• Title/Summary/Keyword: Gene Associations

Search Result 380, Processing Time 0.024 seconds

Association of Pre- and Perinatal Risk Factors With Tourette Syndrome or Chronic Tic Disorders in a Korean School-Age Population

  • Wooseok Choi;Soon-beom Hong;Johanna Inhynag Kim;Jung Lee;Soomin Jang;Yebin D Ahn;You Bin Lim;Sumin Kim;Mee Rim Oh;Bung-Nyun Kim
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
    • /
    • v.34 no.1
    • /
    • pp.37-44
    • /
    • 2023
  • Objectives: Tic disorders are highly heritable; however, growing evidence suggests that environmental factors play a significant role in their pathogenesis. Studies on these factors have been inconsistent, with conflicting results. Therefore, this study aimed to examine the associations of pre- and perinatal exposure to Tourette syndrome (TS) or chronic tic disorders (CTD) in Korean school-aged children. Methods: This case-control study used data from a large prospective cohort study. The primary outcome was TS/CTD diagnosis according to the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) criteria and Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean Version. Demographic, pre-, and perinatal information was obtained from the maternal questionnaires. Data between the TS/CTD and control groups were compared using the chi-squared or Student's t-test, as appropriate. Two-step logistic regression analyses were used to test the association between TS/CTD and pre- and perinatal risk factors. Results: We included of 223 children (78 with TS/CTD and 145 controls). Significant differences in the demographic data between the two groups were observed. The male sex ratio, mean parental age, parental final education level, and family history of tics were included as confounders. In the final adjusted multivariable model, TS/CTD was significantly associated with antiemetic exposure during pregnancy (odds ratio [OR]=16.61, 95% confidence interval [CI] 1.49-185.22, p=0.02) and medically assisted reproduction (OR=7.89, 95% CI 2.28-27.28, p=0.01). Conclusion: Antiemetic exposure and medically assisted reproduction are significantly associated with the risk of TS/CTD. These results should be replicated in future prospective and gene-by-environment studies.

Comparison of miR-106b, miR-191, and miR-30d expression dynamics in milk with regard to its composition in Holstein and Ayrshire cows

  • Marina V. Pozovnikova;Viktoria B. Leibova;Olga V. Tulinova;Elena A. Romanova;Artem P. Dysin;Natalia V. Dementieva;Anastasiia I. Azovtseva;Sergey E. Sedykh
    • Animal Bioscience
    • /
    • v.37 no.6
    • /
    • pp.965-981
    • /
    • 2024
  • Objective: Milk composition varies considerably and depends on paratypical, genetic, and epigenetic factors. MiRNAs belong to the class of small non-coding RNAs; they are one of the key tools of epigenetic control because of their ability to regulate gene expression at the post-transcriptional level. We compared the relative expression levels of miR-106b, miR-191, and miR-30d in milk to demonstrate the relationship between the content of these miRNAs with protein and fat components of milk in Holstein and Ayrshire cattle. Methods: Milk fat, protein, and casein contents were determined in the obtained samples, as well as the content of the main fatty acids (g/100 g milk), including: saturated acids, such as myristic (C14:0), palmitic (C16:0), and stearic (C18:0) acids; monounsaturated acids, including oleic (C18:1) acid; as well as long-, medium- and short-chain, polyunsaturated, and trans fatty acids. Real-time stem-loop one-tube reverse transcription polymerase chain reaction with TaqMan probes was used to measure the miRNA expression levels. Results: The miRNA expression levels in milk samples were found to be decreased in the first two months in Holstein breed, and in the first four months in Ayrshire breed. Correlation analysis did not reveal any dependence between changes in the expression level of miRNA and milk fat content, but showed a multidirectional relationship with individual milk fatty acids. Positive associations between the expression levels of miR-106b and miR-30d and protein and casein content were found in the Ayrshire breed. Receiver operating characteristic curve analysis showed that miR-106b and miR-30d expression levels can cause changes in fatty acid and protein composition of milk in Ayrshire cows, whereas miR-106b expression level determines the fatty acid composition in Holsteins. Conclusion: The data obtained in this study showed that miR-106b, miR-191, and miR-30d expression levels in milk samples have peculiarities associated with breed affiliation and the lactation period.

