• Title/Summary/Keyword: genetic risk factor

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The -765G>C Polymorphism in the Cyclooxygenase-2 Gene and Digestive System Cancer: a Meta-analysis

  • Zhao, Fen;Cao, Yue;Zhu, Hong;Huang, Min;Yi, Cheng;Huang, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.19
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    • pp.8301-8310
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    • 2014
  • Background: Published data regarding associations between the -765G>C polymorphism in cyclooxygenase-2 (COX-2) gene and digestive system cancer risk have been inconclusive. The aim of this study was to comprehensively evaluate the genetic risk of the -765G>C polymorphism in the COX-2 gene for digestive system cancer. Materials and Methods: A search was performed in Pubmed, Medline (Ovid), Embase, CNKI, Weipu, Wanfang and CBM databases, covering all studies until Feb 10, 2014. Statistical analysis was performed using Revman5.2. Results: A total of 10,814 cases and 16,174 controls in 38 case-control studies were included in this meta-analysis. The results indicated that C allele carriers (GC+CC) had a 20% increased risk of digestive system cancer when compared with the homozygote GG (odds ratio (OR)=1.20, 95% confidence interval (CI), 1.00-1.44 for GC+CC vs GG). In the subgroup analysis by ethnicity, significant elevated risks were associated with C allele carriers (GC+CC) in Asians (OR = 1.46, 95% CI=1.07-2.01, and p=0.02) and Africans (OR=2.12, 95% CI=1.57-2.87, and p< 0.00001), but not among Caucasians, Americans and mixed groups. For subgroup analysis by cancer type (GC+CC vs GG), significant associations were found between the -765G>C polymorphism and higher risk for gastric cancer (OR=1.64, 95% CI=1.03-2.61, and p=0.04), but not for colorectal cancer, oral cancer, esophageal cancer, and others. Regarding study design (GC+CC vs GG), no significant associations were found in then population-based case-control (PCC), hospital-based case-control (HCC) and family-based case-control (FCC) studies. Conclusions: This meta-analysis suggested that the -765G>C polymorphism of the COX-2 gene is a potential risk factor for digestive system cancer in Asians and Africans and gastric cancer overall.

Polymorphisms of 5,10-Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C) Gene in Recurrent Spontaneous Abortion (5,10-Methylenetetrahydrofolate Reductase (MTHFR C677T와 A1298C) 유전자 돌연변이의 반복자연유산 관련성 연구)

  • Kim, Nam-Keun;Nam, Yoon-Sung;Lee, Su-Man;Kim, Sun-Hee;Shin, Seung-Joo;Chang, Sung-Woon;Kim, Se-Hyun;Cha, Kwang-Yul;Oh, Do-Yeun
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.3
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    • pp.215-222
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    • 2002
  • Objective : Previous studies have suggested that hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR C677T) mutations are associated with increased risk of recurrent spontaneous abortion (RSA). Recently, a second site polymorphism in MTHFR, 1298A-->C, which changes a glutamic acid into an alanine residue, was shown to be associated with a decreased enzyme activity. We tested whether the variant alleles of MTHFR C677T and A1298C are risk factor (biomarker) for RSA. Materials and Methods: We analyzed DNA from a case-control study in the Korean DNA was extracted from blood samples of 118 patients with RSA and 123 healthy fertile patients as the controls. MTHFR variant alleles were determined by a PCR-restriction fragment length polymorphism assay. Results: We found no evidence for an association between 677TT genotype and risk of RSA (OR=1.95, 95% CI=$0.84{\sim}4.50$, p=0.12). However, the MTHFR 1298AC (OR=0.36, 95% CI=$0.20{\sim}0.63$, p=0.0004) and 1298AC+CC (OR=0.35, 95% CI=$0.20{\sim}0.61$, p=0.0002) genotypes were lower among 118 RSA cases compared with 123 controls, conferring a 2.8-fold decrease in risk of RSA, respectively. Moreover, the combined genotypes of MTHFR 677CC/1298AC (OR=0.30, 95% CI=$0.10{\sim}0.88$, p=0.029) and 677CT/1298AC (OR=0.77, 95% CI=$0.60{\sim}0.99$, p=0.043) also showed significantly lower risk than those with MTHFR 677CC/1298AA type. Conclusion: MTHFR 1298AC, MTHFR 677CC/1298AC and 677CT/1298AC genotypes may represent genetic markers for the protection of RSA at least in Korean women.

