• Title/Summary/Keyword: Genetic Factors

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Environmental Factors in Autism and Autistic Spectrum Disorder (자폐 스펙트럼장애의 환경 요인)

  • Lim, Myung-Ho;Kwon, Ho-Jang
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.22 no.1
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    • pp.3-9
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    • 2011
  • Autism and autistic spectrum disorder are chronic neuro-developmental disorders characterized by social and language impairments and stereotyped, repetitive patterns of behavior. The etiology of autism remains unknown; however, a strong genetic component has been detected and environmental factors may also be involved in their etiologies. In the current study, we reviewed evidence for the presence of prenatal and perinatal factors, gastrointestinal factors, food allergies, metabolic and heavy metal factors, and other nutritional factors that may represent risk factors for the development of autism and autistic spectrum disorder.

Saudi Women's Interest in Breast Cancer Gene Testing: Possible Influence of Awareness, Perceived Risk and Socio-demographic Factors

  • Amin, Tarek Tawfik;Al-Wadaani, Hamed Abdullah;Al-Quaimi, Manal Mubarak;Aldairi, Nedaa' Abdullah;Alkhateeb, Jawaher Mohammed;Al-Jaafari, Azzam Abdul Lateef
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.8
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    • pp.3879-3887
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    • 2012
  • Background: Development of effective educational strategies should accompany increases in public awareness and the availability of genetic testing for breast cancer (BC). These educational strategies should be designed to fulfill the knowledge gap while considering factors that influence women's interest in order to facilitate decision making. Objective: To determine the possible correlates of Saudi women's interest in BC genes testing including socio-demographics, the level of awareness towards BC genes, the family history of BC and the perceived personal risk among adult Saudi women in Al Hassa, Saudi Arabia. Subjects and methods: This cross-sectional study was carried out during the second BC community-based campaign in Al Hassa, Saudi Arabia. All Saudi women aged ${\geq}18$ years (n=781) attending the educational components of the campaign were invited to a personal interview. Data collection included gathering information about sociodemographics, family history of BC, the perceived personal risk for BC, awareness and attitude towards BC genes and the women's interest in BC genes testing. Results: Of the included women (n=599), 19.5% perceived higher risk for BC development, significantly more among < 40 years of age, and with positive family history of BC before 50 years of age. The participants demonstrated a poor level of awareness regarding the inheritance, risk, and availability of BC genetic testing. The median summated knowledge score was 1.0 (out of 7 points) with a knowledge deficit of 87.8%. The level of knowledge showed significant decline with age (> 40 years). Of the included women 54.7% expressed an interest in BC genetic testing for assessing their BC risk. Multivariate regression model showed that being middle aged (Odds Ratio 'OR'=1.88, confidence intervals 'C.I'=1.14-3.11), with higher knowledge level (OR=1.67, C.I=1.08-2.57) and perceiving higher risk for BC (OR=2.11, C.I=1.61-2.76) were the significant positive correlates for Saudi women interest in BC genetic testing. Conclusion: Saudi women express high interest in genetic testing for BC risk despite their poor awareness. This great interest may reflect the presence of inappropriate information regarding BC genetic testing and its role in risk analysis.

Factors Affecting the Incidence of Angel Wing in White Roman Geese: Stocking Density and Genetic Selection

  • Lin, M.J.;Chang, S.C.;Lin, T.Y.;Cheng, Y.S.;Lee, Y.P.;Fan, Y.K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.6
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    • pp.901-907
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    • 2016
  • The present study investigated stocking density and genetic lines, factors that may alter the severity and incidence of angel wing (AW), in White Roman geese. Geese (n = 384) from two genetically selected lines (normal- winged line, NL, and angel-winged line, AL, respectively) and one commercial line (CL) were raised in four pens. Following common commercial practice, low-stocking-density (LD), medium-stocking-density, and high-stocking-density treatments were respectively administered to 24, 32, and 40 geese per pen at 0 to 3 weeks ($1.92m^2/pen$) and 4 to 6 weeks ($13.2m^2/pen$) of age and to 24, 30, and 36 geese at 7 to 14 weeks ($20.0m^2/pen$) of age. The results revealed that stocking density mainly affected body weight gain in geese younger than 4 weeks, and that geese subjected to LD had a high body weight at 2 weeks of age. However, the effect of stocking density on the severity score of AW (SSAW) and incidence of AW (IAW) did not differ significantly among the treatments. Differences were observed among the genetic stocks; that is, SSAW and IAW were significantly higher in AL than in NL and CL. Genetic selection generally aggravates AW, complicating its elimination. To effectively reduce IAW, stocking density, a suspected causal factor, should be lower than that presently applied commercially.

