02. Master's Thesis
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Item Embargo “AI REGULATION IN HEALTHCARE: RECOMMENDATIONS FOR KAZAKHSTAN”(Nazarbayev University School of Medicine, 2025-04) Imanaliyeva, IndiraThis paper explores the regulatory challenges and opportunities with the integration of artificial intelligence (AI) into Kazakhstan’s healthcare system in regulatory aspects. While generative AI technologies promise significant improvements in diagnosis, rehabilitation, and administrative processes, they also raise critical concerns about transparency, data privacy, algorithmic bias, and accountability. The study employs a systematized scoping review guided by PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) to ensure the rigour and transparency in identifying and analysing relevant literature. Through this structured review process and comparative policy analysis, the research examines global AI governance frameworks—including those of the EU, USA, China, and Russia—and assesses their applicability within Kazakhstan’s context. Drawing from over 50 academic and policy sources, the study identifies five key pillars of responsible AI regulation: risk-based classification, transparency and explainability, legal accountability, ethical governance, and fairness in algorithmic outcomes. It reveals that Kazakhstan lacks formal legal provisions in these areas and proposes a phased, contextsensitive regulatory framework grounded in international best practices. The findings underscore the urgent need for clear legal definitions, institutional oversight, ethical safeguards, and inclusive datasets to ensure the safe and equitable deployment of AI technologies in healthcare. Ultimately, this study contributes a practical roadmap for policy development, institutional reform, and stakeholder engagement, enabling Kazakhstan to govern healthcare AI in a manner that is ethical, effective, and future-oriented.Item Open Access AI-BASED PRESCRIPTIVE SYSTEM FOR INDIVIDUALS OPTIMIZED AND NORMALIZED EVALUATION FROM ELITE- REFERENCED BUTTERFLY SWIMMING (AI-PIONEER). PROOF OF THE CONCEPT(Nazarbayev University School of Medicine, 2025-03-19) Ultarakova, YenlikTraditional methods of performance assessment in sports are often subjective, time consuming and require complex expertise to interpret the data accurately. To alleviate current limitations, artificial intelligence, utilizing advanced techniques, presents a promising solution by automating motion analysis, reducing human bias, and improving the accuracy of performance assessment. This study aims to address the challenge of predicting temporally coherent IMU sequences representing optimal swimming butterfly stroke cycle for amateur athletes, conditioned on static body parameters and kinematic dry swimming parameters extracted from IMU sensors. The objective is to transform a low-dimensional input vector, consisting of 21 static features, into high-resolution temporal output sequences, represented as [T time steps × 48 IMU channels], where each of the 8 sensors records 6 values (three for acceleration and three for angular velocity). The proposed Physics-Informed Conditional Variational Autoencoder (CVAE) system demonstrates the potential to simulate elite-referenced movement patterns for non-elite athletes, providing a tool for optimizing butterfly swimming technique. While the ML architecture shows promise in learning from limited data and integrating biomechanical reasoning, the current implementation faces challenges, primarily due to the small dataset size which affects generalizability, the use of dry-land data collection instead of actual swimming, which affect the accuracy and applicability of the model in real swimming scenarios, and the low fidelity of generated sequences, which limits practical use. Thus, this study should be considered a proof of concept rather than a fully deployable solution.Item Embargo AI-GENERATED DIETARY GUIDANCE FOR CHRONIC KIDNEY DISEASE: A COMPARATIVE EVALUATION OF CHATGPT, COPILOT, AND GEMINI(Nazarbayev University School of Medicine, 2025-04-22) Kairat, MakpalBackground: Chronic kidney disease (CKD) requires strict dietary management tailored to disease stage and individual needs. Recent advances in artificial intelligence (AI) have introduced chatbot-based tools capable of generating dietary recommendations. However, their accuracy, personalization, and practical applicability in clinical nutrition remain largely unvalidated, particularly in non-Western settings. Objective: This study aimed to comparatively evaluate the dietary recommendations generated by three leading AI chatbots: GPT-4 (OpenAI), Gemini (Google), and Copilot (Microsoft), for patients with CKD stages 1 to 5. Methods: Standardized patient profiles representing each CKD stage were developed and used to prompt each AI model with the same culturally adapted request for meal planning. AI-generated diets were evaluated by three physicians using a 5-point Likert scale across three criteria: personalization, consistency with guidelines, practicality and availability. Descriptive