• Title/Summary/Keyword: genetic

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Identification of DNA Methylation Markers for NSCLC Using Hpall-Mspl Methylation Microarray (Hpall-Mspl Methylation Microarray를 이용한 비소세포폐암의 DNA Methylation Marker 발굴)

  • Kwon, Mi Hye;Lee, Go Eun;Kwon, Sun Jung;Choi, Eugene;Na, Moon Jun;Cho, Hyun Min;Kim, Young Jin;Sul, Hye Jung;Cho, Young Jun;Son, Ji Woong
    • Tuberculosis and Respiratory Diseases
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    • v.65 no.6
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    • pp.495-503
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    • 2008
  • Background: Epigenetic alterations in certain genes are now known as at least important as genetic mutation in pathogenesis of cancer. Especially abnormal hypermethylation in or near promoter region of tumor suppressor genes (TSGs) are known to result in gene silencing and loss of gene function eventually. The authors tried to search for new lung cancer-specific TSGs which have CpG islands and HpaII sites, and are thought to be involved in carcinogenesis by epigenetic mechanism. Methods: Tumor tissue and corresponding adjacent normal tissue were obtained from 10 patients who diagnosed with non small cell lung cancer (NSCLC) and underwent surgery in Konyang university hospital in 2005. Methylation profiles of promoter region of 21 genes in tumor tissue & non-tumor tissue were examined with HpaII-MspI methylation microarray (Methyl-Scan DNA chip$^{(R)}$, Genomic tree, Inc, South Korea). The rates of hypermethylation were compared in tumor and non-tumor group, and as a normal control, we obtained lung tissue from two young patients with pneumothorax during bullectomies, methylation profiles were examined in the same way. Results: Among the 21 genes, 10 genes were commonly methylated in tumor, non-tumor, and control group. The 6 genes of APC, AR, RAR-b, HTR1B, EPHA3, and CFTR, among the rest of 11 genes were not methylated in control, and more frequently hypermethylated in tumor tissue than non-tumor tissue. Conclusion: In the present study, HTR1B, EPHA3, and CFTR are suggested as possible novel TSGs of NSCLC by epigenetic mechanism.

A Study on the Degree of Need of Human Structure and Function Knowledge in Clinical Nurses (기초간호자연과학의 인체구조와 기능 내용별 필요도에 대한 연구)

