• Title/Summary/Keyword: genetic epidemiology

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Glutathione S-transferase M1 and T1 Polymorphisms, Cigarette Smoking and HPV Infection in Precancerous and Cancerous Lesions of the Uterine Cervix

  • Sharma, Anita;Gupta, Sanjay;Sodhani, Pushpa;Singh, Veena;Sehgal, Ashok;Sardana, Sarita;Mehrotra, Ravi;Sharma, Joginder Kumar
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.15
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    • pp.6429-6438
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    • 2015
  • Glutathione S-transferases (GSTs) play an important role in detoxification of carcinogenic electrophiles. The null genotypes in GSTM1 and GSTT1 have been implicated in carcinogenesis. Present study was planned to evaluate the influence of genetic polymorphisms of GSTM1 and GSTT1 gene loci in cervical carcinogenesis. The study was conducted in Lok Nayak hospital, New Delhi. DNA from clinical scrapes of 482 women with minor gynaecologic complaints attending Gynaecology OPD and tumor biopsies of 135 cervical cancer cases attending the cancer clinic was extracted. HPV DNA was detected by standard polymerase chain reaction (PCR) using L1 consensus primer pair. Polymorphisms of GSTM1 and GSTT1 were analysed by multiplex PCR procedures. Differences in proportions were tested using Pearson's Chi-square test with Odds ratio (OR) and 95% confidence interval (CI). The risk of cervical cancer was almost three times in women with GSTM1 homozygous null genotype (OR-2.62, 95%CI, 1.77-3.88; p<0.0001). No association of GSTM1 or GSTT1 homozygous null genotypes was observed in women with normal, precancerous and cervical cancerous lesions among ${\leq}35$ or >35 years of age groups. Smokers with null GSTT1 genotype had a higher risk of cervical cancer as compared to non-smokers (OR-3.01, 95% CI, 1.10-8.23; p=0.03). The results further showed that a significant increased risk of cervical cancer was observed in HPV positive smoker women with GSTT1 (OR-4.36, 95% CI, 1.27-15.03; p=0.02) and GSTM1T1 (OR-3.87, 95% CI, 1.05-14.23; p=0.04) homozygous null genotypes as compared to HPV positive non smokers. The results demonstrate that the GST null genotypes were alone not associated with the development of cervical cancer, but interacted with smoking and HPV to exert effects in our Delhi population.

Is there any Relationship between Food Habits in the Last Two Decades and Gastric Cancer in North-western Iran?

  • Somi, Mohammad Hossein;Mousavi, Seyed Mohsen;Naghashi, Shahnaz;Faramarzi, Elnaz;Jafarabadi, Mohammad Asghari;Ghojazade, Morteza;Majidi, Alireza;Alavi, Seyed Ahmad Naseri
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.1
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    • pp.283-290
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    • 2015
  • Purpose: The aims of this case-control study were to assess the correlation between some food habits in the last two decades and gastric cancer in East Azerbaijan of Iran. Materials and Methods: In this hospital based case control study, 616 patients (212 gastric cancer patients, 404 cancer free patients) were recruited. Food habits of patients over the past two decades were assessed with a structured questionnaire. We used conditional logistic regression analysis for estimating crude and adjusted odds ratios (OR) and their respective 95% confidence intervals (95%CI). Results: In this study, over-eating, consumption of high fat milk and yogurt and especial types of cheese increased the risk of gastric cancer (All<0.05). Consumption of such especial cheeses such as Koze and Khiki increased the risk of gastric cancer by 12.6 fold (95% CI:1.99-79.36) and 7.36 fold (95% CI:1.33-40.54), respectively. In addition, high fat food, moldy food, and pickled vegetables consumption as well as reuse of cooking oil for frying were significantly associated with gastric cancer risk. Furthermore, intake of Ghorme (deep fried meat) was positively correlated with gastric cancer risk (OR:1.31;95%CI: 0.91-1.87). Conclusions: It can be confirmed that particular food habits which have been very common in East-Azerbaijan in the last two past decades increase risk of gastric cancer. According to our results and taking into account the long latency period of gastric cancer it can be concluded that nutrition education for a healthy diet should be performed from early childhood. However, further well designed cohort studies are needed to achieve more clear results.

