• Title/Summary/Keyword: Phenotypes

Search Result 1,002, Processing Time 0.031 seconds

Association Analysis of Single Nucleotide Polymorphisms in miR-146a and miR-196a2 on the Prevalence of Cancer in Elderly Japanese: A Case-Control Study

  • Parlayan, Cuneyd;Ikeda, Shinobu;Sato, Noriko;Sawabe, Motoji;Muramatsu, Masaaki;Arai, Tomio
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.5
    • /
    • pp.2101-2107
    • /
    • 2014
  • Background: Single nucleotide polymorphisms (SNPs) affecting microRNA (miR) sequences may influence carcinogenesis. Our current study primarily aimed to confirm previously conducted association studies between rs2910164 found on miR-146a, and rs11614913 located on miR-196a2 polymorphisms and cancer phenotypes in the Japanese elderly population. rs2910164 (G/C) and rs11614913 (T/C) polymorphisms were determined by genotyping on the samples collected from 1,351 consecutive autopsy cases registered in the Japanese SNPs for geriatric research (JG-SNP) data base. Cancer samples were systematically reviewed, pathologically verified and assessed with respect to miR-146a and miR-196a2 genotypic variation. The current study covered 726 males and 625 females with a mean age of $80.3{\pm}8.9$ years. The study included 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. Males with cancers (n=467) were more numerous than females (n=360). Both rs11614913 (CT: TT adjusted odds ratio (OR) 95% confidence interval (95%CI)=0.98 (0.75-1.28), p=0.873, CC: TT adjusted OR (95%CI)=1.06 (0.76-1.47), p=0.737, CT+CC: TT, adjusted OR (95%CI)=0.99 (0.77-1.29), p=0.990), and rs2910164 (CG: CC adjusted OR (95%CI)=1.12 (0.87-1.44), p=0.383, GG: CC adjusted OR (95%CI)=1.03 (0.71-1.48), p=0.887, CG+GG: CC adjusted OR (95%CI)=1.10 (0.87-1.39), p=0.446) polymorphisms did not show significant association with overall cancer in all subjects. However, "CC" genotype in rs11614913 polymorphism was significantly associated with increased gastric cancer (n=160) in all subjects (CC: CT+TT, adjusted OR (95%CI)=1.50 (1.02-2.22), p=0.040). We found that rs11614913 and rs2910164 do not pose general cancer risk, but rs11614913 may influence gastric cancer in Japanese elderly population. Confirmation of our study results requires further investigations with larger subject populations.

Clinical Efficacy and Prognosis Factors for Advanced Hepatoblastoma in Children: A 6-year Retrospective Study

  • Zhang, Yi;Zhang, Wei-Ling;Huang, Dong-Sheng;Hong, Liang;Wang, Yi-Zhuo;Zhu, Xia;Hu, Hui-Min;Zhang, Pin-Wei;Yi, You;Han, Tao
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.8
    • /
    • pp.4583-4589
    • /
    • 2013
  • Objective: This study aimed to investigate the effect of multimodality treatment of advanced paediatric hepatoblastoma (HB) and the factors affecting prognosis. Methods: A total of 35 children underwent multimodality treatments consisting of chemotherapy, surgery, interventional therapy, and autologous peripheral blood stem cell transplantation. The patients were followed up every month. Results: Serum AFP levels in 33 out of 35 patients in this study were significantly increased (P = 0.0002). According to the statistical scatter plot, the values of serum AFP on the 25th, 50th, and 75th percentages were 1,210, 1,210 and 28,318 ng/dl, respectively. Of the 35 cases, 21 were stage IV. 18 cases were treated with systemic chemotherapy before surgery, and 3 cases with locally interventional chemotherapy before surgery. Statistical analysis showed that the preferred interventional treatment affected prognosis, and that there was a statistically significant difference (P = 0.024). Some 33 patients completed the follow-up, of which 17 were in complete remission (CR), 5 were in partial remission (PR), 1 became disease progressive (DP), and 10 died. The remission and overall survival rates were 66.7% (22/33) and 69.7% (23/33), respectively. Patients with the mixed HB phenotypes had worse prognoses than the epithelial phenotype (P < 0.001), and patients in stage IV had a lower survival rate than those in stage III (P < 0.001). Conclusion: Multimodality treatment can effectively improve remission rate and prolong the survival of children with advanced HB. In addition, alpha-fetoprotein (AFP), a tumor marker of liver malignant tumors, HB pathological classification, and staging are highly useful in predicting prognosis.