  • Choe, Myoung-Ae;Byun, Young-Soon;Seo, Young-Sook;Hwang, Ae-Ran;Kim, Hee-Seung;Hong, Hae-Sook;Park, Mi-Jung;Choi, Smi;Lee, Kyung-Sook;Seo, Wha-Sook;Shin, Gi-Soo
    • Journal of Korean Biological Nursing Science
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    • v.1 no.1
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    • pp.1-24
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    • 1999
  • The purpose of this study was to define the content of requisite human structure and function knowledge needed for clinical knowledge of nursing practice. Subjects of human structure and function were divided into 10 units, and each unit was further divided into 21 subunits, resulting in a total of 90 items. Contents of knowledge of human structure and function were constructed from syllabus of basic nursing subjects in 4 college of nursing, and textbooks published by nurse scholars prepared with basic nursing sciences. The degree of need of 90 items was measured with a 4 point scale. The subjects of this study were college graduated 136 nurses from seven university hospitals in Seoul and three university hospitals located in Chonnam Province, Kyungbook Province, and Inchon. They have been working at internal medicine ward, surgical ward, intensive care unit, obstetrics and gynecology ward, pediatrics ward, opthalmology ward, ear, nose, and throat ward, emergency room, rehabilitation ward, cancer ward, hospice ward, and their working period was mostly under 5 years. The results were as follows: 1. The highest scored items of human structure and function knowledge necessary for nursing practice were electrolyte balance, blood clotting mechanism and anticoagulation mechanism, hematopoietic function, body fluid balance, function of plasma, and anatomical terminology in the order of importance. The lowest scored items of human structure and function knowledge necessary for nursing practice was sexual factors of genetic mutation. 2. The highest order of need according to unit was membrane transport in the living unit, anatomical terminology in movement and exercise unit, mechanism of hormone function in regulation and integration unit, component and function of blood in oxygenation function unit, structure and function of digestive system in digestive and energy metabolism unit, temperature regulation in temperature regulation unit electrolyte balance in body fluid and electrolyte unit, concept of immunity in body resistance unit, and genetics terminology in genetics unit. The highest order of importance according to subunit was membrane transportation in cell subunit, classification of tissues in tissue unit, function of skin and skin in skin subunit, anatomical derivatives of the skeleton subunit, classification of joints in joint subunit, an effect of exercise on muscles in muscle subunit, function of brain in nervous system subunit, special sense in sensory subunit mechanism of hormone function in endocrine subunit, structure and function of female reproductive system in reproductive system unit, structure and function of blood in blood unit, structure of heart, electrical and mechanical function in cardiovascular system unit, structure of respiratory system in respiratory system subunit, structure and function of digestive system in digestive system subunit, hormonal regulation of metabolism in nutrition and metabolism subunit, function of kidney in urologic system subunit, electolyte balance in body fluid, electolyte and acid-base balance subunit. 3. The common content of human structure and function knowledge need for all clinical areas in nursing was structure and function of blood, hematopoietic function, function of plasm, coagulation mechanism and anticoagulation mechanism, body fluid, electrolyte balance, and acid-base balance. However, the degree of need of each human structure and function knowledge was different depending on clinical areas. 4. Significant differences in human structure and function knowledge necessary for nursing practice such as skin and derivatives of the skin, growth and development of bone, classification of joint, classification of muscle, structure of muscle, function of muscle, function of spinal cord, peripheral nerve, structure and function of pancrease, component and function of blood, function of plasma, structure and function of blood, hemodynamics, respiratory dynamics, gas transport, regulation of respiration, chemical digestion of foods, absorption of foods, characteristics of nutrients, metabolism and hormonal regulation, body energy balance were demonstrated according to the duration of work. 5. Significant differences in human structure and function knowledge necessary for nursing practice such as classification of tissue, classification of muscles, function of muscles, muscle metabolism, classification of skeletal muscles, classification of nervous system, neurotransmitters, mechanism of hormone function, pituitary and pituitary hormone, structure and function of male reproductive organ, structure and function of female reproductive organ, component and function of blood, function of plasma, coagulation mechanism and anticoagulation mechanism, gas exchange, gas transport, regulation of respiration, characteristics of nutrients, energy balance, function of kidney, concept of immunity, classification and function of immunity were shown according to the work area. Based on these findings, all the 90 items constructed by Korean Academic Society of Basic Nursing Science should be included as contents of human structure and function knowledge.

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A Search of the Community between Eight Constitution Medicine and Disease Ecology: A Perspective from Medical Geography (8체질의학과 질병생태학의 공통성에 관한 연구: 의료지리학적 접근을 중심으로)

  • Kim, Changkeun;Ryu, Je-Hun;Kim, Younghoon;Park, Sookyung;Jang, YoungHun;Han, JungHoon
    • Journal of the Korean Geographical Society
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    • v.49 no.6
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    • pp.897-916
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    • 2014
  • There is a considerable community between Eight Constitution Medicine and disease ecology in that they examine the relationship between humans and environment in terms of genetic, environmental and cultural factors, in addition to the factor of germs. In this respect, the purpose of this research aims to investigate the community between Eight Constitution Medicine, a branch of Eastern Medicine and disease ecology in geography. The research method is to analyse the clinical results from 647 patients and the data from a field survey on the Yeonggwang-gun County, Jeollanam-do Province. The results are summarized as the following: First, geographical distribution of patients varies depending on the type of physical constitution; it is also divided into two types, an oceanic type and an inland type. Second, it is highly probable that there is a significant relation between a vulnerable disease in association with a type of physical constitution and patient's native place; there are diseases that are not associated with all the patients who have the same constitution; they might be incurred by the eating or life habits in association with the characteristics of geographical environment. Third, the case study of Yeonggwang-gun County, Jeollanam-do Province, with a focus on the mutual relationship among the three factors. shows that patients, who share in common the eating or life habits that coincide with their own personal types of constitution, maintain a good health condition; if not, they tend to be exposed to a various kinds of disease. Because the study on the community between Eight Constitution Medicine and disease ecology is now at the early stage, diverse types of approaches should be tried to be applied in the future.