Interactions Between Genetic Risk Score and Healthy Plant Diet Index on Cardiometabolic Risk Factors Among Obese and Overweight Women

  • Fatemeh Gholami;Mahsa Samadi;Niloufar Rasaei;Mir Saeid Yekaninejad;Seyed Ali Keshavarz;Gholamali Javdan;Farideh Shiraseb;Niki Bahrampour;Khadijeh Mirzaei
    • Clinical Nutrition Research
    • /
    • v.12 no.3
    • /
    • pp.199-217
    • /
    • 2023
  • People with higher genetic predisposition to obesity are more susceptible to cardiovascular diseases (CVDs) and healthy plant-based foods may be associated with reduced risks of obesity and other metabolic markers. We investigated whether healthy plant-foods-rich dietary patterns might have inverse associations with cardiometabolic risk factors in participants at genetically elevated risk of obesity. For this cross-sectional study, 377 obese and overweight women were chosen from health centers in Tehran, Iran. We calculated a healthy plant-based diet index (h-PDI) in which healthy plant foods received positive scores, and unhealthy plant and animal foods received reversed scores. A genetic risk score (GRS) was developed based on 3 polymorphisms. The interaction between GRS and h-PDI on cardiometabolic traits was analyzed using a generalized linear model (GLM). We found significant interactions between GRS and h-PDI on body mass index (BMI) (p = 0.02), body fat mass (p = 0.04), and waist circumference (p = 0.056). There were significant gene-diet interactions for healthful plant-derived diets and BMI-GRS on high-sensitivity C-reactive protein (p = 0.03), aspartate aminotransferase (p = 0.04), alanine transaminase (p = 0.05), insulin (p = 0.04), and plasminogen activator inhibitor 1 (p = 0.002). Adherence to h-PDI was more strongly related to decreased levels of the aforementioned markers among participants in the second or top tertile of GRS than those with low GRS. These results highlight that following a plant-based dietary pattern considering genetics appears to be a protective factor against the risks of cardiometabolic abnormalities.

Comparison of PCR-RFLP and Real-Time PCR for Allelotyping of Single Nucleotide Polymorphisms of RRM1, a Lung Cancer Suppressor Gene (폐암 억제유전자 RRM1의 단일염기다형성 검사를 위한 PCR-RFLP법과 Real-Time PCR법의 유용성 비교)

  • Jeong, Ju-Yeon;Kim, Mi-Ran;Son, Jun-Gwang;Jung, Jong-Pil;Oh, In-Jae;Kim, Kyu-Sik;Kim, Young-Chul
    • Tuberculosis and Respiratory Diseases
    • /
    • v.62 no.5
    • /
    • pp.406-416
    • /
    • 2007
  • Background: Single nucleotide polymorphisms (SNPs), which consist of a substitution of a single nucleotide pair, are the most abundant form of genetic variations occurring with a frequency of approximately 1 per 1000 base pairs. SNPs by themselves do not cause disease but can predispose humans to disease, modify the extent or severity of the disease or influence the drug response and treatment efficacy. Single nucleotide polymorphisms (SNPs), particularly those within the regulatory regions of the genes often influence the expression levels and can modify the disease. Studies examining the associations between SNP and the disease outcome have provided valuable insight into the disease etiology and potential therapeutic intervention. Traditionally, the genotyping of SNPs has been carried out using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), which is a low throughput technique not amenable for use in large-scale SNP studies. Recently, TaqMan real-time PCR chemistry was adapted for use in allelic discrimination assays. This study validated the accuracy and utility of real-time PCR technology for SNPs genotyping Methods: The SNPs in promoter sequence (-37 and -524) of lung cancer suppressor gene, RRM1 (ribonucleotide reductase M1 subunit) with the genomic DNA samples of 89 subjects were genotyped using both real-time PCR and PCR-RFLP. Results: The discordance rates were 2.2% (2 mismatches) in -37 and 16.3% (15 mismatches) in -524. Auto-direct sequencing of all the mismatched samples(17 cases) were in accord with the genotypes read by real-time PCR. In addition, 138 genomic DNAs were genotyped using real-time PCR in a duplicate manner (two separated assays). Ninety-eight percent of the samples showed concordance between the two assays. Conclusion: Real-time PCR allelic discrimination assays are amenable to high-throughput genotyping and overcome many of the problematic features associated with PCR-RFLP.

