• Title/Summary/Keyword: Genetic Background

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Estimation of the quantitative trait loci associated with breaking and bending types lodging resistance in rice using chromosome segment substitution lines derived from a cross between Takanari and Koshihikari

  • Mulsanti, Indria Wahyu;Yamamoto, Toshio;Ueda, Tadamasa;Samadi, Ahmad Fahim;Adachi, Shunsuke;Hirasawa, Tadashi;Ookawa, Taiichiro
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.133-133
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    • 2017
  • Lodging is one of the important constraints in rice production. The lodging destroys the canopy structure, and sharply reduces the capacity of photosynthetic rate and dry matter production. In cereal crops, stem lodging can be classified into two types: stem breaking type and stem bending type. To improve stem lodging resistance, it is important to reveal strong culm traits of superior lodging resistant varieties. There are large varietal differences in parameters associated with the bending moment at breaking (M) and flexural rigidity (FR). The indica variety Takanari possesses large M due to its large section modulus (SM) despite of its small bending stress (BS), while Takanari also has large FR due to its large secondary moment of inertia (SMI) and Young's modulus (YM). To identify quantitative trait loci (QTLs) and the corresponding genes associated with the parameters for M ($=SM{\times}BS$) and FR ($=SM{\times}YM$) should enable to develop lodging resistant varieties, efficiently. In order to identify QTLs for cell wall materials such as cellulose, hemicellulose and lignin associated with BS and YM, a set of Chromosome Segment of Substitution Lines (CSSLs) consisted of 37 lines with chromosome segments of Koshihikari in the genetic background of Takanari were used. Takanari had large M and small BS as compared with Koshihikari. The QTLs for BS were estimated on chromosomes 3, 5, 6, 8, 9, 10, 11 and 12. Koshihikari alleles increased BS in these QTLs. Takanari had a large FR due to its large SMI and YM as compared with Koshihikari. The YM was increased by substitution of the Koshihikari chromosomal segments on chromosomes 2, 10 and 11. Other QTLs estimated on chromosomes 7 and 12 that Koshihikari alleles contributed to the decrease of YM. For lignin, only one major QTL for lignin density was detected on chromosome 11. Hollocellulose densities were increased by the substitution of Koshihikari segments on chromosomes 5 and 11. On the other hand, these were decreased on chromosomes 1 and 3 by substitution of Koshihikari segments. QTLs for cellulose density were estimated on chromosomes 1, 3 and 5 by substitution of Koshihikari segments. For hemicellulose, QTL on chromosome 3 showed that hemicellulose density decreased by the substitution of Koshihikari segment. However, hemicellulose densities on chromosomes 5, 8 and 11 showed the opposite effects. The QTLs for hemicellulose, cellulose, and hollocelulose densities identified on chromosome 5 overlapped with that for bending stress, indicating the positive effect of Koshihikari segment on increasing bending stress. These results suggest that some QTLs for the densities of cell wall materials contribute to increasing bending stress and Young's modulus, and could be utilized to improve the lodging resistance for both types of breaking and bending in rice varieties.

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XRCC1 Gene Polymorphism, Clinicopathological Characteristics and Stomach Cancer Survival in Thailand

  • Putthanachote, Nuntiput;Promthet, Supannee;Suwanrungruan, Krittika;Chopjitt, Peechanika;Wiangnon, Surapon;Chen, Li-Sheng;Yen, Ming-Fang;Chen, