 tuberculosis patients and 100 healthy controls (HCs) were studied. TB patients divided into two groups: 1) 67 drug-sensitive (DS-TB) and 2) 20 drug-resistant (DR-TB) according to drug sensitivity test using polymerase chain reaction (PCR). For the genotyping of two SNPs, the PCR-based method was used and IFN-γ and IL-10 levels were measured by ELISA in pulmonary tuberculosis (PTB) and control group. Results: In -592A/C SNP, only two genotypes (AA, AC) were observed and both genotypes showed statistically significant differences between DR-TB and HCs (p=0.011). IL-10 serum levels in PTB patients were higher than HCs (p=0.02). The serum levels of IFN-γ were significantly higher in DS-TB patients than that of the other two groups (p<0.001); however, no significant differences were observed for allele and genotype frequencies in IFN-γ +874. Conclusions: Our results suggest that the SNP at -592 position of IL-10 gene may be associated with the susceptibility to DR-TB. However, further investigation is necessary. Keywords: Polymorphism, IFN-γ, IL-10, tuberculosis, drug-resistant tuberculosis

Сочетанные генотипы генов, кодирующих белки холецистокининергической системы и ферменты фолатного цикла в значительной степени связаны с мигренью

2020 ◽  
Author(s):  
J.E. Azimova ◽  
E.A. Klimov ◽  
E.A. Naumova ◽  
Z.G. Kokaeva ◽  
A.I. Zaitseva ◽  
...  
Keyword(s):  
Population Control ◽  
Statistical Significance ◽  
Episodic Migraine ◽  
Protective Role ◽  
Control Group ◽  
Maoa Gene ◽  
Specific Pcr ◽  
Genotype Frequencies ◽  
Biochemical Systems ◽  
Combined Genotypes

Перспективным в изучении биомаркеров мигрени может быть многолокусный анализ, в частности, анализ частот сочетанных генотипов. Цель исследования - поиск составных генетических биомаркеров индивидуальной предрасположенности к мигрени, полученных на основе полиморфизмов генов, уже показавших статистическую значимость при однолокусном ассоциативном анализе. Методика. Обследовано 155 пациентов с мигренью (104 пациента с эпизодической мигренью, 51 - с хронической мигренью), наблюдавшихся в Университетской клинике головной боли (Москва). Все пациенты - представители белой расы, жители Московского региона. Возраст пациентов - 30-50 лет. Контроль составили 365 необследованных лиц (популяционный контроль). Выявление исследуемых 22 генов (всего 31 SNP) осуществляли методом ПЦР, ПЦР-ПДРФ, аллель-специфичной ПЦР и ПЦР в реальном времени. Выявление ассоциированных с мигренью сочетанных генотипов проводили с использованием программы анализа полигенных данных APSampler v3.6. Результаты. Выявлено 8 сочетанных генотипов с высокой статистически значимой ассоциацией с мигренью (ОШ>20,0). В состав сочетанных генотипов вошли гены: CCKAR, CCKBR, COMT, MTHFR, MTR, MTRR. Так же выявлено 4 защитных сочетанных генотипа (ОШ<0,02), основным в которых является ген MAOA. Заключение. Полученные данные об ассоциированных с мигренью сочетанных генотипах указывают на значимую роль в патогенезе заболевания 2 биохимических систем: 1) холецистокининергической системы, регулирующей выброс и обратный захват дофамина, и 2) фолатного цикла, в ходе работы которого гомоцистеин метаболизируется в метионин. Результаты, полученные в данном исследовании, позволяют говорить о защитной роли аллеля VNT:R4 гена MAOA.Multilocus analysis, specifically, analysis of combined genotype frequencies may be promising in studying migraine biomarkers. The aim of the study was to search for composite genetic biomarkers, which would predict individual predisposition to migraine, obtained on the basis of gene polymorphisms that have already shown a statistical significance in a single-locus associative analysis. Methods. 155 patients with migraine aging 41.7 ± 12.5 who had been followed up at the University Clinic of Headache, Moscow, were evaluated (104 patients with episodic migraine and 51 with chronic migraine). All patients were white and residents of the Moscow region. The control group included 365 unexamined individuals (population control). Identification of The 22 genes under study (total, 31 SNPs) were identified by PCR, PCR-RFLP, allele-specific PCR, and real-time PCR. Combined genotypes associated with migraine were identified using the APSampler v3.6 software for polygenic data analysis. Results. Eight combined genotypes were identified with a highly significant association with migraine (OR> 20.0). The combined genotypes included the CCKAR, CCKBR, COMT, MTHFR, MTR, and MTRR genes. Four protective combined genotypes were also identified (OS <0.02) with the MAOA gene as the major one. Conclusion. Our data on migraine-associated combined genotypes indicate a significant role in the migraine pathogenesis of two biochemical systems, i) the cholecystokininergic system that regulates the release and reuptake of dopamine, and ii) the folate cycle, where homocysteine is metabolized to methionine. The results obtained in this study suggest a protective role of the VNT: R4 allele of the MAOA gene.