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Physiological Changes of Juvenile Abalone, Haliotis sieboldii Exposed to Acute Water-temperature Stress (급격한 수온 스트레스에 따른 시볼트전복, Haliotis sieboldii 치패의 생리적 변화)

  • Kim Tae-Hyung;Kim Kyung-Ju;Choe Mi-Kyung;Yeo In-Kyu
    • Journal of Aquaculture
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    • v.19 no.2
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    • pp.77-83
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    • 2006
  • This study was conducted to investigate changes of hemolymph count, antioxidant enzyme activities (catalase: CAT and superoxide dismutase: SOD) and Heat Shock Protein 70 (HSP70) mRNA in hemolymph, hepatopancreas and gill of abalone (Haliotis sieboldii) exposed to various water temperatures. Abalones were exposed to 10, 15, 20, 25 or $30^{\circ}C$ for 0, 6, 12, 24 or 48 hours. Survival rate of abalone was 100% at 10, 15, 20 and $25^{\circ}C$, but 0% at $30^{\circ}C$. Hemolymph counts increased at lower water temperatures (10 and $15^{\circ}C$) and decreased at $30^{\circ}C$. SOD activity decreased immediately after exposure to lower or higher water temperatures compared to the control ($20^{\circ}C$) with an exception at $30^{\circ}C$ where the activity increased. At lower temperatures, SOD activity rose high after 24 hours, but decreased again at 48 hours. At $25^{\circ}C$, it decreased compared to the control. CAT activity decreased immediately after exposure to 10 or $25^{\circ}C$ compared to the control, and then was recovered to the initial level after increment. At $15^{\circ}C$, CAT activity was high after 6 hours, and then was recovered to the initial level after increment. At $30^{\circ}C$, the activity decreased throughout the experiment. The HSP70 mRNA expression in gill increased at lower temperatures compared to the control ($20^{\circ}C$) and $25^{\circ}C$. In this study, rapid change of wale, temperature caused stress response in abalone which had been raised at $20^{\circ}C$. At molecular level, HSP70 was expressed rapidly, but antioxidant enzymes like SOD and CAT were expressed later than HSP70. At 15 and $25^{\circ}C$ of water temperatures, the HSP70, SOD and CAT expression were stable with time. However, at $30^{\circ}C$, all abalone died possibly because they could not develop resistance to high temperature.

Prognostically Significant Fusion Oncogenes in Pakistani Patients with Adult Acute Lymphoblastic Leukemia and their Association with Disease Biology and Outcome

  • Sabir, Noreen;Iqbal, Zafar;Aleem, Aamer;Awan, Tashfeen;Naeem, Tahir;Asad, Sultan;Tahir, Ammara H;Absar, Muhammad;Hasanato, Rana MW;Basit, Sulman;Chishti, Muhammad Azhar;Ul-Haque, Muhammad Faiyaz;Khalid, Ahmad Muktar;Sabar, Muhammad Farooq;Rasool, Mahmood;Karim, Sajjad;Khan, Mahwish;Samreen, Baila;Akram, Afia M;Siddiqi, Muhammad Hassan;Shahzadi, Saba;Shahbaz, Sana;Ali, Agha Shabbir
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3349-3355
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    • 2012
  • Background and objectives: Chromosomal abnormalities play an important role in genesis of acute lymphoblastic leukemia (ALL) and have prognostic implications. Five major risk stratifying fusion genes in ALL are BCR-ABL, MLL-AF4, ETV6-RUNX11, E2A-PBX1 and SIL-TAL1. This work aimed to detect common chromosomal translocations and associated fusion oncogenes in adult ALL patients and study their relationship with clinical features and treatment outcome. Methods: We studied fusion oncogenes in 104 adult ALL patients using RT-PCR and interphase-FISH at diagnosis and their association with clinical characteristics and treatment outcome. Results: Five most common fusion genes i.e. BCR-ABL (t 9; 22), TCF3-PBX1 (t 1; 19), ETV6-RUNX1 (t 12; 21), MLL-AF4 (t 4; 11) and SIL-TAL1 (Del 1p32) were found in 82/104 (79%) patients. TCF3-PBX1 fusion gene was associated with lymphadenopathy, SIL-TAL1 positive patients had frequent organomegaly and usually presented with a platelets count of less than $50{\times}10^9/l$. Survival of patients with fusion gene ETV6-RUNX1 was better when compared to patients harboring other genes. MLL-AF4 and BCR-ABL positivity characterized a subset of adult ALL patients with aggressive clinical behaviour and a poor outcome. Conclusions: This is the first study from Pakistan which investigated the frequency of5 fusion oncogenes in adult ALL patients, and their association with clinical features, treatment response and outcome. Frequencies of some of the oncogenes were different from those reported elsewhere and they appear to be associated with distinct clinical characteristics and treatment outcome. This information will help in the prognostic stratification and risk adapted management of adult ALL patients.