Association Analyses of ${\beta}_3AR$ Trp64Arg and UCP-2 -866G/A Polymorphisms with Body Mass Index in Korean (한국인에서 ${\beta}_3AR$, UCP2 유전자의 다형성과 체질량지수의 관련성)

  • Jung, Hong-Soo;Lee, Joo-Hyun;SaKong, Jun;Bae, Sung-Wook;Kim, Jung-Hye;Kim, Jae-Ryong
    • Journal of Yeungnam Medical Science
    • /
    • v.24 no.2
    • /
    • pp.252-261
    • /
    • 2007
  • Background : Obesity is the most common nutritional disorder in Western society as well as in Korea. Obesity results from a combination of genetic, environmental, and behavioral factors. Materials and Methods : In an attempt to investigate the association of obesity with its candidate genes, ${\beta}3$ adrenergic receptor (${\beta}_3AR$) and uncoupling protein 2 (UCP2), we analyzed polymorphisms of ${\beta}_3AR$ Trp64Arg and UCP2 -866G/A by PCR-RFLP analysis and the obesity-related phenotypes, including body mass index (BMI), fasting glucose concentration, and plasma lipid profiles in 750 subjects. Results : The Trp64Arg polymorphism in the ${\beta}_3AR$ gene was not statistically associated with the BMI. The UCP2 -866G/A polymorphism was significantly higher in obese than in non-obese subjects (P<0.05). However, the UCP2 -866A/A polymorphism was higher in the non-obese subjects. Conclusion : These results suggest that the UCP2 -866G/A polymorphism might be more useful for the prediction of obesity and obesity-associated diseases in Korean patients than the ${\beta}_3AR$ Trp64Arg polymorphism.

  • PDF

Association of UDP-galactose-4-epimerase with milk protein concentration in the Chinese Holstein population

  • Li, Cong;Cai, Wentao;Liu, Shuli;Zhou, Chenghao;Cao, Mingyue;Yin, Hongwei;Sun, Dongxiao;Zhang, Shengli;Loor, Juan J.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.33 no.11
    • /
    • pp.1725-1731
    • /
    • 2020
  • Objective: An initial RNA-Sequencing study revealed that UDP-galactose-4-epimerase (GALE) was one of the most promising candidates for milk protein concentration in Chinese Holstein cattle. This enzyme catalyzes the interconversion of UDP-galactose and UDP-glucose, an important step in galactose catabolism. To further validate the genetic effect of GALE on milk protein traits, genetic variations were identified, and genotypes-phenotypes associations were performed. Methods: The entire coding region and the 5'-regulatory region (5'-UTR) of GALE were re-sequenced using pooled DNA of 17 unrelated sires. Association studies for five milk production traits were performed using a mixed linear animal model with a population encompassing 1,027 Chinese Holstein cows. Results: A total of three variants in GALE were identified, including two novel variants (g.2114 A>G and g.2037 G>A) in the 5'-UTR and one previously reported variant (g.3836 G>C) in an intron. All three single nucleotide polymorphisms (SNPs) were associated with milk yield (p<0.0001), fat yield (p = 0.0006 to <0.0001), protein yield (p = 0.0232 to <0.0001) and protein percentage (p<0.0001), while no significant associations were detected between the SNPs and fat percentage. A strong linkage disequilibrium (D' = 0.96 to 1.00) was observed among all three SNPs, and a 5 Kb haplotype block involving three main haplotypes with GAG, AGC, and AGG was formed. The results of haplotype association analyses were consistent with the results of single locus association analysis (p<0.0001). The phenotypic variance ratio above 3.00% was observed for milk protein yield that was explained by SNP-g.3836G >C. Conclusion: Overall, our findings provided new insights into the polymorphic variations in bovine GALE gene and their associations with milk protein concentration. The data indicate their potential uses for marker-assisted breeding or genetic selection schemes.

Correlation between Magnifying Narrow-band Imaging Endoscopy Results and Organoid Differentiation Indicated by Cancer Cell Differentiation and its Distribution in Depressed-Type Early Gastric Carcinoma

  • Tatematsu, Hidezumi;Miyahara, Ryoji;Shimoyama, Yoshie;Funasaka, Kohei;Ohno, Eizaburou;Nakamura, Masanao;Kawashima, Hiroki;Itoh, Akihiro;Ohmiya, Naoki;Hirooka, Yoshiki;Watanabe, Osamu;Maeda, Osamu;Ando, Takafumi;Goto, Hidemi
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.5
    • /
    • pp.2765-2769
    • /
    • 2013
  • Background: A close association between patterns identified by magnifying narrow-band imaging (M-NBI) and histological type has been described. M-NBI patterns were also recently reported to be related to the mucin phenotype; however, detials remain unclear. Materials and Methods: We investigated the cellular differentiation of gastric cancer lesions, along with their mucosal distribution observed by M-NBI. Ninety-seven depressed-type early gastric cancer lesions (74 differentiated and 23 undifferentiated adenocarcinomas) were visualized by M-NBI. Findings were divided into 4 patterns based on abnormal microvascular architecture: a chain loop pattern (CLP), a fine network pattern (FNP), a corkscrew pattern (CSP), and an unclassified pattern. Mucin phenotypes were judged as gastric (G-type), intestinal (I-type), mixed gastric and intestinal (M-type), and null (N-type) based on 4 markers (MAC5AC, MUC6, MUC2, and CD10). The relationship of each pattern of microvascular architecture with organoid differentiation indicated by cancer cell differentiation and its distribution in each histological type of early gastric cancer was investigated. Results: All CLP and FNP lesions were differentiated. The cancer cell distribution showed organoid differentiation in 84.2% (16/19) and 61.1% (22/36) of the two types of lesions, respectively, and there was a significant difference from the unclassified pattern with organoid differentiation (p<0.001). Almost all (94.7%; 18/19) CSP lesions were undifferentiated, and organoid differentiation was observed in 72.2% (13/18). There was a significant difference from the unclassified pattern with organoid differentiation (p<0.05). Conclusions: Cellular differentiation and distribution are associated with microvascular architecture observed by M-NBI.

Estimation of Genetic Parameters and Trends for Weaning-to-first Service Interval and Litter Traits in a Commercial Landrace-Large White Swine Population in Northern Thailand

  • Chansomboon, C.;Elzo, M.A.;Suwanasopee, T.;Koonawootrittriron, S.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.23 no.5
    • /
    • pp.543-555
    • /
    • 2010
  • The objectives of this research were the estimation of genetic parameters and trends for weaning-to-first service interval (WSI), and litter traits in a commercial swine population composed of Landrace (L), Large White (T), LT, and TL animals in Chiang Mai, Northern Thailand. The dataset contained 4,399 records of WSI, number of piglets born alive (NBA), litter weight of live piglets at birth (LBW), number of piglets at weaning (NPW), and litter weight at weaning (LWW). Variance and covariance components were estimated with REML using 2-trait analyses. An animal model was used for WSI and a sire-dam model for litter traits. Fixed effects were farrowing year-season, breed group of sow, breed group of boar (litter traits), parity, heterosis (litter traits), sow age, and lactation length (NPW and LWW). Random effects were boar (litter traits), sow, permanent environment, and residual. Heritabilities for direct genetic effects were low for WSI (0.04${\pm}$0.02) and litter traits (0.05${\pm}$0.02 to 0.06${\pm}$0.02). Most heritabilities for maternal litter trait effects were 20% to 50% lower than their direct counterparts. Repeatability for WSI was similar to its heritability. Repeatabilities for litter traits ranged from 0.15${\pm}$0.02 to 0.18${\pm}$F0.02. Direct genetic, permanent environment, and phenotypic correlations between WSI and litter traits were near zero. Direct genetic correlations among litter traits ranged from 0.56${\pm}$0.20 to 0.95${\pm}$0.05, except for near zero estimates between NBA and LWW, and LBW and LWW. Maternal, permanent environment, and phenotypic correlations among litter traits had similar patterns of values to direct genetic correlations. Boar genetic trends were small and significant only for NBA (-0.015${\pm}$0.005 piglets/yr, p<0.004). Sow genetic trends were small, negative, and significant (-0.036${\pm}$0.013 d/yr, p<0.01 for WSI; -0.017${\pm}$0.005 piglets/yr, p<0.007, for NBA; -0.015${\pm}$0.005 kg/yr, p<0.01, for LBW; -0.019${\pm}$0.008 piglets/yr, p<0.02, for NPW; and -0.022${\pm}$0.006 kg/yr, p<0.003, for LWW). Permanent environmental correlations were small, negative, and significant only for WSI (-0.028${\pm}$0.011 d/yr, p<0.02). Environmental trends were positive and significant only for litter traits (p<0.01 to p<0.0003). Selection based on predicted genetic values rather than phenotypes could be advantageous in this population. A single trait analysis could be used for WSI and a multiple trait analysis could be implemented for litter traits.