ВЛИЯНИЕ КОМПЛЕКСНОЙ МИНЕРАЛЬНО-ВИТАМИННОЙ КОРМОВОЙ ДОБАВКИ НА ГЕМАТОЛОГИЧЕСКИЕ И БИОХИМИЧЕСКИЕ ПОКАЗАТЕЛИ КРОВИ ТЕЛЯТ

2020 ◽  
Author(s):  
M.T. SABITOV ◽  
A.R. FARKHUTDINOVA ◽  
M.G. MALIKOVA ◽  
N.G. FENCHENKO ◽  
N.I. KHAIRULLINA ◽  
...  
Keyword(s):  
Animal Feed ◽  
Food Additives ◽  
Test Group ◽  
Feed Additives ◽  
Feed Additive ◽  
Control Group ◽  
Special Role ◽  
Young Stock ◽  
Black And White ◽  
Calcium Phosphorus

Изучена целесообразность использования в рационах телят черно-пестрой породы комплексной минерально-витаминной кормовой добавки (КМВКД). Установлено пониженное содержание в кормах таких элементов, как кальций, фосфор, магний, сера, марганец, медь, цинк и кобальт. Соотношение питательных и минеральных веществ, степень их доступности для усвоения организмом не обеспечивают их потребность. Использование КМВКД способствовало улучшению всех гематологических показателей. Все испытываемые рецепты, имеющие в своем составе разные варианты макро-, микроэлементов и витаминов положительно влияют на обменные про- цессы в организме животных. У молодняка опытной группы, получавшей подкормку по рецепту 1, количество эритроцитов в сравнении с животными контрольной группы увеличилось на 6,6, гемоглобина на 6,93 соответственно, по рецепту 2 11,05 и 11,39 по рецепту 3 16,75 и 15,27, то есть соотношение макро- и микроэлементов, имеющихся в составе КМВКД и взаимодействие между собой меди, железа и кобальта сыграли особую роль на концентрацию форменных элементов. У молодняка, получавшего подкормку по рецепту 1 количество общего белка в сравнении с животными контрольной группы увеличилось на 1,99, кальция на 16,02, каротина на 10,92 соответственно, по рецепту 2 4,91, 25,96 и 19,12 по рецепту 3 на 3,58, 27,07 и 20,21. Значительное повышение содержания белка, кальция, фосфора и каротина по сравнению с животными контрольной группы объясняется тем, что недостаток их в рационах восполнялся за счет используемой подкормки, в результате их содержание увеличилось в сыворотке, но не выходило за пределы нормативных данных и соответствовало физиологическим нормам.Practicability of using a complex mineral and vitamin feed additive (CMVFA) in the ration of black-and-white calf breed was studied. Decreased content of such elements as calcium, phosphorus, magnesium, sulfur, manganese, copper, zinc, and cobalt was registered. The correlation of nutritive and mineral substances, and the level of their availability for digestion did not provide for their need. CMVFA use facilitated the increase of all hematologic parameters. Tested recipes which had different content of sapropel and zeolite, as well as various types of macronutrients, microelements, and vitamins, positively influenced the digestive processes in animal bodies. Young stock from the test group that was receiving food additives according to recipe No. 1 showed 6.6 increase in the quantity of red blood cells compared to control group animals, and 6.93 increase in hemoglobin quantity the ones who were fed according to recipe No. 2 demonstrated the increase by 11.05 and 11.39 recipe No. 3 showed 16.75 and 15.27 increase, which means that the ratio of macronutrients and microelements present in CMVFA and the mutual interaction of copper, iron, and cobalt played a special role in the concentration of formed elements due to the fact that they are integral elements of blood. Total protein of young stock that was receiving food additives according to recipe No. 1 was 1.99 higher than in test group animals calcium 16.02 higher carotene 10.92 as for recipe No. 2 the values were increased by 4.91, 25.96, and 19.12 recipe No. 3 3.58, 27.07, and 20.21. Substantial increase in the content of protein, calcium, phosphorus, and carotene compared to control group animals can be explained by the fact that their insufficiency in animal feed was replenished due to the use of feed additives, and as a result their content increased in the serum but did not go beyond the norm and corresponded to physiological norms.