Five Most Common Prognostically Important Fusion Oncogenes are Detected in the Majority of Pakistani Pediatric Acute Lymphoblastic Leukemia Patients and are Strongly Associated with Disease Biology and Treatment Outcome

  • Awan, Tashfeen;Iqbal, Zafar;Aleem, Aamer;Sabir, Noreen;Absar, Muhammad;Rasool, Mahmood;Tahir, Ammara H.;Basit, Sulman;Khalid, Ahmad Mukhtar;Sabar, Muhammad Farooq;Asad, Sultan;Ali, Agha Shabbir;Mahmood, Amer;Akram, Muhammad;Saeed, Tariq;Saleem, Arsalan;Mohsin, Danish;Shah, Ijaz Hussain;Khalid, Muhammad;Asif, Muhammad;Haq, Riazul;Iqbal, Mudassar;Akhtar, Tanveer
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.13 no.11
    • /
    • pp.5469-5475
    • /
    • 2012
  • Background and Objectives: Acute lymphoblastic leukemia (ALL) is a complex genetic disease involving many fusion oncogenes (FO) having prognostic significance. The frequency of various FO can vary in different ethnic groups, with important implications for prognosis, drug selection and treatment outcome. Method: We studied fusion oncogenes in 101 pediatric ALL patients using interphase FISH and RT-PCR, and their associations with clinical features and treatment outcome. Results: Five most common fusion genes i.e. BCR-ABL t (22; 9), TCF3-PBX1 (t 1; 19), ETV6-RUNX1 (t 12; 21), MLL-AF4 (t 4; 11) and SIL-TAL1 (del 1p32) were found in 89/101 (88.1%) patients. Frequency of BCR-ABL was 44.5% (45/101). BCR-ABL positive patients had a significantly lower survival ($43.7{\pm}4.24$ weeks) and higher white cell count as compared to others, except patients with MLL-AF4. The highest relapse-free survival was documented with ETV6-RUNX1 (14.2 months) followed closely by those cases in which no gene was detected (13.100). RFS with BCR-ABL, MLL-AF4, TCF3-PBX1 and SIL-TAL1 was less than 10 months (8.0, 3.6, 5.5 and 8.1 months, respectively). Conclusions: This is the first study from Pakistan correlating molecular markers with disease biology and treatment outcome in pediatric ALL. It revealed the highest reported frequency of BCR-ABL FO in pediatric ALL, associated with poor overall survival. Our data indicate an immediate need for incorporation of tyrosine kinase inhibitors in the treatment of BCR-ABL+ pediatric ALL in this population and the development of facilities for stem cell transplantation.

8q24 rs4242382 Polymorphism is a Risk Factor for Prostate Cancer among Multi-Ethnic Populations: Evidence from Clinical Detection in China and a Meta-analysis

