• Title/Summary/Keyword: ethnic variation

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A Pilot Study Exploring Temporal Development of Gut Microbiome/Metabolome in Breastfed Neonates during the First Week of Life

  • Imad Awan;Emily Schultz;John D. Sterrett;Lamya'a M. Dawud;Lyanna R. Kessler;Deborah Schoch;Christopher A. Lowry;Lori Feldman-Winter;Sangita Phadtare
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.26 no.2
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    • pp.99-115
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    • 2023
  • Purpose: Exclusive breastfeeding promotes gut microbial compositions associated with lower rates of metabolic and autoimmune diseases. Its cessation is implicated in increased microbiome-metabolome discordance, suggesting a vulnerability to dietary changes. Formula supplementation is common within our low-income, ethnic-minority community. We studied exclusively breastfed (EBF) neonates' early microbiome-metabolome coupling in efforts to build foundational knowledge needed to target this inequality. Methods: Maternal surveys and stool samples from seven EBF neonates at first transitional stool (0-24 hours), discharge (30-48 hours), and at first appointment (days 3-5) were collected. Survey included demographics, feeding method, medications, medical history and tobacco and alcohol use. Stool samples were processed for 16S rRNA gene sequencing and lipid analysis by gas chromatography-mass spectrometry. Alpha and beta diversity analyses and Procrustes randomization for associations were carried out. Results: Firmicutes, Proteobacteria, Bacteroidetes and Actinobacteria were the most abundant taxa. Variation in microbiome composition was greater between individuals than within (p=0.001). Palmitic, oleic, stearic, and linoleic acids were the most abundant lipids. Variation in lipid composition was greater between individuals than within (p=0.040). Multivariate composition of the metabolome, but not microbiome, correlated with time (p=0.030). Total lipids, saturated lipids, and unsaturated lipids concentrations increased over time (p=0.012, p=0.008, p=0.023). Alpha diversity did not correlate with time (p=0.403). Microbiome composition was not associated with each samples' metabolome (p=0.450). Conclusion: Neonate gut microbiomes were unique to each neonate; respective metabolome profiles demonstrated generalizable temporal developments. The overall variability suggests potential interplay between influences including maternal breastmilk composition, amount consumed and living environment.

A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population

  • Ham, Seokjin;Roh, Tae-Young
    • Genomics & Informatics
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    • v.12 no.3
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    • pp.114-120
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    • 2014
  • Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation.

PCR-Based Polymorphic Analysis for the Y Chromosomal Loci DYS19 and DXYS5Y (47z) in the Korean Population

  • Shin, Dong-Jik;Kim, Yung-Jin;Kim, Wook
    • Animal cells and systems
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    • v.2 no.2
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    • pp.281-285
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    • 1998
  • We examined Y chromosomal DNA polymorphisms at the DYS19 and DXYS5Y loci in a total of 480 unrelated male samples from the Korean population. All five common alleles were identified at the tetranucleotide microsatellite locus DYS19 in this study. The C allele was the most frequent (212/480), followed by D (136/480), B (75/480), E (36/480) and A (21/480) allele. The frequency of Y2 allele at the DXYS5Y locus was found to be 4.6% (22/480). Combining the allelic variation at these two loci resulted in a total of 9 combination haplotypes. The mean combination haplotype diversity wIns 0.72. Based on the results of these two loci, Korean and Japanese populations may share some common genetic structure that is rare or absent in the other ethnic groups. The genetic similarity between Korean and Japanese populations may be due to the large infusion of Y chromosomes through the Yayoi migration starting 2,300 years ago from Korea to Japan.

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A Comparative Study Between Linear Regression and Support Vector Regression Model Based on Environmental Factors of a Smart Bee Farm

  • Rahman, A. B. M. Salman;Lee, MyeongBae;Venkatesan, Saravanakumar;Lim, JongHyun;Shin, ChangSun
    • Smart Media Journal
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    • v.11 no.5
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    • pp.38-47
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    • 2022
  • Honey is one of the most significant ingredients in conventional food production in different regions of the world. Honey is commonly used as an ingredient in ethnic food. Beekeeping is performed in various locations as part of the local food culture and an occupation related to pollinator production. It is important to conduct beekeeping so that it generates food culture and helps regulate the regional environment in an integrated manner in preserving and improving local food culture. This study analyzes different types of environmental factors of a smart bee farm. The major goal of this study is to determine the best prediction model between the linear regression model (LM) and the support vector regression model (SVR) based on the environmental factors of a smart bee farm. The performance of prediction models is measured by R2 value, root mean squared error (RMSE), and mean absolute error (MAE). From all analysis reports, the best prediction model is the support vector regression model (SVR) with a low coefficient of variation, and the R2 values for Farm inside temperature, bee box inside temperature, and Farm inside humidity are 0.97, 0.96, and 0.44.

