Study of the association between DRD2 Gene Ser311Cys and GSTM1 Gene Polymorphism in Schizophrenia

Introduction: Schizophrenia is a mental disorder affecting 1% of the world's population. Two of genes have been recognized to be involved in development of this disease: DRD2 and GSTM1. Methods: This case-control study included 100 patients suffering from schizophrenia who referred to Yazd Neuropsychiatry Hospital. Also, 100 healthy patients without schizophrenia were selected as the control group. After DNA extraction, it was genotyped 100 schizophrenic and 100 healthy controls by use of restricted fragment of length polymorphism (RFLP) for Ser311Cys polymorphism and multiplex PCR for GSTM1. After performing relevant experiments and gaining some results, statistical analysis was performed using SPSS software16. In this study, Chi-square and logistic regression tests were used to investigate the relation between genotype of polymorphism and schizophrenia. Results: Data analysis showed that frequency distribution of Ser311Cys polymorphism genotypes between the patients and healthy participants was not significant (P: 0.121). Also, for GSTM1, there was no association between the polymorphism and schizophrenia. In general, the frequency distribution of the deleting gene between the patients and the control group was not significant (P= 0.089). And this polymorphism was significantly associated with symptoms (P = 0.012). Conclusion: The results of this study show that Ser311Cys polymorphism and GSTM1 polymorphism is not common among the studied patients, therefore it indicates its non-effectiveness in the study population. However, because the study population is not representative of the entire Iranian population, further studies with larger population are needed.

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Analisis Faktor Fetus dan Tali Pusat terhadap Risiko Asphyxia Perinatal di Surakarta

Jurnal Ilmu Keperawatan Anak ◽

10.32584/jika.v3i1.521 ◽

2020 ◽

Vol 3 (1) ◽

pp. 16

Author(s):

Siti Lestari ◽

Dyah Dwi Astuti ◽

Fachriza Malika Ramadhani

Keyword(s):

Risk Factors ◽

Case Control Study ◽

Perinatal Asphyxia ◽

Case Control ◽

Control Group ◽

Case Group ◽

Retrospective Case ◽

Chi Square ◽

Fetal Position ◽

Control Study

Asfiksia perinatal merujuk pada kekurangan oksigen selama persalinan, sehingga berpotensi menyebabkan kematian dan kecacatan. WHO memperkirakan 4 juta anak terlahir dengan asfiksia setiap tahun, dimana 1 juta di antaranya meninggal dan 1 juta anak bertahan hidup dengan gejala sisa neurologis yang parah. Penelitian ini bertujuan untuk menganalisis faktor risiko fetal dan tali pusat pada asfiksia neonatal.Penelitian dilakukan di lakukan di RS Dr Moewardi Surakarta dengan pendekatan quantitative retrospective case control study. Data diambil dari rekam medis antara tahun 2013-2018. Penelitan ini melibatkan 264 neonatal yang terdiri dari 88 kelompok kasus dan 176 kelompok control. Kelompok kasus adalah bayi dengan diagnosa asfiksia yang dilakukan analisis terhadap faktor risiko fetal, sedangkan bayi yang tidak mengalami asfiksia dijadikan kelompok kontrol. Hasil analisis statistik uji Chi-Square dan Fisher Exact ditemukan bahwa kelahiran prematur (OR 2,07 CI 95% P 0,02), persalinan dengan tindakan (OR 3,61 CI 95% P 0,00), berat bayi (OR 2,85 CI 95% P 0,00), posisi janin (OR 2,37 CI 95% P 0,05), tali pusat ( QR 3,071 CI 95% P 0,01) berisiko terhadap insiden asfiksia perinatal. Air ketuban yang bercampur meconium (OR 1,51 CI 95% P 0,16) tidak memiliki risiko dengan Asfiksia perinatal. Kesimpulan: Risiko terhadap insiden asfiksia perinatal meliputi kelahiran prematur, persalinan dengan tindakan, berat bayi, posisi janin, dan tali pusat.Perinatal asphyxia refers to a lack of oxygen during labor, which has the potential to cause death and disability. WHO estimates 4 million children born with asphyxia each year, in which 1 million dies and 1 million survive with severe neurological sequelae. This study aims to analyze fetal and umbilical risk factors in neonatal asphyxia.This research is a quantitative retrospective case-control study, which was conducted at The Dr. Moewardi hospital, Surakarta. Data was taken from medical records from 2013-2018. The case group was patients diagnosed asphyxia, while those who did not experience asphyxia were treated as a control group. A total of 264 samples, consisting of 88 case group respondents and 176 control group respondents. Statistical analysis Chi- Square and Fisher Exact found that preterm birth (OR 2.07 CI 95% P 0.02), labor with instrument or complication (OR 3.61 CI 95% P 0.00), infant weight (OR 2.85 CI 95% P 0, 00), fetal position (OR 2.37 CI 95% P 0.05), umbilical cord (QR 3.071 CI 95% P 0.01) are at risk for the incidence of perinatal Asphyxia. The amniotic fluid mixed with meconium (OR 1.51 CI 95% P 0.16) has no risk with perinatal asphyxia.The risk factors of incidences of perinatal asphyxia were preterm birth, labor with instrument or complication, baby weight, fetal position and umbilical cord.