Interleukin-4 and -8 Gene Polymorphisms and Risk of Gastric Cancer in a Population in Southwestern China

  • Pan, Xiong-Fei;Wen, Ying;Loh, Marie;Wen, Yuan-Yuan;Yang, Shu-Juan;Zhao, Zhi-Mei;Tian, Zhi;Huang, He;Lan, Hui;Chen, Feng;Soong, Richie;Yang, Chun-Xia
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.7
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    • pp.2951-2957
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    • 2014
  • Background: Gastric carcinogenesis is a complicated process that involves environmental and genetic factors like interleukin-4 (IL-4) and IL-8. Single nucleotide polymorphisms in their genes are associated with changed levels of gene expression. Here, we investigated the association between IL4-590 C>T and IL8-251T>A and gastric cancer (GC) risk in Sichuan of Southwestern China. Materials and Methods: We surveyed the research subjects using a self-designed questionnaire with questions on demographic factors and putative risk factors. Approximately 2-5ml of whole blood was collected after field survey to analyze IL4-590 C>T and IL8-251T>A genotypes using MALDI-TOF MS. Results: Our study recruited 308 pairs of GC patients and controls, including 224 (72.7%) men and 84 (27.3%) women in each group. There were 99 cardia and 176 noncardia GC patients in the case group. The case and control groups had an average age of $57.7{\pm}10.6$ ($mean{\pm}SD$) and $57.6{\pm}11.1$ years. GC patients reported a significantly greater proportion of family history of cancer (29.9% vs 10.7%, p<0.01) and drinking (54.6% vs 43.2%, p<0.01) than did controls. Variant genotypes of IL-4-590 C>T and IL-8-251 T>A were not associated with overall GC risk (adjusted OR, 0.89; 95%CI, 0.61-1.28 for CT or CC vs TT; adjusted OR, 1.14; 95%CI, 0.86-1.79 for TA or AA vs TT). Stratification analysis of two SNPs for risk by subsites only found that variant IL-8-251 TA or AA genotype was associated with increased noncardia GC risk (adjusted OR, 2.58; 95%CI, 1.19-5.57). We did not observe interactions between the IL-8-251 T>A genotype and smoking (adjusted OR, 0.38; 95%CI, 0.08-1.79) or drinking (adjusted OR, 0.36; 95%CI, 0.08-1.65) for risk of noncardia GC. Conclusions: Our data indicate no association between the two SNPs of IL-4-590 and IL-8-251 with overall GC risk, while the IL-8-251 TA or AA genotype conferred risk of cardia GC. Our findings contribute to the evidence body for risk of SNPs associated with the development of gastric cancer in this region.

Association Analysis between (AAT)n Repeats in the Cannabinoid Receptor 1 Gene and Schizophrenia in a Korean Population (한국인에서 조현병과 Cannabinoid Receptor 1 유전자의 삼핵산 반복서열의 연합에 대한 연구)

  • Kim, Ji-Won;Roh, Yang-Ho;Kim, Min-Jea;Kim, Chea-Ri;Park, Byung-Lae;Bae, Joon Seol;Shin, Hyoung Doo;Choi, Ihn-Geun;Han, Sang-Woo;Hwang, Jaeuk;Woo, Sung-Il
    • Korean Journal of Biological Psychiatry
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    • v.21 no.3
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    • pp.99-106
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    • 2014
  • Objectives Previous studies suggest that the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. According to linkage studies, this gene is located on chromosome 6q14-q15, which is known to harbor the schizophrenia susceptibility locus (locus 5, SCZ5, OMIM 803175). The pharmacological agent delta-9-tetrahydrocannabinol (${\Delta}$-9-THC) seems to elicit the symptoms of schizophrenia. The association between CNR1 polymorphisms and schizophrenia is actively being investigated, and some studies have linked the AAT-trinucleotide repeats in CNR1 to the onset of schizophrenia. In this study, we have investigated the association between the AAT-trinucleotide repeats in CNR1 and schizophrenia by studying schizophrenia patients and healthy individuals from Korea. Methods DNA was extracted from the blood samples of 394 control subjects and 337 patients diagnosed with schizophrenia (as per the Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria). After polymerase chain reaction amplification, a logistic regression analysis, with age and gender as the covariates, was performed to study the variations in the AAT-repeat polymorphisms between the two groups. Results In total, 8 types of trinucleotide repeats were identified, each containing 7, 8, 10, 11, 12, 13, 14, and 15 repeats, respectively. $(AAT)_{13}$ allele was most frequently observed, with a frequency of 33.6% and 31.6% in the patient and control groups, respectively. The frequency of the other repeat alleles in the patient group (in the decreasing order) was as follows : $(AAT)_{13}$ 33.6%, $(AAT)_{14}$ 21.6%, $(AAT)_{12}$ 18.5%, and $(AAT)_{7}$ 11.1%. The frequency of the repeat alleles in the control group (in the decreasing order) was as follows : $(AAT)_{13}$ 31.6%, $(AAT)_{14}$ 24.5%, $(AAT)_{12}$ 17.2%, and $(AAT)_{7}$ 11.6%. However, there were no significant differences in the AAT-repeat polymorphisms of the CNR1 gene between the patient group and the control group. Conclusions Although our study revealed no significant association of the AAT-repeat polymorphism of the CNR1 gene with schizophrenia, it will serve as a good reference for future studies designed to examine the cannabinoid hypothesis of schizophrenia.