8q24 rs4242382 Polymorphism is a Risk Factor for Prostate Cancer among Multi-Ethnic Populations: Evidence from Clinical Detection in China and a Meta-analysis

  • Zhao, Cheng-Xiao;Liu, Ming;Xu, Yong;Yang, Kuo;Wei, Dong;Shi, Xiao-Hong;Yang, Fan;Zhang, Yao-Guang;Wang, Xin;Liang, Si-Ying;Zhao, Fan;Zhang, Yu-Rong;Wang, Na-Na;Chen, Xin;Sun, Liang;Zhu, Xiao-Quan;Yuan, Hui-Ping;Zhu, Ling;Yang, Yi-Ge;Tang, Lei;Jiao, Hai-Yan;Huo, Zheng-Hao;Wang, Jian-Ye;Yang, Ze
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.19
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    • pp.8311-8317
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    • 2014
  • Background: Evidence supporting an association between the 8q24 rs4242382-A polymorphism and prostate cancer (PCa) risk has been reported in North American and Europe populations, though data from Asian populations remain limited. We therefore investigated this association by clinical detection in China, and meta-analysis in Asian, Caucasian and African-American populations. Materials and Methods: Blood samples and clinical information were collected from ethnically Chinese men from Northern China with histologically-confirmed PCa (n=335) and from age-matched normal controls (n=347). The 8q24 (rs4242382) gene polymorphism was genotyped by polymerase chain reaction-high-resolution melting analysis. We initially analyzed the associations between the risk allele and PCa and clinical covariates. A meta-analysis was then performed using genotyping data from a total of 1,793 PCa cases and 1,864 controls from our study and previously published studies in American and European populations, to determine the association between PCa and risk genotype. Results: The incidence of the risk allele was higher in PCa cases than controls (0.222 vs 0.140, $P=7.3{\times}10^{-5}$), suggesting that the 8q24 rs4242382-A polymorphism was associated with PCa risk in Chinese men. The genotypes in subjects were in accordance with a dominant genetic model (ORadj=2.03, 95%CI: 1.42-2.91, $Padj=1.1{\times}10^{-4}$). Presence of the risk allele rs4242382-A at 8q24 was also associated with clinical covariates including age at diagnosis ${\geq}65$ years, prostate specific antigen >10 ng/ml, Gleason score <8, tumor stage and aggressive PCa, compared with the non-risk genotype ($P=4.6{\times}10^{-5}-3.0{\times}10^{-2}$). Meta-analysis confirmed the association between 8q24 rs4242382-A polymorphism and PCa risk (OR=1.62, 95%CI: 1.39-1.88, $P=1.0{\times}10^{-5}$) across Asian, Caucasian and African American populations. Conclusions: The replicated data suggest that the 8q24 rs4242382-A variation might be associated with increased PCa susceptibility in Asian, Caucasian and African American populations. These results imply that this polymorphism may be a useful risk biomarker for PCa in multi-ethnic populations.

Clinicopathologic Profile of Breast Cancer Patients in Pakistan: Ten Years Data of a Local Cancer Hospital

  • Khokher, Samina;Qureshi, Muhammad Usman;Riaz, Masooma;Akhtar, Naseem;Saleem, Afaf
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.2
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    • pp.693-698
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    • 2012
  • Breast cancer is the most frequent cancer of women worldwide, with considerable geographic and racial/ethnic variation. Data are generally derived from population based cancer registries in the developed countries but hospital data are the most reliable source in the developing countries. Ten years data from 1st Jan 2000 to 31st Dec 2009 of a cancer hospital in Pakistan were here analyzed by descriptive statistics to evaluate the clinicopathologic profile of local breast cancer patients. Among 28,740 cancer patients, 6,718 were registered as breast cancer. The female to male ratio was 100:2. Breast cancer accounted for 23% of all and 41% of female cancers. Some 46% were residents of Lahore, with a mean age of $47{\pm}12$ years. Less than 1% were at Stage 0 and 10%, 32%, 35% and 23% were at Stage I, II, III and IV respectively. Histopathology was unknown in 4% while 91%, 2% and 1% had invasive ductal carcinoma (IDC), invasive lobular carcinoma (ILC) and mucinous carcinoma respectively. Rare carcinomas accounted for the rest. Tumor grade 1, 2 and 3 was 11%, 55% and 34% among the known. Profile of breast cancer patients in Pakistan follows a pattern similar to that of other developing countries with earlier peak age and advanced disease stage at presentation. The male breast cancer accounts for higher proportion in the local population. Local women have higher frequency of IDC and lower frequency of ILC and DCIS, owing probably to a different risk profile. Use of hospital information systems and establishment of population based cancer registry is required to have accurate and detailed local data. Promotion of breast health awareness and better health care system is required to decrease the burden of advanced disease.