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Prevalence of Cardiac Arrhythmias in Hypothyroid and Euthyroid Patients

Hormone and Metabolic Research ◽

10.1055/s-0043-105275 ◽

2017 ◽

Vol 49 (06) ◽

pp. 430-433 ◽

Cited By ~ 3

Author(s):

Lakshmi Kannan ◽

Justyna Kotus-Bart ◽

Aman Amanullah

Keyword(s):

Cardiac Arrhythmias ◽

Ventricular Arrhythmias ◽

Large Scale ◽

Case Control Study ◽

Medical Center ◽

Case Control ◽

Control Group ◽

Chi Square ◽

Chi Square Analysis ◽

Control Study

AbstractThe thyroid functions as a regulator of cardiac function and rhythm through genomic and nongenomic actions of triiodothyronine (T3) in cardiac myocytes. Atrial fibrillation is a common complication of thyrotoxicosis. Hypothyroidism is not considered a risk factor for arrhythmias despite well-known EKG changes in this condition. This case control study was conducted to analyze the differences, if any, in the prevalence of cardiac arrhythmias between hypothyroid patients and euthyroid controls. Three hundred and four consecutive patients admitted at our medical center for a period of one year were included in the study. The study population was divided into 2 groups (age, gender and race matched): patients with hypothyroidism and euthyroid subjects as a control group. Major arrhythmia data were obtained from telemetry recordings and from known past medical history. There were 152 subjects in each arm of the study. The mean age was 61.9 years. Mean TSH in hypothyroid group was 40.4 mIU/l (95% CI 33.3–47.5) (range 10.09–304, SE 3.62) and in euthyroid group was 0.89 mIU/l (95% CI 0.82–0.96). Chi-square analysis revealed a higher prevalence of ventricular tachycardia (p=0.04) and any ventricular arrhythmia in the hypothyroid group (p=0.007). This relatively large case control study revealed a statistically higher prevalence of ventricular arrhythmias in hypothyroidism. Our study has thrown light on the prevalence of arrhythmias in hypothyroidism and the observation of increased ventricular arrhythmias necessitates future large scale prospective studies to better define the risk of such ventricular arrhythmias and the effects of thyroid supplementation on this risk.

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Polymorphisms in Phase I (CYP450) Genes CYP1A1 (rs4646421), CYP1B1 (rs1056836), CYP19A1 (rs749292) and CYP2C8 (rs1058930) and Their Relation to Risk of Breast Cancer: A Case-Control Study in Mazandaran Province in North of Iran

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2019.667 ◽

2019 ◽

Vol 7 (15) ◽

pp. 2488-2496 ◽

Cited By ~ 2

Author(s):

Golpar Golmohammadzadeh ◽

Abbas Mohammadpour ◽

Nematollah Ahangar ◽

Mohammad Shokrzadeh

Keyword(s):