statistics, Kruskal–Wallis tests, and Dunn’s post hoc tests were performed to compare model performance. Additionally, a detailed nutritional analysis of four meal plans (Initial, GPT-4, Gemini, Copilot) was conducted for Stage 3 CKD using both GPT-4 estimates and manual calculations validated against clinical dietary sources. Results: Gemini achieved the highest overall scores, particularly in personalization (mean = 3.91), followed by GPT-4 and Copilot. Statistically significant differences were observed across AI models in personalization (p = 0.0001) and consistency (p = 0.0002), with marginal significance in practicality (p = 0.0476). Nutritional component analysis revealed discrepancies between GPT-4’s internal estimations and manual values, with occasional deviations from clinical guidelines, especially for protein and phosphorus intake. Conclusion: While AI chatbots show promise in delivering dietary guidance for CKD patients, substantial variability exists across models in terms of personalization and clinical accuracy. Gemini demonstrated the strongest performance overall, but caution is warranted in clinical use, especially where nutrient estimation reliability and guideline adherence are critical. Further development and clinical validation are needed before AI-driven tools can be fully integrated into patient-centered CKD nutritional care.Item Restricted AN EVALUATION OF SKIN AND EYE CONDITIONS ASSOCIATED WITH SOLAR ULTRAVIOLET RADIATION EXPOSURE IN THE CENTRAL ASIAN COUNTRIES: A SYSTEMATIC REVIEW OF THE LITERATURE.(Nazarbayev University School of Medicine, 2024) Assylbek, NurkaliCentral Asian nations consist of Azerbaijan, Tajikistan, Kyrgyzstan, Kazakhstan, Uzbekistan, and Turkmenistan which are located from western China throughout Central Asia to the Caucasian mountains. Central Asia does not have open access to seas and oceans, which make the climate distinctively continental with predominant cloudless, hot, and dry weather conditions. In summer, the temperature usually rises to 50 °C [2,19]. UV Radiation reaching Earth's surface area in these locations is impacted by things including ozone layer thickness, solar geometry, cloud covers and atmospheric aerosols. UV light strength is expressed as watts per square centimeter (mW/cm2). In Figure 1, Central Asian nations are exhibited with Moderate-High UV indexes according to the global solar UV indexes because of their geographical location...Item Open Access Analysis of factors associated with profitability of Kazakhstani state hospitals and polyclinics.(Nazarbayev University School of Medicine, 2018-05) Shayakhmetov, YerassylThe following study analyzed factors affecting profitability of medical state enterprises. The primary interest of the study was the effect of corporate governance on financial performance of oblast level hospitals and primary care clinics. It was found that the presence of a supervisory board for the hospital or clinic is associated with decreased probability of producing net positive income (37% less chance) in these organizations. Also it was found that characteristics of supervisory boards like number of people in the board and meetings held by supervisory boards are not associated with profitability of state medical enterprises. The profitability of state medical organizations also differed between regions of the country and between organizations located in cities and rural regions.Item Restricted Analysis of GCIP Function in Rheumatoid Arthritis(Nazarbayev University School of Medicine, 2024-04-29) Nessipbekova, AssemThe global burden of rheumatoid arthritis (RA) is increasing for the ageing population. The disease is characterized by progressive joint inflammation and tissue destruction. One of the key players in the pathogenesis of RA is synovial fibroblasts (SF), which invade and destroy the cartilage in the joints. However, the exact molecular mechanism which explains their abnormal outgrowth is yet to be elucidated. Grap2 cyclin D interacting protein (GCIP), a protein related to Id proteins, plays a role in cell cycle progression and gene expression by blocking interactions between (CREB) binding protein (CBP) and RNA polymerase II complexes. A recent study has shown that Grap2 cyclin D interacting protein (GCIP) has been downregulated in the synovial fibroblasts in rheumatoid arthritis patients, suggesting its involvement in disease progression. The knockdown of the GCIP protein resulted in the increased growth of synovial fibroblasts, consequently leading to the upregulation of Cyclin D1, a crucial cell cycle and cell proliferation player regulated by the CREB. This thesis aimed to explore the role of GCIP in the pathogenesis of rheumatoid arthritis by establishing a mouse model of rheumatoid arthritis and testing how GCIP knockout affects the proliferation of synovial fibroblast during RA. Two cohorts of WT and GCIP KO C57BL/6 mice were utilized to induce RA with 2 different protocols. The protocol 2 resulted in a more pronounced disease phenotype in males. Female mice from both showed no visible signs of RA. The role of