Genetic Analysis of the 2019 Swine H1N2 Influenza Virus Isolated in Korean Pigs and Its Infectivity in Mice (2019년 국내에서 분리한 H1N2 돼지 인플루엔자바이러스 유전자 분석 및 이의 마우스에 대한 감염성)

  • Jang, Yunyueng;Seo, Sang Heui
    • Journal of Life Science
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    • v.30 no.9
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    • pp.749-762
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    • 2020
  • Influenza A viruses are circulating in a variety of hosts, including humans, pigs, and poultry. Swine influenza virus is a zoonotic pathogen that can be readily transmitted to humans. The influenza viruses of the 2009 H1N1 pandemic were derived from swine influenza viruses, and it has been suggested that the 1957 H2N2 pandemic and the 1968 H3N2 pandemic both originated in pigs. Pigs are regarded as a mixing vessel in the creation of novel influenza viruses since they are readily infected with human and avian influenza viruses. We isolated three novel H1N2 influenza viruses from pigs showing respiratory symptoms on a Korean farm in 2019. These viruses were reassortants, containing PA and NP genes from those of the 2009 H1N1 influenza virus in addition to PB2, PB1, HA, NA, M, and NS genes from those of triple-reassortant swine H3N2 and classical swine H1N2 influenza viruses circulating in Korean pigs. Mice infected with the isolated H1N2 influenza virus lost up to 17% body weight and exhibited interstitial pneumonia involving infiltration of many inflammatory cells. Results suggest that close surveillance to detect emerging influenza viruses in pigs is necessary for the health of both pigs and humans.

Prostate Stem Cell Antigen Single Nucleotide Polymorphisms Influence Risk of Estrogen Receptor Negative Breast Cancer in Korean Females

  • Kim, Sook-Young;Yoo, Jae-Young;Shin, Ae-Sun;Kim, Yeon-Ju;Lee, Eun-Sook;Lee, Yeon-Su
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.1
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    • pp.41-48
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    • 2012
  • Introduction: Breast cancer is the second leading cancer in Korean women. To assess potential genetic associations between the prostate stem cell antigen (PSCA) gene in the chromosome 8q24 locus and breast cancer risk in Korean women, 13 SNPs were selected and associations with breast cancer risk were analyzed with reference to hormone receptor (HR) and menopausal status. Methods:We analyzed DNA extracted from buffy coat from 456 patients and 461 control samples, using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) based upon region-specific PCR followed by allelespecific single base primer extension reactions. Risks associated with PSCA genotypes and haplotypes were estimated with chi-square test (${\chi}^2$-test), and polytomous logistic regression models using odds ratios (OR) and 95% confidence intervals (CIs), by HR and menopausal status. Results: In case-control analysis, odds ratios (OR) of rs2294009, rs2294008, rs2978981, rs2920298, rs2976395, and rs2976396 were statistically significant only among women with estrogen receptor (ER) negative cancers, and those of rs2294008, rs2978981, rs2294010, rs2920298, rs2976394, rs10216533, and rs2976396 were statistically significant only in pre-menopausal women, and not in postmenopausal women. Risk with the TTGGCAA haplotype was significantly elevated in ER (-) status (OR= 1.48, 95% CI= 1.03~2.12, p<0.05). Especially risk of allele T of rs2294008 is significantly low in pre-menopausal breast cancer patients and AA genotype of rs2976395 in ER (-) status represents the increase of OR value. Conclusion: This report indicated for the first time that associations exist between PSCA SNPs and breast cancer susceptibility in Korean women, particularly those who are pre-menopausal with an estrogen receptor negative tumor status.

Meta-analysis of Associations between the MDM2-T309G Polymorphism and Prostate Cancer Risk

  • Chen, Tao;Yi, Shang-Hui;Liu, Xiao-Yu;Liu, Zhi-Gang
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.9
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    • pp.4327-4330
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    • 2012
  • The mouse double minute 2 (MDM2) gene plays a key role in the p53 pathway, and the SNP 309T/G single-nucleotide polymorphism in the promoter region of MDM2 has been shown to be associated with increased risk of cancer. However, no consistent results were found concerning the relationships between the polymorphism and prostate cancer risk. This meta-analysis, covering 4 independent case-control studies, was conducted to better understand the association between MDM2-SNP T309G and prostate cancer risk focusing on overall and subgroup aspects. The analysis revealed, no matter what kind of genetic model was used, no significant association between MDM2-SNP T309G and prostate cancer risk in overall analysis (GT/TT: OR = 0.84, 95%CI = 0.60-1.19; GG/TT: OR = 0.69, 95%CI = 0.43-1.11; dominant model: OR = 0.81, 95%CI= 0.58-1.13; recessive model: OR = 1.23, 95%CI = 0.95-1.59). In subgroup analysis, the polymorphism seemed more likely to be a protective factor in Europeans (GG/TT: OR = 0.52, 95%CI = 0.31-0.87; recessive model: OR = 0.58, 95%CI = 0.36-0.95) than in Asian populations, and a protective effect of the polymorphism was also seen in hospital-based studies in all models (GT/TT: OR = 0.74, 95%CI = 0.57-0.97; GG/TT: OR = 0.55, 95%CI = 0.38-0.79; dominant model: OR = 0.69, 95%CI = 0.54-0.89; recessive model: OR = 0.70, 95%CI = 0.51-0.97). However, more primary studies with a larger number of samples are required to confirm our findings.