A New PAR Reduction Scheme in OFDM Systems by PTS Using Genetic Algorithm (유전자 알고리즘을 적용한 PTS에 의한 새로운 OFDM 시스템 PAR 감소 기법)

  • Kim Sung-Soo;Kim Myoung-Je
    • The Journal of Korean Institute of Electromagnetic Engineering and Science
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    • v.16 no.10 s.101
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    • pp.995-1002
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    • 2005
  • An orthogonal frequency division multiplexing(OFDM) system has the problem of the peak-to-average power ratio(PAR). In general, in order to obtain optimal PAR reduction using the partial transmitted sequence(PTS), the total search for the number of sub-blocks and the rotation factors must be accomplished. As the number of sub-blocks and rotation factors increases, PAR reduction improves, such that complexity increases exponentially and the process delay occurs simultaneously. Therefore a technique that reduces PAR, which is almost close to optimal, and the amount of calculation is desired. In this paper a new method using genetic algorithm(GA), which is widely used to search for a point that is globally optimal in many problems, is proposed to search for a rotation factor that reduces simultaneously both the PAR and the amount of calculation, such that the complexity of calculation and the process time are reduced at the same time, Comparison is performed between the proposed method and the various techniques developed previously. The superiority of proposed method is presented by demonstrating the reduction of complexity while a similar PAR reduction is obtained.

Morphological and genetic differences among white-, red- and blue colored root lines in Codonopsis lanceolata (백더덕, 홍더덕, 청더덕의 외부형태적 특성 및 유전적 차이 분석)

  • Kim, Ji-Ah;Bae, Kee-Hwa;Kwon, Hye-Kyoung;Yi, Jae-Seon;Choi, Yong-Eui
    • Journal of Plant Biotechnology
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    • v.36 no.2
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    • pp.124-129
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    • 2009
  • In general, the root color of Codonopsis lanceolata is white, but red or blue-colored root is found at a low frequency in nature. Red or blue-colored roots have scarcity value, thus farmers wish to produce colored roots. The factors for determining the color of roots are unclear whether the color is controlled by genetically or simply by environmentally such as soil environment. Using in vitro culture system which is advantageous for setting of the same culture condition, we analyzed the physiological and morphological characteristics and genetic differences among red-, blue- and white lines of C. lanceolata. In the red colored roots, stems of in vitro cultured plantlet were colored in dark red pigment. Histological analysis revealed that the red pigment was accumulated in the outer cortex layer of the stem and determined as anthocyanin. Chlorophyll contents in red root lines were higher than those in white- and blue root lines. Plantlets from red roots were smaller in both shoot length and total leaf area than those from white- and blue roots. Genetic differences among the three different colored C. lanceolata were determined by RAPD (Randomly Amplified Polymorphic DNA) analysis. Each line of colored roots had clear DNA polymorphism. These results indicate that the occurrence of red- and blue colored roots in nature was determined by genetic factors rather than soil enviromental conditions.

Roles of Forkhead-box Transcription Factors in Controlling Development, Pathogenicity, and Stress Response in Magnaporthe oryzae

  • Park, Jaejin;Kong, Sunghyung;Kim, Seryun;Kang, Seogchan;Lee, Yong-Hwan
    • The Plant Pathology Journal
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    • v.30 no.2
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    • pp.136-150
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    • 2014
  • Although multiple transcription factors (TFs) have been characterized via mutagenesis to understand their roles in controlling pathogenicity and infection-related development in Magnaporthe oryzae, the causal agent of rice blast, if and how forkhead-box (FOX) TFs contribute to these processes remain to be characterized. Four putative FOX TF genes were identified in the genome of M. oryzae, and phylogenetic analysis suggested that two of them (MoFKH1 and MoHCM1) correspond to Ascomycota-specific members of the FOX TF family while the others (MoFOX1 and MoFOX2) are Pezizomycotina-specific members. Deletion of MoFKH1 (${\Delta}Mofkh1$) resulted in reduced mycelial growth and conidial germination, abnormal septation and stress response, and reduced virulence. Similarly, ${\Delta}Mohcm1$ exhibited reduced mycelial growth and conidial germination. Conidia of ${\Delta}Mofkh1$ and ${\Delta}Mohcm1$ were more sensitive to one or both of the cell cycle inhibitors hydroxyurea and benomyl, suggesting their role in cell cycle control. On the other hand, loss of MoFOX1 (${\Delta}Mofox1$) did not show any noticeable changes in development, pathogenicity, and stress response. Deletion of MoFOX2 was not successful even after repeated attempts. Taken together, these results suggested that MoFKH1 and MoHCM1 are important in fungal development and that MoFKH1 is further implicated in pathogenicity and stress response in M. oryzae.

Association between Prostaglandin-endoperoxide Synthase 2 (PTGS2) Polymorphisms and Blood Pressure in Korean Population