scholarly journals Association of Genetic Polymorphisms and Serum Levels of IL-6 and IL-8 with the Prognosis in Children with Neuroblastoma

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 529
Author(s):  
Silvia Selene Moreno-Guerrero ◽  
Arturo Ramírez-Pacheco ◽  
Luz María Rocha-Ramírez ◽  
Gabriela Hernández-Pliego ◽  
Pilar Eguía-Aguilar ◽  
...  
Keyword(s):  
Overall Survival ◽  
Genetic Polymorphisms ◽  
Poor Prognosis ◽  
Serum Levels ◽  
Control Group ◽  
Mexican Children ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
The Impact ◽  
Circulating Levels

There is evidence that high circulating levels of IL-6 and IL-8 are markers of a poor prognosis in various types of cancer, including NB. The participation of these cytokines in the tumor microenvironment has been described to promote progression and metastasis. Our objective was to evaluate the prognostic role of genetic polymorphisms and serum levels of IL-6 and IL-8 in a cohort of Mexican pediatric patients with NB. The detection of the SNPs rs1800795 IL-6 and rs4073 and rs2227306 IL-8 was carried out by PCR-RFLP and the levels of cytokines were determined by the ELISA method. We found elevated circulating levels of IL-8 and IL-6 in NB patients compared to the control group. The genotype frequencies of the rs1800795 IL-6 and rs4073 IL-8 variants were different between the patients with NB and the control group. Likewise, the survival analysis showed that the GG genotypes of rs1800795 IL-6 (p = 0.014) and AA genotypes of rs4073 IL-8 (p = 0.002), as well as high levels of IL-6 (p = 0.009) and IL-8 (p = 0.046), were associated with lower overall survival. We confirmed the impact on an adverse prognosis in a multivariate model. This study suggests that the SNPs rs1800795 IL-6 and rs4073 IL-8 and their serum levels could be promising biomarkers of a poor prognosis, associated with overall survival, metastasis, and a high risk in Mexican children with NB.

scholarly journals Elite athletes and the gene for angiotensin-converting enzyme

1999 ◽  
Vol 87 (3) ◽  
pp. 1035-1037 ◽  
Author(s):  
Roger R. Taylor ◽  
Cyril D. S. Mamotte ◽  
Kieran Fallon ◽  
Frank M. van Bockxmeer
Keyword(s):  
Angiotensin Converting Enzyme ◽  
Indirect Evidence ◽  
Cardiovascular Complications ◽  
Genotype Frequency ◽  
Community Control ◽  
Control Group ◽  
Converting Enzyme ◽  
Athletic Ability ◽  
Genotype Frequencies ◽  
Ace Genotype

The deletion (D) allele of the gene for angiotensin-converting enzyme (ACE) is associated with higher plasma and tissue levels of the enzyme and has also been related to a variety of cardiovascular complications, particularly myocardial infarction. On the basis of indirect evidence, we hypothesized that inheritance of the D allele would contribute to elite athletic ability. Over a period of 4 yr, 120 Caucasian athletes who were national (Australian) representatives in sports demanding a high level of aerobic fitness were recruited. Their ACE genotypes were compared with those of a community control group recruited randomly from the electoral roll. There was no difference in ACE genotype frequencies between the two groups. The DD genotype frequency was 30% in athletes and 29% in the control group, and the II genotype frequency was 22.5 and 22%, respectively. The results do not exclude the possibility that ACE genotype could be related to some attribute relating to a specific type of elite athletic ability or that there may be a difference between genders. Larger studies are desirable.

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