Genetic Polymorphisms of GSTM1 and GSTT1 Genes in Delhi and Comparison with other Indian and Global Populations

  • Sharma, Anita;Pandey, Arvind;Sardana, Sarita;Sehgal, Ashok;Sharma, Joginder K.
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5647-5652
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    • 2012
  • The glutathione S-transferases (GSTs) are involved in the metabolism of many xenobiotics, including an array of environmental carcinogens, pollutants, and drugs. Genetic polymorphisms in these genes may lead to inter-individual variation in susceptibility to various diseases. In the present study, GSTM1 and GSTT1 polymorphisms were analysed using a multiplex polymerase chain reaction in 500 normal individuals from Delhi. The frequency of individuals with GSTM1 and GSTT1 null genotypes were 168 (33.6%) and 62 (12.4%) respectively, and 54(10.8%) were having homozygous null genotype for both the genes GSTM1 and GSTT1simultaneously. The studied population was compared with reported frequencies from other neighbouring state populations, as well as with those from other ethnic groups; Europeans, Blacks, and Asians. The prevalence of homozygous null GSTM1 genotype is significantly higher in Caucasians and Asians as compared to Indian population. The frequency of GSTT1 homozygous null genotypes is also significantly higher in blacks and Asians. We believe that due to large number of individuals in this study, our results are reliable estimates of the frequencies of the GSTM1, GSTT1 in Delhi. It would provide a basic database for future clinical and genetic studies pertaining to susceptibility and inconsistency in the response and/or toxicity to drugs known to be the substrates for GSTs.

Clinical Profile, Treatment and Survival Outcome of Testicular Tumors: A Pakistani Perspective

  • Bhatti, Abu Bakar Hafeez;Ahmed, Irfan;Ghauri, Rashid Khan;Saeed, Qamar;Mir, Khurram
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.1
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    • pp.277-280
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    • 2014
  • Background: Testicular cancer management is considered a marvel of modern science with excellent treatment results. Pakistan has a distinct ethnic variation and geographic distribution but data regarding clinical presentation of testicular tumors and their management is under reported. The objective of this study was to determine clinical profile, treatment modalities and survival outcome of testicular tumors in the Pakistani population. Materials and Methods: A retrospective review of patients who received treatment for testicular cancer at Shaukat Khanum Cancer Hospital from January 2009 to December 2012 was performed. Patient demographics, clinical features at presentation and treatment modalities were assessed. For categorical variables chi square test was used. Survival was calculated using Kaplan Meier survival curves and Log rank test was employed to determine significance. Results: The most common tumor was mixed germ cell tumor in 49% patients. For all tumor variants except seminoma, stage III was the most common clinical stage at presentation. Majority of patients with non seminomatous germ cell tumors presented in the15-30 year age group as compared to seminoma which was most prevalent in the 30-40 year age group. Orchiectomy followed by chemotherapy was the most common treatment modality in 80% patients. Expected 5 year survival for seminomas and non-seminomatous germ cell tumors was 96% and 90% respectively which was not significantly different (p=0.2). Conclusions: Despite a distinct clinical profile of testicular tumors in Pakistani population, survival is comparable with published reports.

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.

Clinical and Biochemical Profile of Monoclonal Gammopathies in Caribbean Patients in a Resource-limited Setting

  • Buchner-Daley, Loretta;Brady-West, Doreen;McGrowder, Donovan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6501-6504
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    • 2012
  • Background: Multiple myeloma is the most common malignant plasma cell dyscrasia and ranks second among primary haematological malignancies. This study describes the epidemiologic, clinical and pathologic profile of monoclonal gammopathies seen in the University Hospital of the West Indies (UHWI), a tertiary care referral centre. Materials and Method: A retrospective analysis of 85 cases diagnosed at UHWI over the 5-year period 2003-2007 was conducted. The cases were identified from the bone marrow records as well as the computerized database of the Medical Records Department. Clinical presentation, family and personal history and demographic data were retrieved. Haematological and biochemical results were also analyzed. Results: There were 85 patients diagnosed with monoclonal gammopathies. The M:F ratio was 1.2:1 and the mean age was $65.7{\pm}1.3$ years. Eighty percent of the patients had skeletal pain and 40% experienced weight loss. Of the patients experiencing bone pain 56.7% had multiple lytic lesions, 26.7% had pathological fractures and 26.7% had compression fractures. Seventy-four patients (87.1%) had a haemoglobin level <12.0 g/dL with 52.9% having values <8.0 g/dL. Renal impairment was evident at diagnosis in 36.5%. Hypercalcemia was seen in 26.5% and hyperuricemia in 45.9%. Of the 79 patients who had serum protein electrophoresis performed, 77.2% had at least one monoclonal band and of these 24.6% had a monoclonal protein also present on urine protein electrophoresis. Conclusions: The demographic profile in this group of patients is largely similar to other studies in predominantly Caucasian populations; however there was a notable increase in prevalence of severe disease at presentation, with the majority of patients presenting at the most advanced stage. It is probable that these differences reflect socioeconomic factors and not merely inherent ethnic variation in disease biology.