  • Zhao, Cheng-Xiao;Liu, Ming;Xu, Yong;Yang, Kuo;Wei, Dong;Shi, Xiao-Hong;Yang, Fan;Zhang, Yao-Guang;Wang, Xin;Liang, Si-Ying;Zhao, Fan;Zhang, Yu-Rong;Wang, Na-Na;Chen, Xin;Sun, Liang;Zhu, Xiao-Quan;Yuan, Hui-Ping;Zhu, Ling;Yang, Yi-Ge;Tang, Lei;Jiao, Hai-Yan;Huo, Zheng-Hao;Wang, Jian-Ye;Yang, Ze
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.19
    • /
    • pp.8311-8317
    • /
    • 2014
  • Background: Evidence supporting an association between the 8q24 rs4242382-A polymorphism and prostate cancer (PCa) risk has been reported in North American and Europe populations, though data from Asian populations remain limited. We therefore investigated this association by clinical detection in China, and meta-analysis in Asian, Caucasian and African-American populations. Materials and Methods: Blood samples and clinical information were collected from ethnically Chinese men from Northern China with histologically-confirmed PCa (n=335) and from age-matched normal controls (n=347). The 8q24 (rs4242382) gene polymorphism was genotyped by polymerase chain reaction-high-resolution melting analysis. We initially analyzed the associations between the risk allele and PCa and clinical covariates. A meta-analysis was then performed using genotyping data from a total of 1,793 PCa cases and 1,864 controls from our study and previously published studies in American and European populations, to determine the association between PCa and risk genotype. Results: The incidence of the risk allele was higher in PCa cases than controls (0.222 vs 0.140, $P=7.3{\times}10^{-5}$), suggesting that the 8q24 rs4242382-A polymorphism was associated with PCa risk in Chinese men. The genotypes in subjects were in accordance with a dominant genetic model (ORadj=2.03, 95%CI: 1.42-2.91, $Padj=1.1{\times}10^{-4}$). Presence of the risk allele rs4242382-A at 8q24 was also associated with clinical covariates including age at diagnosis ${\geq}65$ years, prostate specific antigen >10 ng/ml, Gleason score <8, tumor stage and aggressive PCa, compared with the non-risk genotype ($P=4.6{\times}10^{-5}-3.0{\times}10^{-2}$). Meta-analysis confirmed the association between 8q24 rs4242382-A polymorphism and PCa risk (OR=1.62, 95%CI: 1.39-1.88, $P=1.0{\times}10^{-5}$) across Asian, Caucasian and African American populations. Conclusions: The replicated data suggest that the 8q24 rs4242382-A variation might be associated with increased PCa susceptibility in Asian, Caucasian and African American populations. These results imply that this polymorphism may be a useful risk biomarker for PCa in multi-ethnic populations.

Salt-Related Dietary Behaviors and Sodium Intakes of University Students in Gyeonggi-do (경기지역 대학생의 소금 관련 식행동 및 나트륨 섭취량)

  • Chung, Eun-Jung;Shim, Eu-Gene
    • Journal of the Korean Society of Food Science and Nutrition
    • /
    • v.37 no.5
    • /
    • pp.578-588
    • /
    • 2008
  • The objective of this study was to evaluate associations of dietary sodium (Na) intake with salt-related dietary behaviors of 218 university students (95 men; 123 women) living in Gyeonggi area. Dish frequency questionnaire (DFQ) was used to identify salt-related dietary behaviors and to determine Na intakes. In men, systolic & diastolic blood pressures, Na intakes and DFQ-15 scores were significantly higher than in women. High-salt intake group (HS), classified by DFQ-15, had higher scores of high-salt dietary attitude and more Na intakes than low-salt intake group (LS). HS took protein foods and had balanced diets less frequently than LS (p<0.05). HS had fried dishes & fatty meats, and added salt to dishes more frequently (p<0.05). HS and LS had differences in preference of soy-boiled and Chinese or Japanese foods, in intake frequency of bean-paste soup, in use of soy sauce with fried food or raw fish, and in salt addition to dishes at the table (p<0.05). HS, classified by Na intakes, had high-salt dietary attitudes such as preference of seasoned rice & soy-boiled foods and habitual addition of soy sauce or salt to dishes at the table. The subjects using food labels when purchasing had better salt-related attitudes & behaviors, and lower DFQ-15 scores & Na intakes than the non-users (p<0.01). Self-assessed HS (SHS) had worse salt-related attitudes and behaviors (p<0.05). Male self-assessed LS (SLS) had higher Na intakes, which indicated that self-assessment of salt preference did not actually reflect Na intake. In summary, male university students belonged to a high-risk group of salt intakes, and HS preferred soy-boiled foods or fatty dishes, frequently added salt to dishes and rarely had balanced diets. These results suggest that nutrition education programs for university students should include fundamental dietetics and a balanced diet, in addition to a low-Na diet.