GCIP on the proliferation of the synovial fibroblasts was not established necessitating a larger cohort size and choosing male mice as a subject.Item Embargo ANALYSIS OF GCIP FUNCTION IN RHEUMATOID ARTHRITIS(Nazarbayev University School of Medicine, 2024) Sabyrbekova, AzizaRheumatoid arthritis is a condition that affects people globally, with a prevalence that varies between 0.1% to 2%, and unfortunately, current treatments are ineffective for about 30% of patients. To find new targets for treatment, the causes of RA have to be further examined. The primary objective of this research study is to examine the role of Grap2 cyclin-D interacting protein (GCIP) in the development of RA. According to recent studies, GCIP can inhibit cell proliferation, and downregulation of GCIP may contribute to fibroblast-like synoviocytes (FLS) overgrowth in RA patients. However, most research has been conducted only in vitro, and information about the mechanism of GCIP function in FLS is still limited. Based on the research findings of an in vivo mouse model, it was observed that the expression of GCIP is downregulated in mice induced with RA compared to untreated mice. Further research is needed to fully comprehend the role of GCIP in RA and its potential therapeutic implicationsItem Restricted ANALYSIS OF IMMUNIZATION COVERAGE AND INSIGHTS INTO VACCINE ACCEPTANCE IN PARENTS OF CHILDREN AFFECTED WITH CHRONIC DISEASES (FOCUS ON ONCOLOGICAL AND NEUROLOGICAL PATIENTS)(Nazarbayev University School of Medicine, 2024) Khalimzhanova, ShakhnozaObjectives: Although vaccination can be considered as one of the most successful public health interventions to prevent infectious diseases, there are many people who remain vaccine hesitant. Children affected with chronic diseases have increased risk of infectious disease complications compared to healthy children, therefore their vaccine coverage should be optimal. Our aim was to measure vaccination coverage among children with chronic diseases admitted to NRCMCH pediatric Neurology and Oncology departments. Also, we aimed to study parental beliefs and determinants of vaccine hesitancy among parents. Methods: This prospective cross-sectional paper-based study was conducted between April 2022 to July 2023. Results: Overall, 59 participants were recruited to participate in our study to answer the paper-based questionnaire about their demographic information, their child’s vaccine coverage and their attitude towards vaccination. All the participants were 100% were female participants and the highest percentage of parents (45.8%) were between the ages 30-39. We found out that vaccination coverage in two departments was similar with a mean score of 0.81 and 0.77 in Neurology and Oncology, respectively. However, parents in neurology department were more vaccine hesitant compared to parents in oncology department with a mean score of 2.9 and 3.35 in Neurology and Oncology respectively.Item Restricted ANALYSIS OF IMMUNIZATION COVERAGE AND INSIGHTS INTO VACCINE ACCEPTANCE IN PARENTS OF CHILDREN AFFECTED WITH CHRONIC DISEASES (FOCUS ON RHEUMATOLOGICAL AND NEPHROLOGICAL PATIENTS)(Nazarbayev University School of Medicine, 2024) Sardarbek, DanaIntroduction: Patients with chronic conditions are at increased risk of severe complications following infectious diseases due to their immunocompromised state. The rate of vaccine preventable diseases and its complications has declined significantly with high vaccine coverage among certain populations. Although children with chronic diseases have higher susceptibility for severe course of infection, vaccine hesitancy among their legal representatives is still high. Methods: This cross-sectional study was conducted from April 2022 to September 2023. The study analyses the data from a paper-based survey of 63 parents of chronically ill children. Results: 36 responses from nephrology department and 27 responses from rheumatology department were collected. Majority of the respondents were married female parents at the age between 30-39 and having university degree. Overall, the survey participants predominantly agree with the statements that claim the importance (61.1% and 74.1%), effectiveness (58.3% and 55.5%) and safety of the vaccination (41.7% and 59.3%) among both nephrology and rheumatology departments, respectively. Conclusion: Parents are concerned about safety of vaccines for children with chronic diseases who receive specialized therapy. The vaccine coverage is inadequate, with the higher immunization rate among rheumatological patients compared to nephrological patients. While parents of nephrological patients are more vaccine hesitant.Item Restricted ANALYSIS OF PERIPHERAL BLOOD AND MUCOSAL EOSINOPHILS IN CHILDREN WITH CHRONIC INFLAMMATORY BOWEL DISEASES(Nazarbayev University School of Medicine, 2024) Ayazbekova, AkbotaInflammatory bowel diseases (IBDs) comprises Crohn’s disease (CD) and Ulcerative colitis (UC), both of which pathogenesis is still under research. There were several studies investigating the role of eosinophil cell activity in the peripheral blood as well as