Isolation and Characterization of the Mutants in the Genes Involved in Mating Pheromone Signalling (효모의 mating pheromone 신호전달과정에 관여하는 유전자의 돌연변이 분리 및 분석)

  • Kim, Ji-Hye;Kim, Hwan-Gyu;Jahng, Kwang-Yeop
    • The Korean Journal of Mycology
    • /
    • v.19 no.4
    • /
    • pp.266-275
    • /
    • 1991
  • The gene CDC70 encoding the${\alpha}-subunit$ of G protein has been known to be a component involved in mating pheromone signalling in the yeast, Saccharomyces cerevisiae. To isolate mutations of the genes involved in the signal transduction, Saccharomyces cerevisiae the strain bearing the cdc70-5 mutation was mutagenized to be forced to recover the ability of colony-formation at restrictive temperature, which means the new mutation can suppress the temperature sensitivity of the cdc70-5 phenotypes. Among these suppressors, $sir^-$ and $mat{\alpha}2^{-}$ mutations are excluded because of no relationship to signal transducer. And the selected suppressors were analyzed for the linkage relationships by the tetrad analysis. Out of fifteen suppressors isolated, twelve were classified into four linkage groups, designated as sga1, sga2, sga3, sga4 by the tetrad analysis. The other three genes were determined for the linkage.

  • PDF

Sensing the Stress: the Role of the Stress-activated p38/Hog1 MAPK Signalling Pathway in Human Pathogenic Fungus Cryptococcus neoformans

  • Bahn, Yong-Sun;Heitman, Joseph
    • Proceedings of the Microbiological Society of Korea Conference
    • /
    • 2007.05a
    • /
    • pp.120-122
    • /
    • 2007
  • All living organisms use numerous signal-transduction pathways to sense and respond to their environments and thereby survive and proliferate in a range of biological niches. Molecular dissection of these signalling networks has increased our understanding of these communication processes and provides a platform for therapeutic intervention when these pathways malfunction in disease states, including infection. Owing to the expanding availability of sequenced genomes, a wealth of genetic and molecular tools and the conservation of signalling networks, members of the fungal kingdom serve as excellent model systems for more complex, multicellular organisms. Here, we employed Cryptococcus neoformans as a model system to understand how fungal-signalling circuits operate at the molecular level to sense and respond to a plethora of environmental stresses, including osmoticshock, UV, high temperature, oxidative stress and toxic drugs/metabolites. The stress-activated p38/Hog1 MAPK pathway is structurally conserved in many organisms as diverse as yeast and mammals, but its regulation is uniquely specialized in a majority of clinical Cryptococcus neoformans serotype A and D strains to control differentiation and virulence factor regulation. C. neoformans Hog1 MAPK is controlled by Pbs2 MAPK kinase (MAPKK). The Pbs2-Hog1 MAPK cascade is controlled by the fungal "two-component" system that is composed of a response regulator, Ssk1, and multiple sensor kinases, including two-component.like (Tco) 1 and Tco2. Tco1 and Tco2 play shared and distinct roles in stress responses and drug sensitivity through the Hog1 MAPK system. Furthermore, each sensor kinase mediates unique cellular functions for virulence and morphological differentiation. We also identified and characterized the Ssk2 MAPKKK upstream of the MAPKK Pbs2 and the MAPK Hog1 in C. neoformans. The SSK2 gene was identified as a potential component responsible for differential Hog1 regulation between the serotype D sibling f1 strains B3501 and B3502 through comparative analysis of their meiotic map with the meiotic segregation of Hog1-dependent sensitivity to the fungicide fludioxonil. Ssk2 is the only polymorphic component in the Hog1 MAPK module, including two coding sequence changes between the SSK2 alleles in B3501 and B3502 strains. To further support this finding, the SSK2 allele exchange completely swapped Hog1-related phenotypes between B3501 and B3502 strains. In the serotype A strain H99, disruption of the SSK2 gene dramatically enhanced capsule biosynthesis and mating efficiency, similar to pbs2 and hog1 mutations. Furthermore, ssk2, pbs2, and hog1 mutants are all hypersensitive to a variety of stresses and completely resistant to fludioxonil. Taken together, these findings indicate that Ssk2 is the critical interface protein connecting the two-component system and the Pbs2-Hog1 pathway in C. neoformans.