Breast Cancer ◽

Case Control Study ◽

Control Group ◽

Fisher Exact Test ◽

Mazandaran Province ◽

Chi Square ◽

Exact Test ◽

Cyp1b1 Gene ◽

Increased Risk ◽

Control Study

BACKGROUND: The second leading cause of cancer-related death in women is breast cancer. Xenobiotic Metabolizing Enzymes (XMEs) contribute to the detoxification of numerous cancer therapy-induced products. In the metabolism of xenobiotic, cytochrome P450s or monooxygenases perform an important function by catalysing the hydroxylation reaction. In this study, the susceptibility and genetic polymorphisms of CYP450 isoenzymes was investigated that may have an etiological role in breast cancer. AIM: The main purpose of this study was to evaluate the association of CYP1A1 (rs4646421), CYP1B1 (rs1056836), CYP2C8 (rs1058930), and CYP19A1 (rs749292) polymorphisms with the risk of breast cancer in Mazandaran province. MATERIAL AND METHODS: This cross-sectional case-control study were recruited 72 patients and 51 healthy individuals and was performed between March 2018 to May 2018 in the Oncology Department at Imam Hospital in Sari city, Iran. Peripheral blood samples were collected in EDTA tube, and DNA extraction was performed using the salting-out method and WizPrep extraction kits. Breast cancer patients with known clinicopathological characters and healthy women as control group were genotyped for genes polymorphisms by PCR-RFLP technique, using restriction enzymes. Chi-square, Fisher exact test and Logistic regression model, were applied for statistical analysis. RESULTS: The results of the experiments showed that there was a significant relationship between two groups and the age of the patients is significantly higher than the control group (p = 0.044). According to the chi-square and Fisher exact test, education, pregnancy, menopause status and oppose were significant between the two groups. Based on using a logistic regression model in two normalized and age-adjusted models to finding relationship between the genotypes of each gene and breast cancer risk, it was determined that in the CYP2C8 genotype, those who have the CG allele have a 7.74 degree increased risk of breast cancer (CI = 95% 0.95-62.5) and in the CYP19A1 gene, individuals with GA genotype, increased risk of breast cancer (CI = %95 1.52-27.21), about the CYP1B1 gene, people with two genotypes of CG + GG had higher risk of breast cancer (CI = %95 1.19-5.71) and allele G has decreased risk of breast cancer in this gene (P = 0.0271), also allele G in CYP2C8 gene had the protective effect (P = 0.02). In the age-adjusted model, for the CYP2C8 gene, GG genotype increased risk of breast cancer (CI = %95 1.11-75.84) as well as, the CG + GG genotype in CYP1B1 gene (CI = %95 1.31-6.57). CONCLUSION: Our results confirm the association between CYP2C8 (rs1058930), CYP19A1 (rs749292) and CYP1B1 (rs1056836) gene polymorphisms and increased risk of breast cancer in women in Mazandaran province.

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Pubic Hair Shaving Is Correlated to Vulvar Dysplasia and Inflammation: A Case-Control Study

Infectious Diseases in Obstetrics and Gynecology ◽

10.1155/2017/9350307 ◽

2017 ◽

Vol 2017 ◽

pp. 1-5 ◽

Cited By ~ 2

Author(s):

Meike Schild-Suhren ◽

Amr A. Soliman ◽

Eduard Malik

Keyword(s):

Case Control Study ◽

Medical Personnel ◽

Hpv Infection ◽

Pubic Hair ◽

Control Group ◽

Papilloma Virus ◽

Cancer Group ◽

Hpv Status ◽

Healthy Participants ◽

Control Study

Objective. The risk factors for vulvar dysplasia and infections are not fully known. In this study, we aimed to investigate the correlation between pubic hair shaving and the occurrence of vulvar inflammation, dysplasia, and cancer. Methods. This study was performed between January 2013 and December 2016 in which a standardized questionnaire concerning genital hair shaving was administered to vulvar dysplasia and cancer patients and healthy participants. The presence of human papilloma virus (HPV) infection and the occurrence of genital inflammation were documented. Results. We recruited 49 patients with vulvar dysplasia or cancer and 234 healthy women as a control group. Smoking, HPV infection, genital inflammation, and complete pubic hair removal were significantly more common in the vulvar dysplasia/cancer group. Pubic hair shaving per se presented a clear association with vulvar dysplasia/cancer. Shaving the labia majora in particular showed also an association. Conclusion. Our findings suggest that partial or complete pubic hair shaving using a razor is correlated with and could be a potential risk factor for the development of genital inflammation, vulvar dysplasia, and malignancies. These results need to be confirmed in larger studies. HPV status and genital inflammation should be documented by medical personnel.

