• Title/Summary/Keyword: ethnic populations

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Association of Genetic Variants in ARID5B, IKZF1 and CEBPE with Risk of Childhood de novo B-Lineage Acute Lymphoblastic Leukemia in India

  • Bhandari, Prerana;Ahmad, Firoz;Mandava, Swarna;Das, Bibhu Ranjan
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.3989-3995
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    • 2016
  • Background: Childhood acute lymphoblastic leukemia (ALL) is a heterogeneous genetic disease and its etiology remains poorly understood. Recent genome wide association and replication studies have highlighted specific polymorphisms contributing to childhood ALL predispositions mostly in European populations. It is unclear if these observations generalize to other populations with a lower incidence of ALL. The current case-control study evaluated variants in ARID5B (rs7089424, rs10821936), IKZF1 (rs4132601) and CEBPE (rs2239633) genes, which appear most significantly associated with risk of developing childhood B-lineage ALL. Materials and Methods: Using TaqMan assays, genotyping was conducted for 162 de novo B-lineage ALL cases and 150 unrelated healthy controls in India. Appropriate statistical methods were applied. Results: Genotypic and allelic frequencies differed significantly between cases and controls at IKZF1-rs4132601 (p=0.039, p=0.015) and ARID5B-rs10821936 (p=0.028, p=0.026). Both rs10821936 (p=0.019; OR 0.67; 95% CI=0.47-0.94) and rs4132601 (p=0.018; OR 0.67; 95%CI 0.48-0.94) were associated with reduced disease risk. Moreover, gender-analysis revealed male-specific risk associations for rs10821936 (p=0.041 CT+CC) and rs4132601 (p=0.005 G allele). Further, ARID5B-rs7089424 and CEBPE-rs2239633 showed a trend towards decreased disease risk but without significance (p=0.073; p=0.73). Conclusions: Our findings provide the first evidence that SNPs ARID5B-rs10821936 and IKZF1-rs4132601 are associated with decreased B-lineage ALL susceptibility in Indian children. Understanding the effects of these variants in different ethnic groups is crucial as they may confer different risk of ALL within different populations.

DNA Repair Gene Polymorphisms at XRCC1, XRCC3, XPD, and OGG1 Loci in the Hyderabad Population of India

  • Parine, Narasimha Reddy;Pathan, Akbar Ali Khan;Bobbarala, Varaprasad;Abduljaleel, Zainularifeen;Khan, Wajahatullah;Alanazi, Mohammed
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6469-6474
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    • 2012
  • Background: DNA repair is one of the crucial defense mechanism against mutagenic exposure. Inherited SNPs of DNA repair genes may contribute to variation in DNA repair capacity and susceptibility to cancer. Due to the presence of these variants, inter-individual and ethnic differences in DNA repair capacity have been established in various populations. India harbors enormous genetic and cultural diversity. Materials and Methods: In the present study we aimed to determine the genotypes and allele frequencies of XRCC1 Arg399Gln (rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and OGG1 Ser326Cys (rs1052133) gene polymorphisms in 186 healthy individuals residing in the Hyderabad region of India and to compare them with HapMap and other populations. Results and Conclusions: The genotype and allele frequency distribution at the four DNA repair gene loci among Hyderabad population of India revealed a characteristic pattern. Comparison of these gene polymorphisms with other populations revealed a distinctiveness of Hyderabad population from the Deccan region of India. To the best of our knowledge, this is the first report of such DNA repair gene polymorphisms in the Deccan Indian population.

Ethnic Differences in Allelic Frequencies of Two (CA)n Microsatellite Markers Located on Chromosome 5q

  • Hong, Sung-Soo;Chae, Jae-Jin;Goh, Sung-Ho;Yong, Koong-Nam;Lee, Chung-Choo
    • Animal cells and systems
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    • v.1 no.1
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    • pp.123-128
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    • 1997
  • The characteristics of allelic polymorphisms of the two (CA)n microsatellite (p599 and ㅅ599) markers spanning the long arm of chromosome 5 were studied in 52 DNA samples from unrelated inhabitants of Seoul (Korea) by using the polymerase chain reaction (PCR) to investigate differences in allele frequencies between Korean and Caucasian populations. The 6 alleles were observed for p599 (CA)n with a polymorphism informative content (PIC) value of 0.71 and 9 alleles for ㅅ599 (CA)n with a PIC value of 0.82. The observed heterozygote frequencies of the loci were estimated to 0.730 and 0.846, respectively. Several allele frequencies of two loci showed significant differences between Korean and Caucasian populations. Genotype data from the two loci were consistent with the Hardy-Weinberg equilibrium by x2 test. Linkage disequilibrium between p599 (CA)n and ㅅ599 (CA)n loci was observed in x2 test between the observed and expected frequency of allelic association. The probability of matching calculated at each locus was 0.104 for p599 (CA)n and 0.043 for ㅅ599 (CA)n, respectively. These results demonstrate the need to determine populationspecific allele frequency distributions for polymorphic markers when performing genetic linkage studies in racially defined several populations.