MicroRNA 155 Expression Pattern and its Clinic-pathologic Implication in Human Lung Cancer (폐암에서 microRNA 155의 발현 양상과 임상병리학적 의의)

  • Kim, Mi Kyeong;Moon, Dong Chul;Hyun, Hye Jin;Kim, Jong-Sik;Choi, Tae Jin;Jung, Sang Bong
    • Journal of Life Science
    • /
    • v.26 no.9
    • /
    • pp.1056-1062
    • /
    • 2016
  • Lung cancer is currently the most common malignant disease and the leading cause of mortality in the world and non-small cell lung cancer (NSCLC) accounts for 75-80% of lung cancer cases. miR-155 gene was found to be over expressed in several solid tumors, such as thyroid carcinoma, breast cancer, colon cancer, cervical cancer, pancreatic ductal adenocarcinoma (PDAC) and lung cancer. The aims of this study were to define the expression of miR-155 in lung cancer and its associated clinic-pathologic characteristics. Total RNA was purified from formalin-fixed, paraffin-embedded NSCLC tissues and benign lung tissues. Expression of miR-155 in human lung cancer tissues were evaluated as mean fold changes of miR-155 in cancer tissues compared to benign lung tissues by quantitative real-time reverse transcriptase polymerase chain reaction (real-time qRT-PCR) and associations of miR-155 expression with clinic-pathologic findings of cancer. Compared with the benign control group, miR-155 expression was significantly overexpressed in NSCLCs (p=<0.001). miR-155 was more overexpressed in squamous cell carcinoma than in adenocarcinoma. Poorly differentiated tumors showed significantly overexpression of miR-155 than well-differentiated tumors (p=<0.001). Overexpression of miR-155 was significantly associated with lymph node metastasis (p=<0.05). In survival analysis for all NSCLC patients, high miR-155 expression was significantly correlated with worse overall survival (p=<0.05). These results suggested that miR-155 might play an important role in lung cancer progression and metastasis.

Installation Art In Indonesian Contemporary Art; A Quest For Medium and Social Spaces (인도네시아 현대미술에 있어서의 설치미술 - 미디엄과 사회적 공간을 위한 탐색)

  • Kusmara, A. Rikrik
    • The Journal of Art Theory & Practice
    • /
    • no.5
    • /
    • pp.217-229
    • /
    • 2007
  • Many historical research and facet about modern art in Indonesia which formulating background of contemporary Indonesian Art. Indonesian art critic Sanento Yuliman states that Modern art has been rapidly developing in Indonesia since the Indonesian Independence in 1945. Modern Art is a part of the super culture of the Indonesian metropolitan and is closely related to the contact between the Indonesian and Western Cultures. Its birth was part of the nationalism project, when the Indonesian people consists of various ethnics were determined to become a new nation, the Indonesian nation, and they wished for a new culture, and therefore, a new art. The period 1960s, which was the beginning of the creation and development of the painters and the painters associations, was the first stage of the development of modern art in Indonesia. The second stage showed the important role of the higher education institutes for art. These institutes have developed since the 1950s and in the 1970s they were the main education institutes for painters and other artists. The artists awareness of the medium, forms or the organization of shapes were encouraged more intensely and these encouraged the exploring and experimental attitudes. Meanwhile, the information about the world's modern art, particularly Western Art; was widely and rapidly spread. The 1960s and 1970s were marked by the development of various abstractions and abstract art and the great number of explorations in various new media, like the experiment with collage, assemblage, mixed media. The works of the Neo Art Movement-group in the second half of the 1970s and in the 1980s shows environmental art and installations, influenced by the elements of popular art, from the commercial world and mass media, as well as the involvement of art in the social and environmental affairs. The issues about the environment, frequently launched by the intellectuals in the period of economic development starting in the 1970s, echoed among the artists, and they were widened in the social, art and cultural circles. The Indonesian economic development following the important change in the 1970s has caused a change in the life of the middle and upper class society, as has the change in various aspects of a big city, particularly Jakarta. The new genre emerged in 1975 which indicates contemporary art in Indonesia, when a group of young artists organized a movement, which was widely known as the Indonesian New Art Movement. This movement criticized international style, universalism and the long standing debate on an east-west-dichotomy. As far as the actual practice of the arts was concerned the movement criticized the domination of the art of painting and saw this as a sign of stagnation in Indonesian art development. Based on this criticism 'the movement' introduced ready-mades and installations (Jim Supangkat). Takes almost two decades that the New Art Movement activists were establishing Indonesian Installation art genre as contemporary paradigm and influenced the 1980's gene ration like, FX Harsono, Dadang Christanto, Arahmaiani, Tisna Sanjaya, Diyanto, Andarmanik, entering the 1990's decade as "rebellion period" ; reject towards established aesthetic mainstream i.e. painting, sculpture, graphic art which are insufficient to express "new language" and artistic needs especially to mediate social politic and cultural situation. Installation Art which contains open possibilities of creation become a vehicle for aesthetic establishment rejection and social politics stagnant expression in 1990s. Installation art accommodates two major field; first, the rejection of aesthetic establishment has a consequences an artists quest for medium; deconstruction models and cross disciplines into multi and intermedia i.e. performance, music, video etc. Second aspect is artists' social politic intention for changes, both conclude as characteristics of Indonesian Installation Art and establishing the freedom of expression in contemporary Indonesian Art until today.