  • PDF

Evaluation of Morphological Characteristics and RAPD Analysis in Korean Landraces of Naked Barley (재래종 쌀보리의 형태적 특성 및 RAPD에 의한 유연 관계 분석)

  • Cho, Won-Kyong;Lee, Jeong-Min;Kwon, Moo-Sik;Chung, Tae-Young
    • Journal of Plant Biotechnology
    • /
    • v.29 no.4
    • /
    • pp.217-222
    • /
    • 2002
  • Barley varieties collected from 1940 to 1951 allover the Korean peninsula by Dr. Takahashi Ryuhei were reintroduced from the Research Institute for Bioresouces in Okayama University, Japan, and the evaluation of morphological characteristics and RAPD analysis were performed. Totally, 493 varieties of Korean barley landraces were planted in the green house, from which seeds of 491 varieties were harvested and conserved in the seedbank of the Rural Development Administration. Majority of the naked barley varieties showed dense spikes with long awn, late heading, winter habits, and long plant height. However, variants having various phenotypes such as short awn, blue aleurone color, brachytic type and waxyness were also identified. Plant height, spike length, and cold-tolerance in the varieties were also highly variable among them. Homogeneity tests on the variation of growth habits, spike density, anthocyanin pigmentation on the seed coat, and hairiness on leaf sheath between naked and covered barley showed that the variations of naked barley were similar to those of covered barley. It maybe indicate that the most of naked barley landraces were mutated from the covered barley landraces. Korean landraces of naked barley were broadly divided into 4 groups by the dendrogram produced by morphological characteristics; however, the identities of the group were rather indistinct. Many varieties, belonged to the same group, were showed different band patterns in RAPD analysis using 5 different primer sets. These results indicate that the 112 varieties of naked barley landraces were different genotypes.

Plant Regeneration and Mutagenesis from Organogenic Callus of Dianthus Distributed in Gangwon Province (강원지역 패랭이꽃속의 캘러스로부터 식물체 재분화와 돌연변이체 유발)

  • Chang, Mi-Young;Hong, Sung-Won;Kim, Joon-Chul
    • Journal of Plant Biotechnology
    • /
    • v.30 no.1
    • /
    • pp.73-80
    • /
    • 2003
  • Useful Dianthus species were collected and selected from two native and seven foreign species distributed in Gangwon province. For in vitro breeding,. callus was induced from the explants of apical meristem, leaf, stem and the in vitro adventitious shoots on MS basal medium with 2.0 mg/L 2,4-D and 0.5 mg/L BA at 27$^{\circ}C$ under continuous light. After 3 weeks of culture, calli initiated the most highly from the leaf explants of D. chinensis Organogenic calli were able to be selected from the adventitious shoot-derived calli. For shoot regeneration, these organogenic calli were cultured on MS medium with the combination of 0.1 mg/L NAA+1.0 mg/L BA under continuous light. Multiple shoots were proliferated with low frequency (about 30%) from those adventitious shootderived calli. Also, shoots initiated directly from the adventitious shoot explants without callus formation at high frequency of 52% when cultured on N6 medium containing 0.1 mg/L NAA and 1.0 mg/L BA in D. gratianopol. Multiple shoots and plantlets grew well and rooted on MS medium supplemented with 0.1 mg/L NAA. Regenerants with well-developed roots were transferred to 8-cm pots containing vermiculite at 85% relative humidity and 27$^{\circ}C$ These plantlets were acclimatized in artificial soil mixture and transferred to the greenhouse for flowering with normal phenotypes. M28 Mutant line was selected with white flowers from 0.03M EMS-treated organogenic calli derived from in vitro adventitious shoot explants of D. chinensis and set seeds.