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DNA Polymorphisms of the Human CYP11B2 and ${\gamma}$ Subunit of ENaC Genes in Korean Hypertensives

  • Kang, Byung-Yong;Bae, Joon-Seol;Kim, Ki-Tae;Lee, Kang-Oh
    • Environmental Mutagens and Carcinogens
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    • v.22 no.4
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    • pp.223-228
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    • 2002
  • Hypertension is characterized by multiple genetic and environmental factors. To establish the genetic basis of hypertension in Koreans, we investigated the genetic variations of two candidate genes (aldosterone synthase (CYP11B2), ${\gamma}$ subunit of the amiloride-sensitive epithelial sodium channel (ENaC) in the Korean patients with hypertension and normotensive controls. There were no significant differences in the genotype and allele frequencies between two groups, respectively. However, there was the significant difference between Korean and Caucasian populations in allele frequency of RFLPs in the two candidate genes. Therefore, these studies also need to be confirmed in other ethnic groups, although our results do not support a possible role of these genes on hypertension in Korean population

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AluI RFLP Analysis of the Calcitonin Receptor Gene in the Korean Athletic Men (한국인 남성 운동 선수군에서 Calcitonin Receptor 유전자의 AluI RFLP 분석)

  • 장대호;황영철;강병용;최성숙;강진양;하남주
    • YAKHAK HOEJI
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    • v.48 no.1
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    • pp.75-81
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    • 2004
  • Bone mineral density (BMD) is influenced by genetic and environmental factors. Among genetic study; calcitonin receptor (CTR) gene is a good candidate influencing the inter-individual difference in BMD because CTR is involved in calcium and bone metabolism. Thus, we investigated the distribution of C1377T polymorphism in the CTR gene among male Korean elite athletic and control groups, respectively and also an association with BMD in lumbar spine and femoral neck. Our results suggested that this polymorphism of CTR gene was not significantly associated with lumbar spine or femoral neck BMDs in the both groups, respectively. However, we found that there was the racial difference in genotype distribution of this polymorphism between Caucasian and Asian populations. Though we could not detect the significant association between C1377T polymorphism of CTR gene and lumbar spine or femoral neck BMDs, further studies using other ethnic groups are necessary to clarify the precise role in BMD of CTR gene.

Murine Models of Ulcerative Colitis

  • Flynn, Christopher;Levine, Joel;Rosenberg, Daniel-W.
    • Archives of Pharmacal Research
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    • v.26 no.6
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    • pp.433-440
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    • 2003
  • Ulcerative colitis (UC) is an inflammatory bowel disease of unknown etiology limited to the large intestine. The disease is prevalent in industrial societies and is associated with specific ethnic populations. A number of murine models, each focused on distinct aspects of the disease process, were developed over the past 20 years to further our understanding of the pathogenesis of UC. These models have been and remain our best resource for the study of the disorder as a result of their homology to human UC and the ease in which they can be manipulated and examined. This review examines and distills what has been learned from these models and how this information is related back to human UC.

Frequency of Cholelithiasis and Biliary Pathology in the Easter Island Rapanui and Non-Rapanui Populations

  • Bravo, Eduardo;Contardo, Jorge;Cea, Jerson
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.1485-1488
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    • 2016
  • Background: Chile is one of the countries with the highest prevalence of cholelithiasis worldwide, considering the Mapuche ethnicity as a risk factor for developing this pathology. Moreover, cholelithiasis is the main risk factor for developing gallbladder cancer, being the fifth cause of cancer death in Chile. The purpose of this study was to compare the frequency of cholelithiasis and biliary pathology among the population belonging to Rapanui ethnicity and non-Rapanui population living on Easter Island. Materials and Methods: In this retrospective case-control study, a total of 609 abdominal ultrasonographs performed consecutively in Hanga Roa Hospital during the period August 2012 to January 2015 were analyzed. Multiple logistic regression was used to obtain odds ratio (OR) and 95% confidence intervals (95% CI) of cholelithiasis and biliary pathology, adjusting for age, gender and referral diagnostic hypothesis. Results: In the Rapanui population the frequency for cholelithiasis and biliary pathology was 6.4% and 13%, meanwhile for the non-Rapanui population it was 13% and 22% respectively. Compared to the non-Rapanui Chilean population, the Rapanui ethnicity presented an OR of 0.53 (95% CI: 0.29-0.95) for cholelithiasis and OR of 0.52 (95% CI: 0.33-0.82) for biliary pathology. Conclusions: We found statistically significant ethnic differences in the frequency of cholelithiasis and biliary disease among the population of Rapanui and non-Rapanui ethnicity, so that this could be a protective factor for the development of biliary pathology, given the Chilean population context. Other studies including community population to determine the real prevalence of cholelithiasis and analyze the protective role of Rapanui ethnicity on this disease are necessary.