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RETN rs3745368 polymorphism and resistin level in Javanese ethnic Indonesian obese: a case control study

Jurnal Teknologi Laboratorium ◽

10.29238/teknolabjournal.v8i1.164 ◽

2019 ◽

Vol 8 (1) ◽

pp. 41-49

Author(s):

Rizki Fajar Utami ◽

Pramudji Hastuti ◽

Ahmad Hamim Sadewa

Keyword(s):

Allele Frequency ◽

Frequency Distribution ◽

Case Control Study ◽

Control Group ◽

Allele Frequency Distribution ◽

Resistin Level ◽

Obesity Status ◽

Significant Difference ◽

And Control ◽

Control Study

Obesity has become a global public health problem. It occurs due to a positive energy balance leading to adipose tissue expansion. White adipose tissue was an endocrine organ which secreted resistin. Resistin also produced by immune cells due to low chronic level inflammation might cause higher resistin level in obese people. Polymorphism +62G>A RETN gene was reported has a relationship with low resistin level and A allele as a protective allele. This study aimed to determine genotype and allele frequency distribution concerning resistin level. Another objective aimed to know the correlation between resistin level with body mass index. The design of the research was a case-control study with 122 people (18-40 y.o.), divided equally in the case group (BMI ≥ 27 kg/m2) and control group (BMI 18.5-24.9 kg/m2) without diabetes mellitus. Blood was taken after fasting a minimal 8 hours. Plasma was used to measure the resistin level. DNA genotyping was analyzed using PCR-RFLP. Genotyping result showed three genotypes of RETN gene +62G>A polymorphism (GG, GA, AA). There was no significant difference in genotype and allele frequency distribution related to obesity status (p=0.680; p=1) and resistin level (p=0.537) between case and control group. There was no significant difference in resistin level between case and control group (p=0.770). Resistin level was correlated with BMI in obese group (p= 0.05; r= -0.25). The present study concludes that there is no significant difference in genotype and allele frequency distribution related to obesity status and resistin level. Resistin level has a negative correlation with BMI.

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Association of Interleukin-6-174 G/C Gene Promotor Polymorphism with Rheumatoid Arthritis in Adolescence Age Group: A Case-control Study

JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH ◽

10.7860/jcdr/2021/46429.14990 ◽

2021 ◽

Author(s):

Sergei Egorovich Khalchitsky ◽

Marina Vanikovna Sogoyan ◽

Alexei Nicolaevich Kozhevnikov ◽

Sergei Valentinovich Vissarionov ◽

Alexei Georgievich Baindurashvili

Keyword(s):

Rheumatoid Arthritis ◽

Real Time ◽

Case Control Study ◽

Case Control ◽

European Population ◽

Control Group ◽

Healthy Children ◽

Chi Square ◽

Chi Square Test ◽

Control Study

Introduction: Rheumatoid Arthritis (RA) is a chronic autoimmune disease with unknown pathogenesis. The disease is multifactorial, however, the exact causes of the occurrence, as well as the targets of the autoimmune process, are unknown. Genes candidate for a predisposition to RA are cytokine genes. Of the cytokines, IL-6 is considered a key mediator of systemic and localized inflammation in RA. Aim: The comparative analysis of the frequency distribution of alleles and genotypes IL-6 -174G/C polymorphism in patients with RA and in the control group to determine the genotype most characteristic of this disease. Materials and Methods: This case-control study was conducted in a group of 136 children with RA aged 14 to 18 years. In the control group, there were 143 practically healthy children of similar age without RA and orthopedic pathology. Both groups were tested for polymorphism IL-6 -174G/C using real-time Polymerase Chain Reaction (real-time PCR). The results were statistically processed using the Pearson's Chi-square test. Results: The distribution of -174G/C genotypes in the IL-6 gene is significantly different in patients with RA when compared with the control group. In patients with RA, heterozygous carriers of -174G/C (52.94%) prevail, while in the control group the most numerous group are homozygous carriers of -174G/G (40.56%). Conclusion: As a result of this study, it was possible to identify significant differences in the distribution of the genotypes -174 G/C polymorphism in the IL-6 gene between patients with RA and subjects of the control group. In relation to the European population of the Russian Federation, this polymorphism can serve as a diagnostic marker in the study of the pathogenesis of RA.