Characterization and breeding of a new cultivar Pleurotus ostreatus 'Heuksol' (느타리버섯 신품종 '흑솔'의 육성 및 특성)

  • Oh, Min-Ji;Im, Ji-Hoon;Shin, Pyung-Gyun;Oh, Youn-Lee;Jang, Kab-Yeul;Kon, Won-Sik
    • Journal of Mushroom
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    • v.15 no.3
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    • pp.129-133
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    • 2017
  • Oyster mushroom is a type of mushroom that is commonly cultivated and consumed in Korea. P. ostreatus 'Suhan' is a preferred cultivar for many mushroom farmers because it has a dark pileus and thick stipe. However, as it is very sensitive to environmental conditions, farmers consistently demand an alternative cultivar. To develop a new cultivar, the parental strains KMCC01680 ('Suhan') and KMCC00478 ('Gosol') were selected from various collected P. ostreatus strains by cultivating genetic resources. P. ostreatus 'Heuksol' was developed by the method of Mon-Mon crossing between monokaryotic strains derived from 'Suhan' and 'Gosol'. Thirty strains of 174 crossed strains were initially selected by cultivation experiments. After bulk cultivation tests, 'Heuksol' was selected. The nuclear DNA profile of 'Heuksol' was similar to those of the parental strains, 'Suhan' and 'Gosol', when RAPD (random amplified polymorphic DNA) primers and UPF (Universal PCR Fingerprinting) 2, 3, and 4 were used. The optimum temperature for mycelial growth was $30^{\circ}C$ for 'Heuksol', but medium-high temperatures were also appropriate, especially $13-20^{\circ}C$. The fruiting body production per bottle (1,100 mL) was approximately 140.8 g. When compared to the control strain 'Suhan', the thickness of the stipe of 'Heuksol' was greater than that of 'Suhan' (13.5 mm vs 9.4 mm). The pileus diameter of 'Heuksol' was similar to that of 'Suhan' and the pileus thickness of 'Heuksol' and 'Suhan' was 19.7 mm and 21.8 mm, respectively. 'Heuksol' had more a productive stipe number than 'Suhan' and the pileus of 'Heuksol' was dark gray, even at high temperatures. Therefore, it was suggested that this new cultivar, 'Heuksol', could provide an alternative to 'Suhan' and contribute to the profit of oyster mushroom farms.

Paraoxonase 1 (PON1) Q192R Gene Polymorphism and Cancer Risk: A Meta-Analysis Based on 30 Publications