The 765G>C Polymorphism in the Cyclooxygenase-2 Gene and Gastric Cancer Risk: an Update by Meta-analysis

  • Zhao, Fen;Zhu, Hong;Huang, Min;Yi, Cheng;Huang, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.6
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    • pp.2863-2868
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    • 2014
  • Background: The 765G>C polymorphism in cyclooxygenase-2 (COX-2) gene has been extensively investigated for association with gastric cancer (GC). However, the results of different studies have been inconsistent. The aim of this study is to comprehensively evaluate the genetic risk of -765G>C polymorphism in the COX-2 gene for GC. Materials and Methods: We searched Pubmed, Embase, Medline, CNKI database, Wanfang database, Weipu database, and Chinese Biomedical database, covering all publications (last search been performed on Jan 10, 2014). Statistical analyses were performed using Revman 5.2 and STATA 10.0 software. Results: A total of 1,874 cases and 3,005 controls in 10 case-control studies were included in this meta-analysis. The results indicated that the variant C allele carriers (GC+CC) had a 69% increased risk of GC when compared with the homozygote GG (odds ratio (OR)=1.69, 95% confidence interval (CI), 1.10-2.61 for GC+CC vs GG). In the subgroup analysis by ethnicity, significant elevated risks were associated with C allele carriers in Asians (OR=1.75, 95%CI=1.40-2.18, and p<0.00001) and in Indians (OR=8.38, 95%CI=4.34-16.16, and p<0.00001) but not in Caucasians (OR=1.07, 95%CI=0.81-1.42, and p=0.62) or in Dutch (OR=0.53, 95%CI= 0.33-0.87, and p= 0.01).In the subgroup analysis by Helicobacter pylori (H. pylori) status, a significantly increased risk was identified among H. pylori (+) (OR=3.58, 95%CI=2.33-3.50, and p<0.00001) and H. pylori (-) (OR=2.32, 95%CI=1.46-3.69, and p=0.0004). Conclusions: This meta-analysis suggested that the -765G>C polymorphism in the COX-2 gene could be a risk factor for GC in Asians and Indians.

Catch up growth in children born small for gestational age by corrected growth curve (부당 경량아로 출생한 소아들에서 교정성장곡선을 이용한 따라잡기 성장에 대한 연구)

  • Jung, Myung Ki;Song, Ji Eun;Yang, Seung;Hwang, Il Tae;Lee, Hae Ran
    • Clinical and Experimental Pediatrics
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    • v.52 no.9
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    • pp.984-990
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    • 2009
  • Purpose : Being small for gestational age (SGA) is a risk factor of short stature in children. Genetic background such as mid-parental height (MPH) is known to influence growth of children born SGA. We studied the relationship between growth of children born SGA and MPH and studied the effects of insulin-like growth factor (IGF-I) and insulin-like growth factor binding protein 3 (IGFBP-3) on postnatal growth in children born SGA according to MPH. Methods : Forty-nine neonates born SGA were included in this study. We defined corrected height standard deviation score (cHtSDS) by modified height SDS (HtSDS) based on their MPH. We categorized subjects into group 1 consisting of children with cHtSDS ${\geq}0$ (n=35) and group 2 consisting of children with cHtSDS <0 (n=14), and compared IGF-I and IGFBP-3 between the two groups. Results : The HtSDSs and cHtSDSs in groups 1 and 2 were $0.06{\pm}1.05$ vs. $-0.95{\pm}0.85$ (P=0.000) and $0.78{\pm}0.93$ vs. $-0.46{\pm}0.67$ (P=0.000), respectively. IGF-I SDS was higher in group 1 than in group 2 ($2.82{\pm}3.69$ vs. $0.23{\pm}2.42$, P=0.012). Total cHtSDS ($0.42{\pm}1.03$) was significantly higher than HtSDS ($-0.22{\pm}1.10$) (P=0.000). Conclusion : Our results show that cHtSDS differs significantly from HtSDS. Growth assessment by standardized growth curve does not uniformly show effects of genetic factors. A more accurate assessment of growth uses a personalized corrected growth curve that considers the genetic factor measured by MPH.