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Anatomical Evaluation of Mandibular Bone Cortex in Patients with Mucopolysaccharidosis: A Case-Control Study

Journal of Advances in Medicine and Medical Research ◽

10.9734/jammr/2021/v33i2131129 ◽

2021 ◽

pp. 15-22

Author(s):

Cledinaldo Lira Junior ◽

Diego Henrique Pires Gonçalves ◽

Kamilly de Lourdes Ramalho Frazão ◽

Sandra Aparecida Marinho ◽

Sérgio Henrique Gonçalves De Carvalho ◽

...

Keyword(s):

Case Control Study ◽

Panoramic Radiograph ◽

Case Control ◽

Control Group ◽

Chi Square ◽

Mandibular Bone ◽

Exact Test ◽

Significant Difference ◽

Chi Square Test ◽

Control Study

Aims: To evaluate the mandibular bone cortical of patients with mucopolysaccharidosis on panoramic radiograph, through radiomorfometric indices. Study Design: Case-control study. Place and Duration of Study: Sample: Department of Diagnostic Imaging of the Universidade Estadual da Paraíba, Campus VIII, in the city of Araruna, PB, between January and December of 2015. Methodology: Panoramic radiographs of sixteen patients with mucopolysaccharidosis and 32 controls, organized by gender and age, composed the sample. The mandibular panoramic index, gonial index, antegonial index and mental index were evaluated. Pearson's Chi-square test, Fisher's exact test and Mann-Whitney test were used to statistical analysis with a level of significance of 5.0%. Results: Mucopolysaccharidosis patients were mostly female (62.5%), with a mean age of 12.31 + 7.16 years, MPS VI (50.0%) being the most prevalent. Patients with mucopolysaccharidosis had higher values in the gonial (1.86+0.48), the antegonical (4.36+1.24) and the mental (5.24+1.21). However, only the antegoniac index presented a significant difference (P=0.047). Conclusion: The antegoniac index was higher in patients with mucopolysaccharidosis and the other radiomorphometric measures were similar to those observed in the control group. Apparently, mucopolysaccharidosis is not related to decreased bone to mandibular quality.

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Investigation of Two Wnt Signalling Pathway Single Nucleotide Polymorphisms in a Breast Cancer-Affected Australian Population

Twin Research and Human Genetics ◽

10.1375/twin.14.6.562 ◽

2011 ◽

Vol 14 (6) ◽

pp. 562-567 ◽

Cited By ~ 5

Author(s):

Plamena N. Gabrovska ◽

Robert A. Smith ◽

Larisa M. Haupt ◽

Lyn R. Griffiths

Keyword(s):

Breast Cancer ◽

Wnt Signaling ◽

Signaling Pathway ◽

Case Control Study ◽

Wnt Signaling Pathway ◽

Case Control ◽

Allele Frequencies ◽

Chi Square ◽

Study Population ◽

Control Study

In the mammary gland, Wnt signals are strongly implicated in initial development of the mammary rudiments and in the ductal branching and alveolar morphogenesis that occurs during pregnancy. Previously, we identified two Wnt signaling pathway-implicated genes, PPP3CA and MARK4, as having a role in more aggressive and potentially metastatic breast tumors. In this study, we examined two SNPs within PPP3CA and MARK4 in an Australian case-control study population for a potential role in human breast cancers. 182 cases and 180 controls were successfully genotyped for the PPP3CA SNP (rs2850328) and 182 cases and 177 controls were successfully genotyped for the MARK4 SNP (rs2395) using High Resolution Melt (HRM) analysis. Genotypes of randomly selected samples for both SNPs were validated by dye terminator sequencing. Chi-square tests were performed to determine any significant differences in the genotype and allele frequencies between the cases and controls. Chi-square analysis showed no statistically significant difference (ρ > .05) for genotype frequencies between cases and controls for rs2850328 (χ2 = 1.2, p = .5476) or rs2395 (χ2 = .3, p = .8608). Similarly, no statistical difference was observed for allele frequencies for rs2850328 (χ2 = .68, p = .4108) or rs2395 (χ2 = .02, p = .893). Even though an association of the polymorphisms rs2850328 and rs2395 and breast cancer was not detected in our case-control study population, other variants within the PPP3CA and MARK4 genes may still be associated with breast cancer, as both genes are implicated with processes involved in the disease as well as their mutual partaking in the Wnt signaling pathway.