gastrointestinal mucosa in adults, but there has been limited study in the pediatric population. This study aims to assess eosinophil activity in peripheral blood and mucosa, and also assess the correlation in clinical and pathological aspects. The study recruits 96 patients diagnosed with IBDs during the period from January 1, 2018 till December 31, 2022. Patients' eosinophil counts were compared at the first presentation. From selected patients 27 were diagnosed with CD and 69 were diagnosed with UC. Patient’s mean age was 12.4 and 13.1 years, with male to female ratio of 1.25 and 1.3, respectively. Patients groups divided by PBE median to ‘low’ and ‘high’ group, showed statistical difference in mucosal eosinophils (p-value < 0.05). However, groups divided by clinical and inflammatory parameters did not show statistically significant differences (p-value > 0.05). Overall, the study concludes that there is a correlation between eosinophil count in peripheral blood and colonic mucosa in IBDs diagnosed pediatric patients.Item Open Access Antibiotic/antimicrobial resistance patterns of bacterial pathogens isolates from national research center for mother and child health in Astana, Kazakhstan(Nazarbayev University School of Medicine, 2018-05) Iskhakova, DinaraThe rapid emergence of drug resistant bacteria is occurring worldwide, endangering the efficacy of antibiotics, which have transformed medicine and saved millions of lives (1-6). Many decades after the first patients were treated with antibiotics, bacterial infections have again become a threat (7). The antibiotic resistance crisis has been attributed to the overuse and misuse of these medications, as well as a lack of new drug development by the pharmaceutical industry due to reduced economic incentives and challenging regulatory requirements.Item Embargo ANTICANCER EFFECTS OF AK4 IN MACROPHAGES AND T-LYMPHOCYTES(Nazarbayev University School of Medicine, 2025-04-25) Tastanbekova, VeneraDespite multiple therapies, including chemotherapy and immunotherapy, cancer-related mortality is still extremely high. Resistance to treatment and relapse are the two most common reasons (Yang et al., 2022). Immunotherapy is a promising method in cancer therapy. There are new forms of immunotherapy, such as CAR-T cell therapy, have use patient cells, taken, isolated, and genetically modified. The genetic modification allows T-cells to identify cancer cells and destroy them in the body (Niu et al., 2024). The new forms of immunotherapy have a proven track record in the treatment of cancer disease, most notably hematological malignancies. For example, in leukemias and B-cell lymphomas, CAR-T cell therapy has demonstrated a tremendous response (Maude et al., 2018). However, the application of this method of therapy is fraught with challenges against solid tumors due to their heterogeneity and immunosuppressive properties within the tumor microenvironment (Wang et al., 2023). The macrophage is an immune cell, and its main function is to eliminate an organism's defenses against a variety of infections by acting via phagocytosis (Chin et al., 2021). Macrophages are polarized into two categories, M1 are pro-inflammatory and activated by interferon-gamma, which stimulate the release of cytokines and inflammation (Wujak et al., 2021), M2 is an anti-inflammatory macrophage activated by IL-2, and restores tissue as a major function. Multiple studies have examined tumor-associated macrophages (TAM), the greatest population of macrophages represents our cancer microenvironment, and contributes in two ways to tumor progression and metastasis by secreting growth factors (VEGR, EGF, etc.) and secreting immunosuppression cytokines - TGF-B (Wang & Joyce, 2010). Also, tumor-associated macrophages will express the ligand as the receptor to bind with the PD-1 receptor (programmed cell death receptor) as a means to induce T-cell exhaustion. The overexpression of AK4 affects the functional activity of macrophages, especially the M1 pro-inflammatory activity. The data supports that AK4 increased more in the M1 type compared to the M2 type of macrophage. Thus, overexpression of AK4 is related to an inflammatory response (Chin et al., 2021). Therefore, in this regard, we view AK4 not only as a regulator of metabolism and inflammation, but also potential therapeutic target for developing better CAR-M therapies for the immunotherapy of solid tumors.Item Restricted ARTIFICIAL INTELLIGENCE-BASED CIRCUIT TRAINING’S EFFECT ON FUNCTIONAL AND PHYSIOLOGIC PARAMETERS OF PATIENTS WITH TYPE 2 DIABETES MELLITUS(Nazarbayev University School of Medicine, 2024) Tukayev, MerekeThe study evaluates the effectiveness of using full circular exercises using artificial intelligence to improve health in people over the age of 18 with diagnosed type 2 diabetes. For 8 weeks, the participants participate in full circuit training program that include artificial intelligence that used to individualize the training program, taking into account the characteristics of each participant, and exercises specially adapted to their health and physical