The Case-Control Studies Between The Single Nucleotide Polymorphisms of the Human SA and MTHFR Gene and Hypertension in Korean Population

  • Kang, Byung-Yong;Bae, Joon-Seol;Kim, Ki-Tae;Lee, Kang-Oh;Kang, Chin-Yang;Chung, Ki-Wa;Oh, Sang-Duk
    • Environmental Mutagens and Carcinogens
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    • v.22 no.3
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    • pp.157-163
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    • 2002
  • The role of the kidney in initiating hypertension has been much debated. The SA gene is expressed in the kidney and is association with hypertension in man and in experimental animal models. Also, increased plasma concentrations of homocysteine have been found in patients with coronary artery disease (CAD) and hypertension. The genetic variation of methlene tetrahydrofolate reductase (MTHFR) gene is related to its enzyme activity and to the plasma homocysteine concentration. In view of the effect of SA and MTHFR as risk factor for cardiovascular diseases, we investigated the Pst I RFLP of the SA gene and C667T mutation of the MTHFR gene in the Korean patients with hypertension. There were no significant differences in the allele and genotype frequencies of these polymorphisms between normotensive and hypertensive subjects. Therefore, our results do not support a possible role of these genes on hypertension in Korean population.

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Lack of Assocation of Glutathione S-transferase T1 Gene Null and Susceptibility to Lung Cancer in China: a Meta-analysis

  • Liu, Hong-Zhou;Peng, Jie;Zheng, Fang;Wang, Chun-Hong;Han, Ming-Jun
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.12
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    • pp.7215-7219
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    • 2013
  • Background: Variation in metabolic genes is regarded as an important factor in processes leading to cancer. However, the effect of GSTT1 null genotype is divergent in the form of lung cancer. Methods: Studies were conducted at different research databases from 1990 to 2013 and the total odds ratio (OR) and 95% confidence interval (CI) were calculated for lung cancer. Review Manager 5.2 and STATE 12 are employed. Results: Total OR value is calculated from 17 articles with 2,118 cases and 2,915 controls. We discovered no significant increase in lung cancer risk among subjects carrying GSTT1 null genotype [OR = 1.15; 95% CI 0.97-1.36] in this meta-analysis. Conclusion: The GSTT1 deletion polymorphism does not have a significant effect on the susceptibility to lung cancer overall in China.

A Study on the Distributions of Paraoxonase Activity and the Factors affecting Paraoxonase Activity of a Rural Population (일부 농촌주민 혈중 Paraoxonase 활성도의 분포 및 관련인자에 관한 조사연구)

  • Song, Jae-Cheol;Park, Hung-Bae
    • Journal of Preventive Medicine and Public Health
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    • v.23 no.2 s.30
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    • pp.194-200
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    • 1990
  • The paraoxonase (E. C. 3.1.1.2) is a major enzyme to detoxicate the organophosphorus and carbamate which are the most widely used as the agricultural spraying insecticides. To investgate the distributions of plasma paraoxonase activity and the factors affecting the enzyme activity, the plasmas of 945 Korean rural population were analysed with the modified Krisch's direct sphectrphotometry method. Three indices of the enzyme activity - basal activity, stimulated activity (by NaCl), % stimulation - were obtained from the analysis. Three indicies suggested unimodal distributions, so we couldn't identify the low activity group risk group to organophosphorus & carbamate insecticides poisoning. There is no significant relation between 3 actvity indicies and sex, age, or history of insecticide use (p>0.05). The basal activity and the stimulated activity have significant relationship and high coefficient of determination with the activities of their parents ($r^2$=0.30, 0.24 ; p<0.05), but the % stimulation does not ($r^2$=0.02 ; p<0.05). These results suggest that the activity of paraoxonase is determined mainly by the genetic factor.