TIC DISORDER AND OBSESSIVE COMPULSIVE DISORDER IN CHILDHOOD (틱 장애 및 소아기 발병 강박 장애)

  • Hong, Hyun-Ju;Song, Dong-Ho
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.16 no.2
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    • pp.183-191
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    • 2005
  • Tic disorder including Tourette's disorder is a neurodevelopmental disorder that appears in childhood and characterized by the presence of motor and vocal tics. Childhood-onset obsessive-compulsive disorder (OCD) is suggested to be a phenomenologically and etiologically distinct subtype of OCD, bearing a close genetic relationship to tic-disorders. Tourette's disorder and OCD are comorbid in $40-75\%$ of patients initially diagnosed with either disorder. Basal ganglia and cortico-striato-thalamic circuits are implicated in the pathophysiology of both disorders and these disorders have similar clinical features. Over the past decades, the progress in research on Tourette's disorder and OCD has been extraordinary. This review describes some of important insights from these work, involving these areas : 1) clinical implication 2) genetics and epidemiology 3) brain imaging study 4) neuroche-mistry 5) pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS).

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Molecular Variation in the Paragonimus heterotremus Complex in Thailand and Myanmar

  • Sanpool, Oranuch;Intapan, Pewpan M.;Thanchomnang, Tongjit;Janwan, Penchom;Nawa, Yukifumi;Blair, David;Maleewong, Wanchai
    • Parasites, Hosts and Diseases
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    • v.51 no.6
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    • pp.677-681
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    • 2013
  • Paragonimiasis is an important food-borne parasitic zoonosis caused by infection with lung flukes of the genus Paragonimus. Of the 7 members of the genus known in Thailand until recently, only P. heterotremus has been confirmed as causing human disease. An 8th species, P. pseudoheterotremus, has recently been proposed from Thailand, and has been found in humans. Molecular data place this species as a sister species to P. heterotremus, and it is likely that P. pseudoheterotremus is not specifically distinct from P. heterotremus. In this study, we collected metacercariae of both nominal species (identification based on metacercarial morphology) from freshwater crabs from Phetchabun Province in northern Thailand, Saraburi Province in central Thailand, and Surat Thani Province in southern Thailand. In addition, we purchased freshwater crabs imported from Myanmar at Myawaddy Province, western Thailand, close to the Myanmar-Thailand border. The DNAs extracted from excysted metacercariae were PCR-amplified and sequenced for ITS2 and cox1 genes. The ITS2 sequences were nearly identical among all samples (99-100%). Phylogenies inferred from all available partial cox1 sequences contained several clusters. Sequences from Indian P. heterotremus formed a sister group to sequences from P. pseudoheterotremus-type metacercariae. Sequences of P. heterotremus from Thailand, Vietnam, and China formed a separate distinct clade. One metacercaria from Phitsanulok Province was distinct from all others. There is clearly considerable genetic variation in the P. heterotremus complex in Thailand and the form referred to as P. pseudoheterotremus is widely distributed in Thailand and the Thai-Myanmar border region.

Surveillance and molecular epidemiology of avian influenza viruses from birds in zoos, backyard flocks and live bird markets in Korea