  • PDF

Association between Genetic Polymorphisms of Milk Proteins and Milk Compositions in Holstein Cows (Holstein 종(種) 유우(乳牛)의 유단백질(乳蛋白質)의 유전적다형(遺傳的多型)과 유조성분간(乳組成分間)의 연관성)

  • Sang, Byong Chan;Lee, Jo Yoon;Choi, Jong Woo;Sung, Chang Keun
    • Korean Journal of Agricultural Science
    • /
    • v.20 no.1
    • /
    • pp.56-67
    • /
    • 1993
  • To applying of genetic markers of milk proteins as dairy cow registration and selection aids for genetic improvement, genopypes controlling the 4 milk protein loci, ${\alpha}S1$-casein (${\alpha}S1$-CN), ${\beta}$-casein(${\beta}$-CN), ${\kappa}$-casein(${\kappa}$-CN), and ${\beta}$-lactoglobulin(${\beta}$-LG), from a total of 159 Holstein lactating cows reared at National Animal Breeding Station in 1992 were detected by polyacrylamide gel(PAGE) electrophoresis, and associations between genetic polymorphisms of milk proteins and milk compositions were analyzed. The observed distribution of phenotypes for ${\alpha}S1$-CN, ${\beta}$-CN, ${\kappa}$-CN and ${\beta}$-LG were agreement with those expected under the assumption of genetic equilibrium. The observed genotypic frequencies of the ${\alpha}S1$-CN BB, ${\beta}$-CN AA, ${\kappa}$-CN AA and ${\beta}$-LG AB genotypes were founded to be very high as 79.87%, 84.28%, 71.70% and 49.10%, respectively. Gene frequencies were 0.899 and 0.101 for ${\alpha}S1-CN^B$ and ${\alpha}S1-CN^C$, 0.921 and 0.079 for ${\beta}-CN^A$ and ${\beta}-CN^B$, 0.837 and 0.163 for ${\kappa}-CN^A$ and ${\kappa}-CN^B$, 0.378 and 0.622 for ${\beta}-LG^A$ and ${\beta}-CN^B$. According to the results of analysis of variance, the genotypes of the ${\alpha}S1-CN$, ${\beta}-CN$, ${\kappa}-CN$ and ${\beta}-LG$ were significantly difference for fat, protein and total solid percentage in milk compositions. On milk compositions, the ${\kappa}$-CN BB genotype was very high fat and protein percentage more than ${\kappa}$-CN AA and AB genotypes, and ${\beta}$-LG AA genotype was very high fat percentage more than ${\beta}$-LG AB and BB genotype at 5% level of significant difference, respectively. As a consequence, the fat and protein percentage may be improved to select to ${\kappa}$-CN BB and ${\beta}$-LG AA genotypes.

  • PDF