fitness. The technique included measuring anthropometric, functional and physiological parameters with surface electromyography as indicators before and after the training program. We hypothesize that results will lead to significant improvement in the participants' physical condition. We anticipate that full circular exercises adapted to the control of artificial intelligence represent a promising method for managing the second type of diabetes in adults. This study highlights the importance of an individualized approach to physical activity for people with diabetes and shows the potential of artificial intelligence in the field of healthcare. Further research is required to confirm these results in a wider sample and to assess the long-term effects of such training programs.Item Restricted Assessing the role of EBV in modulation of gene expression profile of H4 neuroglioma and U118 glioblastoma cell lines consistent with Alzheimer's disease(Nazarbayev University School of Medicine, 2024-04-26) Omarova, ZhannurEpstein-Barr virus (EBV), a ubiquitous double-stranded DNA virus, also known as human herpesvirus 4, is implicated in a variety of neurological disorders. It is recognized as a major risk factor for multiple sclerosis. Recent studies have revealed a potential role for EBV infection in the pathogenesis of Alzheimer's disease (AD). EBV is known to influence host gene expression through its proteins and non-coding RNAs, including latent genes such as EBNA1 and LMP, as well as lytic genes such as BZLF1. Extensive research has examined the influence of EBV on cellular gene expression during tumorigenesis, however, little research has been conducted to understand how EBV influences gene expression associated with AD. This study aimed to explore the association between EBV and AD by testing the hypothesis that EBV elements, such as EBNA-1, cause changes in host gene expression consistent with the AD gene expression profile in the nervous tissue. To test this hypothesis, bioinformatics analysis of three GEO AD brain cell type-specific gene expression datasets was performed and the expression changes of the three identified genes – EBF1, EGR1, and GFAP – were examined in EBV-infected and uninfected H4 neuroglioma and U118 glioblastoma cell lines. EBV infection was carried out using cell-free viral supernatant. Changes in gene expression were assessed using qPCR. This study is the first to explore experimental methods for EBV infection of H4 and U118 cells. Although latent EBV infection was not detected in infected cells using primers for EBNA1, EBER1, and EBER2, the levels of EBF1, EGR1, and GFAP in infected cells changed at different days post-infection compared with control cells. Similar to AD brain cell types, EBF1 and GFAP were increased in infected U118 cells compared to uninfected cells. An increase in EGR1 was first observed in both cell lines after infection, followed by a downward trend, consistent with the results of the bioinformatics analysis. Further analysis is needed to assess whether these changes were specifically related to EBV infection. In conclusion, the thesis work highlights the need and importance of more research on the link between EBV infection and AD, as certain cellular changes after EBV infection were similar with brain cell types affected by AD.Item Restricted ASSESSING THE ROLE OF EBV PROTEINS IN AMYLOID-BETA AGGREGATION ASSOCIATED WITH INDUCTION OF ALZHEIMER'S DISEASE(Nazarbayev University School of Medicine, 2024-04-26) Berikkara, AsselBackground: Alzheimer’s disease represents the most prevalent form of neurocognitive decline. The key distinguishing pathological markers within the central nervous system involve the aggregation of senile plaques resulting from a two-step cleavage of the amyloid precursor protein by beta- and gamma-secretase enzymes sequentially. Previous studies have demonstrated a positive correlation between individuals who have mononucleosis due to EBV infection and their increased vulnerability to Alzheimer's disease. Hence, a new outlook on the disease etiology known as the "infectious hypothesis" has directed attention toward the Epstein-Barr virus (EBV), a double-stranded DNA virus, in terms of its potential contribution to plaque formation and inflammation associated with Alzheimer's disease. Methods: H4 neuroglioma and U118 glioblastoma cell lines were directly infected with EBV containing supernatant. The expression of APP and Tau mRNA was detected by qPCR. Protein levels were measured using ELISA with anti-APP antibodies, both before and after viral infection. Virus-free H4 and U118 cell lines were used as controls for comparative statistical analysis of mRNA and protein levels of the APP gene. Results: Infected U118 cell growth was maintained for more than 20 days, while H4 cells died out after the 7th day post-infection. qPCR results showed a consistent decrease in wild-type APP, APP-KPI, and APP-770 mRNA levels throughout the infection period, while Tau protein exhibited a statistically significant decrease in its expression level. In H4 cells, there was a decrease