  • Zhang, Meng;Xiong, Hu;Fang, Lu;Lu, Wei;Wu, Xun;Huang, Zhan-Sen;Wang, Yong-Qiang;Cai, Zhi-Ming;Wu, Song
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.10
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    • pp.4457-4463
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    • 2015
  • Common genetic variation Q192R in the paraoxonase 1 (PON1) gene has been considered to be implicated in the development of many cancers. Nevertheless, results from the related studies were inconsistent. To elucidate the association, we performed a meta-analysis for 8,112 cases and 10,037 controls from 32 published case-control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of the association by STATA 12.0 software. Overall, we revealed that the PON1-192R allele was associated with a reduced risk of the overall cancers. Moreover, in the stratified analysis by cancer types (breast cancer, prostate cancer, brain cancer etc.), the results showed that PON1-192R allele was associated with a decreased risk in breast cancer (R vs Q: OR=0.605, 95% CI=0.378-0.967, $P_{heterogeneity}=0.000$; RR vs QQ: OR=0.494, 95% CI=0.275-0.888, $P_{heterogeneity}=0.002$; RQ vs QQ: OR=0.465, 95% CI=0.259-0.835, $P_{heterogeneity}=0.000$; and RR+RQ vs QQ: OR=0.485, 95% CI=0.274-0.857, $P_{heterogeneity}=0.000$), and associated with prostate cancer in homozygote (RR vs QQ: OR=0.475, 95% CI=0.251-0.897, $P_{heterogeneity}=0.001$) and recessive models (RR vs RQ+QQ: OR=0.379, 95% CI=0.169-0.853, $P_{heterogeneity}=0.000$), while an increased risk was identified in lymphoma (R vs Q: OR=1.537, 95% CI=1.246-1.896, $P_{heterogeneity}=0.944$; RR vs QQ: OR=2.987, 95% CI=1.861-4.795, $P_{heterogeneity}=0.350$; RR+RQ vs QQ: OR=1.354, 95% CI=1.021-1.796, $P_{heterogeneity}=0.824$; and RR vs RQ+QQ: OR=2.934, 95% CI=1.869-4.605, $P_{heterogeneity}=0.433$), and an increased risk in prostate cancer under heterozygote comparison (RQ vs QQ: OR=1.782, 95% CI=1.077-2.950, $P_{heterogeneity}=0.000$) and dominant models (RR+RQ vs QQ: OR=1.281, 95% CI=1.044-1.573, $P_{heterogeneity}=0.056$). When subgroup analysis that performed by the control source (hospital based or population based), a decreased risk of the overall cancers was revealed by homozygote (RR vs QQ: OR=0.601, 95% CI=0.366-0.987, $P_{heterogeneity}=0.000$) and dominant models (RR vs RQ+QQ: OR= 0.611, 95% CI=0.384-0.973, $P_{heterogeneity}=0.000$) in hospital based group. Stratifying by ethnicity, a significantly reduced risk of the overall cancers under allele contrast model (R vs Q: OR=0.788, 95% CI=0.626-0.993, $P_{heterogeneity}=0.000$) was uncovered in Caucasian. In summary, these findings suggested that PON1 Q192R polymorphism was associated with a reduced risk of the overall cancers, nevertheless, it might increase cancer susceptibility of prostate and lymphoma risk. Large well-designed epidemiological studies will be continued on this issue of interest.

Susceptibility Loci Associations with Prostate Cancer Risk in Northern Chinese Men

  • Wang, Na-Na;Xu, Yong;Yang, Kuo;Wei, Dong;Zhang, Yao-Guang;Liu, Ming;Shi, Xiao-Hong;Liang, Si-Ying;Sun, Liang;Zhu, Xiao-Quan;Yang, Yi-Ge;Tang, Lei;Zhao, Cheng-Xiao;Wang, Xin;Chen, Xin;Hui, Juan;Zhang, Yu-Hong;Zhu, Ling;Yang, Fan;Zhang, Yu-Rong;Yang, Ze;Wang, Jian-Ye
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3075-3078
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    • 2013
  • Background: KLK3 gene products, like human prostate-specific antigen (PSA), are important biomarkers in the clinical diagnosis of prostate cancer (PCa). G protein-coupled receptor RFX6, C2orf43 and FOXP4 signaling plays important roles in the development of PCa. However, associations of these genes with PCa in northern Chinese men remain to be detailed. This study aimed to investigate their impact on occurrence and level of malignancy. Methods: All subjects were from Beijing and Tianjin, including 266 cases with prostate cancer and 288 normal individuals as controls. We evaluated associations between clinical covariates (age at diagnosis, prostate specific antigen, Gleason score, tumor stage and aggressive) and 6 candidate PCa risk loci, genotyped by PCR- high resolution melting curve and sequencing methods. Results: Case-control analysis of allelic frequency of PCa associated with PCa showed that one of the 6 candidate risk loci, rs339331 in the RFX6 gene, was associated with reduced risk of prostate cancer (odds ratio (OR) = 0.73, 95% confidence interval (CI) =0.57-0.94, P = 0.013) in northern Chinese men. In addition, subjects with CX (CC+TC) genotypes had a decreased risk for prostrate cancer compared to those carrying the TT homozygote (OR =0.64, 95% CI = 0.45- 0.90, P = 0.008). The TT genotype of 13q22 (rs9600079, T) was associated with tumor stage (P=0.044, OR=2.34, 95% CI=0.94-5.87). Other SNPs were not significantly associated with clinical covariates in prostate cancer (P > 0.05). Conclusions. rs339331 in the RFX6 gene may be associated with prostate cancer as a susceptibility locus in northern Chinese men.