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Lack of Association Between Helicobacter pylori Infection and Oral Lichen Planus

  • Pourshahidi, Sara;Fakhri, Farnaz;Ebrahimi, Hooman;Fakhraei, Bahareh;Alipour, Abbas;Ghapanchi, Janan;Farjadian, Shirin
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.5
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    • pp.1745-1747
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    • 2012
  • Oral lichen planus is a premalignant chronic inflammatory mucosal disorder with unknown etiology. It is a multifactorial disease and in addition to genetic background, infections, stress, drug reactions are suggested as risk factors. Helicobacter pylori which is involved in development of many gastrointestinal lesions may also be implicated in oral lichen planus induction. This is of clear importance for cancer prevention and the present study was performed to determine any association between H. pylori infection and oral lichen planus in southwestern Iran. Anti H. pylori IgG levels were determined in 41 patients and 82 sex-age matched controls. The results showed no association between H. pylori infection and oral lichen planus (51% in patients vs. 66% in control). or any of its clinical presentations.

The Clinical Observation on 1 Case of Alopecia Areata Following Whiplash Injury (편타성 손상 후 발생한 원형탈모증 임상치험 1례)

  • Hwang, Jong-soon;Lee, A-ram;Lim, Dae-jung;Cho, Hyun-seok;Kim, Kyung-ho;Kim, Gab-sung
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.17 no.3
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    • pp.138-145
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    • 2004
  • The clinical features and therapeutic results of alopecia areata are variable and unpredictable. For example, genetic, psychic, immunologic factors are regarded as the reason of alopecia areata. For the relationship between alopecia and whiplash injury, Dr. Guun explained that whiplash injury by the traffic accident produces cervical muscle spasm, and it makes autonomic nerve change. The tropical changes accompanied with ischemic change of scalp vessels made by this mechanism cause alopecia areata. And Yesudian reported the case of scalp alopecia as the result of ischemic change following traffic accident. We have experienced a 25-year-old woman with Alopecia areata following whiplash injury by traffic accident, and who had no risk factor of it. The patient was treated by acupuncture and physical treatment. Her hair loss, cervical angle and pain were improved through acupuncture treatment. This case of alopecia areata following whiplash injury is uncommon, so we report the mechanism of it, but should collect more cases and observations.

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Promoter Methylation Status of DNA Repair Gene (hMLH1) in Gastric Carcinoma Patients of the Kashmir Valley

  • Wani, Majid;Afroze, Dil;Makhdoomi, Muzamil;Hamid, Iqra;Wani, Bilal;Bhat, Gulzar;Wani, Rauf;Wani, Khursheed
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.8
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    • pp.4177-4181
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    • 2012
  • Cancer is a multi-factorial disease and variation in genetic susceptibility, due to inherited differences in the capacity to repair mismatches in the genome, is an important factor in the development of gastric cancer (GC), for example. Epigenetic changes, including aberrant methylation of 5/CpG islands in the promoter regions of mismatch repair (MMR) genes like hMLH1, have been implicated in the development of various types of GC. In the present study we evaluated the role of hMLH1 promoter hypermethylation in Kashmiri GC patients and controls, and assessed correlations with various dietary and lifestyle factors. The study included 70 GC patients (56 males and 14 females; age ($mean{\pm}S.D$) $50{\pm}11.4$ years). Distinction between methylated and unmethylated was achieved with MS-PCR and DNA band patterns. The Chi-square test was applied to assess the risk due to promoter hypermethylation. We found a strikingly high frequency of promoter hypermethylation in GC cases than in normal samples (72.9% (51/70) in GC cases vs 20% (14/70) in normal samples (p=0.0001).We also observed a statistically significant association between methylated hMLH1 gene promoter and smoking, consumption of sundried vegetables and hot salted tea with the risk of GC. This study revealed that hMLH1 hypermethylation is strongly associated with GC and suggested roles for epigenetic changes in stomach cancer causation in the Kashmir valley.