  • Jin, Hyun-Seok;Hong, Kyung-Won;Lim, Ji-Eun;Han, Hye-Ree;Lee, Jong-Young;Park, Hun-Kuk;Oh, Berm-Seok
    • Genomics & Informatics
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    • v.6 no.3
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    • pp.110-116
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    • 2008
  • Blood pressure refers to the force exerted by circulating blood on the walls of blood vessels, and chronical elevation of blood pressure is known as hypertension. Although hypertension is affected by genetic and environmental factors, the genetic background of hypertension is not fully understood. One of the candidate genetic factors, Prostaglandin-endoperoxide synthase 2 (PTGS2), is a membrane-bound enzyme, catalyzing the conversion of arachidonic acid to prostaglandin, and recently SNPs of PTGS2 gene was associated with hypertension in Japanese population. Therefore the association of PTGS2 polymorphisms was investigated with blood pressure in healthy Korean subjects, 470 unrelated individuals randomly selected from Ansung and Ansan cohorts. The 25 SNPs of PTGS2 gene were identified by the sequencing analysis of 24 Korean samples. Among identified polymorphisms, three SNPs (rs689466, -1329A>G; rs5275, +6365T>C; rs4648308, +8806G> A) were selected for further association analysis, and rs689466 located in promoter region was associated with blood pressure as well as triglyceride level in the blood. By in silico analysis, rs689466 locates in v-Myb transcription factor binding site, and the v-Myb site disappears when the SNP is changed from A to G nucleotide. Individuals with A/G and G/G genotype in rs689466 have higher blood pressure than those with A/A genotype, and the regression p-value is 0.008 for systolic and 0.004 for diastolic blood pressure. In summary, the PTGS2 polymorphism (rs689466) is associated with blood pressure in Asian populations based on this and Japanese studies, shedding light on it as a genetic risk marker of hypertension.

Inhibitory effects of ginsenosides on basic fibroblast growth factor-induced melanocyte proliferation

  • Lee, Ji Eun;Park, Jong Il;Myung, Cheol Hwan;Hwang, Jae Sung
    • Journal of Ginseng Research
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    • v.41 no.3
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    • pp.268-276
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    • 2017
  • Background: UV-B-exposed keratinocytes secrete various paracrine factors. Among these factors, basic fibroblast growth factor (bFGF) stimulates the proliferation of melanocytes. Ginsenosides, the major active compounds of ginseng, are known to have broad pharmacological effects. In this study, we examined the antiproliferative effects of ginsenosides on bFGF-induced melanocyte proliferation. Methods: We investigated the inhibitory effects of Korean Red Ginseng and ginsenosides from Panax ginseng on bFGF-induced proliferation of melan-a melanocytes. Results: When melan-a melanocytes were treated with UV-B-irradiated SP-1 keratinocytes media, cell proliferation increased. This increased proliferation of melanocytes decreased with a neutralizing anti-bFGF antibody. To elucidate the effects of ginsenosides on melanocyte proliferation induced by bFGF, we tested 15 types of ginsenoside compounds. Among them, Rh3, Rh1, F1, and CK demonstrated antiproliferative effects on bFGF-induced melanocyte proliferation after 72 h of treatment. bFGF stimulated cell proliferation via extracellular signal-regulated kinase (ERK) activation in various cell types. Western blot analysis found bFGF-induced ERK phosphorylation in melan-a. Treatment with Rh3 inhibited bFGF-induced maximum ERK phosphorylation and F1-delayed maximum ERK phosphorylation, whereas Rh1 and CK had no detectable effects. In addition, cotreatment with Rh3 and F1 significantly suppressed bFGF-induced ERK phosphorylation. Western blot analysis found that bFGF increased microphthalmia-associated transcription factor (MITF) protein levels in melan-a. Treatment with Rh3 or F1 had no detectable effects, whereas cotreatment with Rh3 and F1 inhibited bFGF-induced MITF expression levels more strongly than a single treatment. Conclusion: In summary, we found that ginsenosides Rh3 and F1 have a synergistic antiproliferative effect on bFGF-induced melan-a melanocyte proliferation via the inhibition of ERK-mediated upregulation of MITF.

Hereditary Breast Cancer in Korea

  • Kim, Sung-Won
    • Journal of Genetic Medicine
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    • v.9 no.1
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    • pp.1-10
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    • 2012
  • About 7% of all breast cancer (BC) cases result from a genetic predisposition, and approximately 1,000 patients develop hereditary BC (HBC) every year in Korea. BRCA1 and BRCA2 are the primary genes underlying HBC. The average cumulative risks in BRCA1 mutation carriers at 70 years of age are 65% (95% confidence interval 44-78%) for BC and 39% (18-54%) for ovarian cancer (OC). The corresponding estimates for BRCA2 are 45% (31-56%) and 11% (2.4-19%), respectively. The penetrance of BRCA mutations is not the same between patients and can depend on factors such as race and birth-cohort. The Korean Hereditary Breast Cancer (KOHBRA) study is a large prospective nationwide study that includes 39 participating centers. Between May 2007 and May 2010, the first phase of the KOHBRA study was planned and fulfilled successfully. The primary aim of phase I was to estimate the prevalence of BRCA1/2 mutations and OC among a high-risk group of patients with HBC and their families. According to data collected during phase I of the study, the prevalence and penetrance of BRCA mutations were comparable to corresponding data from Western countries. For the second phase of the KOHBRA study, we are currently investigating a Korean BRCA mutation prediction model, prognostic factors in BRCA-related BC, environmental/genetic modifiers, and implementing a genetic counseling network. The final goal of the KOHBRA study is to create clinical practice guidelines for HBC in Korea. In this article, I review the genetics of HBC, summarize the characteristics of Korean HBC, and discuss current and future HBC research in Korea.