• Journal of Preventive Medicine and Public Health
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• v.55 no.1
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• pp.68-79
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• 2022

Objectives: This study investigated associations between ethnicity and malaria awareness in East Nusa Tenggara Province (ENTP), Indonesia. Methods: A community-based cross-sectional study was conducted upon 1503 adults recruited by multi-stage cluster random sampling. A malaria awareness questionnaire was used to collect data, according to which participants were classified as aware or unaware of malaria. Logistic regression was applied to quantify the strength of associations of factors with malaria awareness. Results: The participation rate in this study was high (99.5%). The participants were distributed relatively evenly among the Manggarai, Atoni, and Sumba ethnicities (33.0, 32.3, and 30.2%, respectively). Malaria awareness was significantly different amongst these groups; it was most common in the Manggarai ethnicity (65.1%; 95% confidence interval [CI], 59.9 to 70.3) and least common in the Sumba ethnicity (35.0%; 95% CI, 27.6 to 42.4). The most prominent factor influencing the malaria awareness in the Sumba and Manggarai ethnicities was education level, whilst it was socioeconomic status (SES) in the Atoni ethnicity. The likelihood of malaria awareness was significantly higher in adults with an education level of diploma or above (adjusted odds ratio [aOR], 21.4; 95% CI, 3.59 to 127.7 for Manggarai; aOR, 6.94; 95% CI, 1.81 to 26.6 for Sumba). Malaria awareness was significantly more common amongst high-SES adults in the Atoni group (aOR, 24.48; 95% CI, 8.79 to 68.21). Conclusions: Low education levels and low SES were prominent contributors to lower levels of malaria awareness in rural ENTP. Interventions should focus on improving malaria awareness to these groups to support the Indonesian government's national commitment to achieve a malaria elimination zone by 2030.

• Journal of Preventive Medicine and Public Health
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• v.57 no.3
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• pp.269-278
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• 2024

Objectives: The Chepang people, an indigenous ethnic group in Nepal, experience substantial marginalization and socioeconomic disadvantages, making their communities among the most vulnerable in the region. This study aimed to determine the prevalence and factors associated with adolescent pregnancy in the Chepang communities of Raksirang Rural Municipality, Makwanpur District, Bagmati Province, Nepal. Methods: A cross-sectional study was conducted from October 2022 to April 2023 among 231 Chepang women selected using simple random sampling from Raksirang Rural Municipality. A semi-structured questionnaire was used for interviewing the mothers. Bivariate and multivariate logistic regression analyses were performed, using odds ratios with 95% confidence intervals (CIs). Variables with a variation inflation factor of more than 2 and a p-value of more than 0.25 were excluded from the final model. Results: The study revealed that the prevalence rate of adolescent pregnancy among Chepang women was 71.4% (95% CI, 65.14 to 77.16). A large percentage of participants (72.7%) were married before the age of 18 years. Poor knowledge of adolescent pregnancy (adjusted odds ratio [aOR], 10.3; 95% CI, 8.42 to 14.87), unplanned pregnancy (aOR, 13.3; 95% CI, 10.76 to 19.2), and lack of sex education (aOR, 6.57; 95% CI, 3.85 to 11.27) were significantly associated with adolescent pregnancy. Conclusions: The prevalence of adolescent pregnancy among the Chepang community was high. These findings highlighted the importance of raising awareness about the potential consequences of adolescent pregnancy and implementing comprehensive sexuality education programs for preventing adolescent pregnancies within this community.

• Environmental Mutagens and Carcinogens
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• v.23 no.1
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• pp.7-10
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• 2003

Hypertension is characterized by multiple genetic and environmental factors. To establish the genetic basis of hypertension in Koreans, we investigated the genetic variations of dopamine D3 receptor (DRD3) gene in the Korean patients with hypertension and normotensive controls. There were no significant differences in the genotype and allele frequencies of Bal I RFLP in the DRD3 gene between two groups, respectively (P > 0.05). Our finding shows lack of association between a genetic marker of DRD3 gene and hypertension, suggesting that the genetic variation of DRD3 gene does not playa major role in the determination of hypertension in Korean population. Further studies in other ethnic groups will be required.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.46-51
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• 2023

Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.9
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• pp.4469-4475
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• 2016

Indonesia is a developing country, in most of which the infection rates of Helicobacter pylori (H. pylori) have been reported to be high. However, the prevalence of H. pylori infection in Indonesia has been unexpectedly reported to be low. The purpose of our study was to confirm whether the prevalence of H. pylori infection is low among healthy inhabitants in Northern Jakarta by 13C-urea breath test (UBT), and to examine the association of their lifestyle/environmental factors with H. pylori infection and to identify potential routes of transmission. We recruited a total of 196 subjects from a low-income community in Northern Jakarta, Indonesia. Of them, 193 subjects who completed a questionnaire about their lifestyle/environment and had UBT were included in this study. Odds ratios (ORs) adjusted for sex and age with 95% confidence intervals (CIs) were calculated using logistic regression model. The overall H. pylori infection rate was 15.0%. There was difference in H. pylori infection rates among Buginese (40.0%), Betawi (9.1%), Sundanese (3.7%), and Batak (9.1%). After multivariate analysis, the ORs of intake of soybean milk, cucumber more than one time a week, infrequent hand washing before meals, and alcohol consumption were 0.10 (95%CI: 0.01-0.97), 6.61 (95%CI: 1.87-23.3), 4.10 (95%CI: 1.15-14.6), and 61.9 for former drinkers (95%CI: 1.67-2300.8), respectively. Buginese (OR=7.84; 95%CI: 1.82-33.8) and Batak ethnic groups (OR=20.1; 95%CI: 1.90-213.2) were infected more frequently, compared with Javanese. The H. pylori infection rate in this study was low, as reported previously. After we scrutinized the factors, Buginese and Batak ethnic groups eat food using fingers more frequently than Javanese, Betawi, and Sundanese. In addition, infrequent hand wash practice before meal increased the risk. Our study indicated that person-person transmission was possible in this low prevalence area. The low infection rates of H. pylori among those of Javanese, Betawi, and Sundanese ethnicity could be partly due to sanitary practice.

• Animal cells and systems
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• v.3 no.4
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• pp.393-397
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• 1999

Length variations in human mitochondrial DNA (mtDNA) offer useful markers in the study of female aspects of human population history. One such length variation is a 9-bp deletion in the small noncoding segment located between the COII and Iysine tRNA genes (COII/tRNA/$^{Lys}$ intergenic region) which usually contain two tandemly arranged copies of a 9-bp sequence (ccccctcta) in human mtDNA. The mtDNA 9-bp deletion and polymorphic variants of expanded 9-bp repeat motif in the intergenic COII/tRNA$^{Lys}$ region have been found at varying frequencies among different human ethnic groups. We have examined the length variation of the mtDNA COII/tRNA$^{Lys}$ intergenic region from a total of 813 individuals in east Asian populations. The occurrence of the 9-bp deletion was found to be relatively homogeneous in northeast Asian populations (Chinese, 14.2%; Japanese, 14.3%: Koreans, 15.5%), with the exception of Mongolians (5.1%). In contrast, Indonesians (25.0%) and Vietnamese (23.2%) of the southeast Asian populations appeared to have relatively high frequencies of the 9-bp deletion. We identified the existence of a new expanded 9-bp repeat motif which likely resulted from a slipped mispairing insertion of six more cytosines in the intergenic COII$^{Lys}$ region. It was present at low frequencies in the Korean (2/349) and Japanese populations (2/147). Based on the results of this study, the Korean population may reflect a close genetic affinity with the Japanese and Chinese populations than the others surveyed east Asian populations.

• 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.