Understanding the Language Learner from the Imagined Communities Perspective: The Case of Korean Language Learners in the U.S. (상상공동체 관점을 통한 한국어 학습자 동기 이해)

  • Lee, Siwon;Cho, Haewon
    • Journal of Korean language education
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    • v.28 no.4
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    • pp.367-402
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    • 2017
  • The current study seeks to understand the multi-faceted desires of language learners through the theoretical lens of imagined communities (Norton, 2001). Particularly, the study focuses on the learners of Korean language-one of the less commonly taught languages in the U.S. that has received relatively less attention in previous literature on second language motivation. The study analyzed and compared the narratives told by eleven Korean language learners in a post-secondary language program, and identified four types of imagined communities: Communities of K-pop Culture, Communities of Professionals, Communities of Korean Family and Relatives, and Communities of ethnic Koreans. The study found that these imagined communities were not restricted to a specific region or an ethnic group but encompassed various populations connected through the use of Korean language. The study also found variability within what has been readily labelled as heritage motivation (or motivation related to heritage), as well as striking differences between heritage language learners and non-heritage language learners in terms of their scope of imagination.

Genetic Polymorphism of GSTM1 and GSTT1 and Risk of Prostatic Carcinoma - a Meta-analysis of 7,281 Prostate Cancer Cases and 9,082 Healthy Controls

  • Malik, Saima Shakil;Kazmi, Zehra;Fatima, Iffat;Shabbir, Riffat;Perveen, Shagufta;Masood, Nosheen
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.5
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    • pp.2629-2635
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    • 2016
  • Genetic polymorphisms constitute one of the reasons behind the racial variation in prostate cancer occurrence. Published studies regarding genetic associations of glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) null deletion polymorphisms with prostatic carcinoma have generated inconsistent results among different populations. To date, even a single meta-analysis is not available representing the association of these genes with prostate cancer in different ethnic groups. Therefore, the aim of the current study was to provide a clear picture of GSTM1 and GSTT1 null deletion and risk of prostate cancer among different ethnic groups (i.e. Asians, Europeans, Americans, Africans and Eurasians). A systematic search was performed with the help of various search engines to find out the all the recent studies (2004 to 2015) evaluating the role of GSTM1 and GSTT1 deletion in prostate cancer development. Odds ratios (ORs) with 95% confidence interval (CI) of a total of 34 studies with 7,281 cases and 9,082 controls was analyzed using STATA and MedCalc software. Overall, GSTM1 deletion (OR 3.67; CI 1.39-9.85; P= 0.001) was strongly associated with prostatic cancer. In the sub group analysis GSTM1 null deletion was also significantly associated with prostate cancer among Asians (OR 4.84; CI 1.08-21.5; P= 0.03), Eurasians (OR 17.69; CI 9.87-31.70; P< 0.001) and Americans (OR 0.11; CI 0.01-1.06; P= 0.05). No association was observed among Europeans (P=0.42) and Africans (P= 0.40). As a whole GSTT1 null deletion (OR 0.85; CI 0.28-2.58; P= 0.77) did not show anyt significant association with prostate cancer risk among different populations. When the data were stratified into different groups, however, Africans demonstrated a significant association of GSTT1 null deletion (OR 1.95; CI 1.57-2.39; P<0.001) with prostate cancer, whereas no association was found among Asians (P= 0.90), Americans (P= 0.50), Europeans (P= 0.89) and Eurasians (P= 1.0). In conclusion, both GSTM1 and GSTT1 may contribute to prostate cancer development but GSTM1 may prove to be a stronger candidate risk factor.

Comparison of Pap Smear Screening Results between Akha Hill Tribe and Urban Women in Chiang Rai Province, Thailand

  • Kritpetcharat, Onanong;Wutichouy, Wiwat;Sirijaichingkul, Suchat;Kritpetcharat, Panutas
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5501-5504
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    • 2012
  • Cervical cancer is an important woman's health problems worldwide, especially in low socio-economic countries. The aim of this study was to compare the Pap smear screening results between Akha hill tribe and urban women who live in Chiang Rai province, Thailand. Screening was conducted for 1,100 Akha women and 1,100 urban women who came to have the Pap smear at Chiangrai Prachanukroh Hospital and 1 private cytology laboratory from January to June 2008. The demographic characteristics and factors related to abnormal Pap smears of these women were gathered using closed model questionnaires. Abnormal Pap smears were defined according to the Bethesda 2001 system. The results showed that the prevalence of abnormal Pap smears was 12.2% in Akha women and 4.5% in urban women. The highest prevalence of Pap abnormalities was found in the 41-50 years age group in both populations (4.5% in Akha and 1.7% in urban women). In both populations, abnormal Pap smears were found in <21 years age groups. From the questionnaires, the possible risk factors related to the higher prevalence of abnormal Pap smears in Akha women were early age at marriage (${\leq}17$ years), high frequency pregnacies and high parity and no/low education level. In conclusion, cervical cancer control by education and early detection by Pap smear screening is necessary for hill tribe women. More Pap smear screening service units should be set to improve the coverage for the risk group women who got married in young age, especial in ethnic groups.