  • Jang, Jin-Wook;Kim, Il-Hwan;Kwon, Hyuk-Joon;Hong, Seung-Min;Kim, Jae-Hong
    • Korean Journal of Veterinary Research
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    • v.52 no.4
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    • pp.239-252
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    • 2012
  • The circulation and infection of avian influenza virus (AIV) in zoos and backyard flocks has not been systematically investigated. In the present study, we surveyed the birds including those in live bird markets (LBMs) and evaluated co-circulation of AIVs among them. Overall, 26 H9N2 AIVs and one H6N2 AIV were isolated from backyard flocks and LBMs, but no AIVs were isolated from zoo birds. Genetic analysis of the HA and NA genes indicated that most of the H9N2 AIVs showed higher similarities to AIVs circulating in domestic poultry than to those in wild birds, while the H6N2 AIV isolate from an LBM did to AIVs circulating in migratory wild birds. In serological tests, 15% (391/2619) of the collected sera tested positive for AIVs by competitive-ELISA. Among them, 34% (131/391) of the sera tested positive for AIV H9 antigen by HI test, but only one zoo sample was H9 positive. Although AIVs were not isolated from zoo birds, the serological results indicated that infection of AIVs might occur in zoos. It was also confirmed that H9N2 AIVs continue to circulate and evolve between backyard flocks and LBMs. Therefore, continuous surveillance and monitoring of these flocks should be conducted to control further epidemics.

Epidemiological Typing and Characterization of dfr Genes of Shigella sonnei Isolates in Korea During the Last Two Decades

  • Kim, Ki-Sung;Oh, Jae-Young;Jeong, Yong-Wook;Cho, Jae-We;Park, Jong-Chun;Cho, Dong-Teak
    • Journal of Microbiology and Biotechnology
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    • v.12 no.1
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    • pp.106-113
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    • 2002
  • One-hundred and twenty-four trimethoprim-resistant Shigella sonnei isolates extracted in Korea during the last two decades were investigated for their epidemiological relationship and mechanisms of resistance to trimethoprim. The S. sonnei isolates were distributed into two groups by three different epidemiological tools: biotyping, antibiogram, and pulsed-field gel electrophoresis. One group contained the isolates from the 1980s and the other group included the isolates from the 1990s. The geometric mean MICs of trimethoprim in S. sonnei isolates from the 1980s and 1990s were found to be $672.9{\mu}g/ml\;and\;>2,048{\mu}g/ml$, respectively. Trimethoprim resistance was associated with dfrA5, dfrA12, and dfrA13 genes in the isolates from the 1980s, dfrA1, dfrA5, and dfrA12 in the isolates from 1991, and dfrA1 and dfrA12 in the isolates from 1992 to 1999. The dfrA1 gene was located downstream of the intI2 gene in Tn7, which was located on chromosome. Some dfrA12 genes were found as gene cassettes in the class 1 integron. The dfrA5 and dfrA13 genes were located on conjugative plasmids. These results suggested that a clonal change occurred in S. sonnei isolates in Korea during the last two decades and that dfr genes located on different transposable genetic elements had gradually changed.

Mutation Screening and Association Study of the Folylpolyglutamate Synthetase (FPGS) Gene with Susceptibility to Childhood Acute Lymphoblastic Leukemia

  • Piwkham, Duangjai;Siriboonpiputtana, Teerapong;Beuten, Joke;Pakakasama, Samart;Gelfond, Jonathan AL;Paisooksantivatana, Karan;Tomlinson, Gail E;Rerkamnuaychoke, Budsaba
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.11
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    • pp.4727-4732
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    • 2015
  • Background: Folylpolyglutamate synthetase (FPGS), an important enzyme in the folate metabolic pathway, plays a central role in intracellular accumulation of folate and antifolate in several mammalian cell types. Loss of FPGS activity results in decreased cellular levels of antifolates and consequently to polyglutamatable antifolates in acute lymphoblastic leukemia (ALL). Materials and Methods: During May 1997 and December 2003, 134 children diagnosed with ALL were recruited from one hospital in Thailand. We performed a mutation analysis in the coding regions of the FPGS gene and the association between single nucleotide polymorphisms (SNPs) within FPGS in a case-control sample of childhood ALL patients. Mutation screening was conducted by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and subsequently with direct sequencing (n=72). Association analysis between common FPGS variants and ALL risk was done in 98 childhood ALL cases and 95 healthy volunteers recruited as controls. Results: Seven SNPs in the FPGS coding region were identified by mutation analysis, 3 of which (IVS13+55C>T, g.1297T>G, and g.1508C>T) were recognized as novel SNPs. Association analysis revealed 3 of 6 SNPs to confer significant increase in ALL risk these being rs7039798 (p=0.014, OR=2.14), rs1544105 (p=0.010, OR= 2.24), and rs10106 (p=0.026, OR=1.99). Conclusions: These findings suggested that common genetic polymorphisms in the FPGS coding region including rs7039789, rs1544105, and rs10106 are significantly associated with increased ALL risk in Thai children.