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Association of Genetic Polymorphisms in TNFRSF11 with the Progression of Genetic Susceptibility to Gastric Cancer

Journal of Oncology ◽

10.1155/2020/4103264 ◽

2020 ◽

Vol 2020 ◽

pp. 1-9

Author(s):

Yu Fan ◽

Xuyu Gu ◽

Huiwen Pan ◽

Zhe Dai ◽

Chen Zou ◽

...

Keyword(s):

Gastric Cancer ◽

Frequency Distribution ◽

Tumor Size ◽

Case Control Study ◽

Case Control ◽

Control Group ◽

Case Group ◽

The Difference ◽

The Relationship ◽

Control Study

Objective. To investigate the relationship between polymorphism of TNFRSF11 gene rs9533156 and rs2277438 and susceptibility to gastric cancer. Methods. A case-control study was conducted to select 577 cases of primary gastric cancer and 678 cases of normal control. We extracted whole blood genomic DNA and amplified the target gene fragment by PCR. The genotyping and allele were tested through the snapshot method. Results. In this case-control study, we observed that there was a difference in the genotype distribution of TNFRSF11 gene rs9533156 between the case group and the control group. The frequency distribution of TC heterozygous mutation in the case group was higher than that in the control group. The smoking rate in the case group (34.49%) was higher than that in the control group (27.29%), and the difference in frequency distribution between the two groups was statistically significant (P=0.006). Our findings suggest that TNFRSF11 rs9533156 is associated with susceptibility to GC, which is more evident among elderly patients (>62 years), nonsmokers, and patients who do not consume alcohol. The analysis of the relationship between the TNFSF11 gene rs9533156 site variant and clinical factors of gastric cancer showed that, compared with the tumor size <2 cm group, patients with tumor size ≥2 cm and whom carrying rs9533156 site mutations had a higher frequency distribution, and the difference was statistically significant (P=0.022). Compared with the nonhyperglycemic group, the frequency distribution of patients with rs9533156 site mutations in the diabetes group was higher, and the difference was statistically significant (P<0.001). Conclusion. This study shows that there is a correlation between smoking and the occurrence of gastric cancer. Based on our research, the functional SNP TNFRSF11 TC genotype may be an indicator of individual susceptibility to GC. The mutation at rs9533156 may be related to the size of gastric cancer. The mutation rate of rs9533156 of TNFSF11 gene is higher in diabetic gastric cancer patients.

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PENGARUH FREKUENSI PIJAT BAYI TERHADAP KUALITAS TIDUR BAYI USIA 1-3 BULAN DI MOMBYKIDS JOMBANG

Jurnal Ilmiah Kebidanan (Scientific Journal of Midwifery) ◽

10.33023/jikeb.v5i2.328 ◽

2019 ◽

Vol 5 (2) ◽

pp. 21-26

Author(s):

Fera Yuli Setiyaningsih

Keyword(s):

Sleep Disturbances ◽

Case Control Study ◽

Sampling Technique ◽

Control Group ◽

Quality Of Sleep ◽

Infant Massage ◽

Chi Square ◽

Chi Square Analysis ◽

Control Study

Sleep well is a need that must be solved by the baby because at this time sleep brain development reaches its peak. 51.3% of babies experience sleep disturbances, 42% of babies sleep less than 9 hours a night, and at night they wake up more than 3 times with an increase of more than one hour. This study discusses baby massage on sleep quality 1-3 months in mombykids. Research method: Design of the study used Case control study was conducted in November with a sample of 30 infants divided into two groups, namely the control group consisting of 15 infants, the report group consisted of 15 infants. The sampling technique uses total sampling. Data analysis using Chi Square. The results of the study: the results of Chi Square analysis p = 0.027 <0.05 so that it can be concluded related to infant massage with the quality of sleep for infants aged 1-3 months.

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