• The Journal of Internal Korean Medicine
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• v.29 no.1
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• pp.32-41
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• 2008

Background : Monocyte chemoattractant protein-1(MCP-1), one of the CC chemokines, appears to play a significant role in asthma pathogenesis. It was reported that polymorphism in the MCP-1(-2518 A/G promoter) was associated with asthma in Caucasians, but the association of this polymorphism and asthma patients in the Korean population has not yet been clarified. Objective : We investigated the possible association between 2 polymorphisms (-2518 A/G promoter and Cys35Cys) and asthma patients in a Korean population. Materials and Methods : DNA samples were obtained from 86 Korean asthma patients and 270 healthy controls. MCP-1 genomic variants (-2518 A/G promoter and Cys35Cys polymorphism) were detected by PCR-RFLP. Level of MCP-1 was measured by ELISA for each genotype (n=8) (AA, AG, GG) and allele types of -2518 A/G promoter polymorphism for control subjects. Results : The Cys35Cys polymorphism was associated with asthma patients in Korean population [genotype distribution ($X^{2}=16.011$, P<0.001)]. Comparison of the two groups revealed no detectable differences in genotype and allele frequencies of the -2518 A/G polymorphism. Haplotype frequencies analysis revealed significant difference $(X^{2}=51.70$, P<0.001). MCP-1 serum level of subjects with G genotype of -2518 A/G promoter polymorphism was statistically higher than that with AA genotype (P<0.05). Conclusion : Our data indicate that no association exists between the MCP-1 -2518 A/G polymorphism and asthma susceptibility in the Korean population. However, it is noteworthy that the high prevalence of the -2518 G allele in the Korean population suggests a potentially important ethnic variation in the regulation of MCP-1 production. This variation must be considered in gene-association studies in different ethnic populations.

• Genomics & Informatics
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• v.10 no.2
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• pp.110-116
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• 2012

Recent several studies have shown that the genetic variation of SCN5A is related with atrioventricular conduction block (AVB); no study has yet been published in Koreans. Therefore, to determine the AVB-associated genetic variation in Korean patients, we investigated the genetic variation of SCN5A in Korean patients with AVB and compared with normal control subjects. We enrolled 113 patients with AVB and 80 normal controls with no cardiac symptoms. DNA was isolated from the peripheral blood, and all exons (exon 2-exon 28) except the untranslated region and exon-intron boundaries of the SCN5A gene were amplified by multiplex PCR and directly sequenced using an ABI PRISM 3100 Genetic Analyzer. When a variation was discovered in genomic DNA from AVB patients, we confirmed whether the same variation existed in the control genomic DNA. In the present study, a total of 7 genetic variations were detected in 113 AVB patients. Of the 7 variations, 5 (G87A-A29A, intervening sequence 9-3C>A, A1673G-H558R, G3578A-R1193Q, and T5457C-D1819D) have been reported in previous studies, and 2 (C48G-F16L and G3048A-T1016T) were novel variations that have not been reported. The 2 newly discovered variations were not found in the 80 normal controls. In addition, G298S, G514C, P1008S, G1406R, and D1595N, identified in other ethnic populations, were not detected in this study. We found 2 novel genetic variations in the SCN5A gene in Korean patients with AVB. However, further functional study might be needed.

• Genomics & Informatics
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• v.8 no.1
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• pp.19-27
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• 2010

To discover genetic markers for autism spectrum disorder (ASD), we previously applied genome-wide BAC array comparative genomic hybridization (array-CGH) to 28 autistic patients and 62 normal controls in Korean population, and identified that chromosomal losses on 8p23.1 and on 17p11.2 are significantly associated with autism. In this study, we developed an 8.5K ASD-specific BAC array covering 27 previously reported ASD-associated CNV loci including ours and examined whether the associations would be replicated in 8 ASD patient cell lines of four different ethnic groups and 10 Korean normal controls. As a result, a CNV-loss on 8p23.1 was found to be significantly more frequent in patients regardless of ethnicity (p<0.0001). This CNV region contains two coding genes, DEFA1 and DEFA3, which are members of DEFENSIN gene family. Two other CNVs on 17p11.2 and Xp22.31 were also distributed differently between ASDs and controls, but not significant (p=0.069 and 0.092, respectively). All the other loci did not show significant association. When these evidences are considered, the association between ASD and CNV of DEFENSIN gene seems worthy of further exploration to elucidate the pathogenesis of ASD. Validation studies with a larger sample size will be required to verify its biological implication.