in WT APP and APP-KPI, while tau protein showed an enhanced mRNA level compared to the control. Conclusion: Direct EBV infection of glial cells resulted in alterations in the expression of Alzheimer's disease hallmark genes (WT APP, APP-770, APP-751, and Tau) in both H4 and U118 cell lines in a time-dependent manner.Item Restricted Association between tap water quality and self-reported gastrointestinal and kidney diseases among residents of Astana(Nazarbayev University School of Medicine, 2019) Yessimkulova, FarizaAccess and supply of safe water are vital for human well-being. Previous studies show that the quality of drinking water may affect human health outcomes. This study is aimed to examine perception regarding tap water quality among Astana city residents and its association with gastrointestinal (GI) tract and kidneys associated diseases. A self-reported questionnaire was used for data collection. The survey was distributed via social media groups and hard copies were given in hands. In total, 371 responses were included in the analysis....Item Restricted Association of a body mass index with an in vitro fertilization outcomes(Nazarbayev University School of Medicine, 2019) Rakhimova, MakhabbatThere is evidence about the association between body mass index (BMI) and reproductive system disorders; however the impact of BMI on in vitro fertilization (IVF) treatment outcomes is still controversial in the literature. Therefore, the aim of our study was to investigate the influence of the full spectrum of body mass index (BMI) on IVF treatment and pregnancy outcomes...Item Restricted Association of climate and weather components with incidence of gastric cancer(Nazarbayev University School of Medicine, 2019) Aubakirova, MinaToday, climate change and cancer are concurrent epidemics, and while each is under scrutiny in its own field, little research concentrates on the interaction of the two. Among other oncological diseases, stomach cancer is the second most common in males and fourth most common in females in Kazakhstan. The country itself takes the twelfth place in the world for age-standardized gastric cancer incidence rates. Therefore, the purpose of the current study is to examine the association of climate and annual weather with incidence of stomach cancer. Hospital admissions for 2014-2017 were obtained from the Ministry of Health of Kazakhstan, whereas climate and weather data were extracted from publicly available online sources. Kruskal-Wallis test, Pearson’s correlation tests, and multiple linear regression with generalized estimating equation were performed in STATA-12. The analyses were done on town levels. Thus, all 87 towns of Kazakhstan were assessed in climate analysis, and 40 towns were analyzed in terms of annual weather....Item Restricted Association of nutrition related knowledge and self-efficacy with unhealthy eating behavior among university students of Astana city(Nazarbayev University School of Medicine, 2019) Ainabekova, AsselPoor diet is associated with risk for obesity, cardiovascular diseases and other noncommunicable diseases, which nowadays are the main causes of death worldwide. The aim of this study was to examine the association of unhealthy-eating behavior with nutrition-knowledge and self-efficacy to resist unhealthy eating among university students. The additional objective of our study was to determine the stages of change towards healthier eating behavior and to identify factors associated with each of the stages.Item Restricted Association of Phase II Drug Metabolizing Enzyme and Hormonal Balance Single Nucleotide Polymorphisms (SNPs) with Autism: A Case Control Study(Nazarbayev University School of Medicine, 2019) Izimov, AidarkhanAutism is a neurodevelopmental, chronic disease that is classified under Autism Spectrum Disorder (ASD) group. Considering high prevalence of 14.6 per 1000 children, all of these symptoms and conditions place both physical, emotional and economic burden on patients with autism and their relatives. One of the genetic determinants that affects ASD development is increased oxidative stress as a result of improper phase II drug metabolism enzyme function. Additionally, considering the higher prevalence of autism in males than females with a ratio of 3:1, it is important to understand genetic factors and pathways that play role in the sex difference. Therefore, the aim of this study was to analyze the association between phase II drug metabolism-related and hormonal balance related SNPs with autism. Based on the case control data among 1737 participants from Melbourne, Australia, among 6 statistically significant SNPs based on simple logistic regression, only 3 phase II metabolism related SNPs were statistically significant in final, age and gender adjusted model – GSTP1, QR1 and HO-1. None of the hormonal balance related SNPs were statistically significant at the final model. Considering high power of this study, based on the finding several possible implications can be applied in the future, including early diagnosis and the diet based on genetic profiling.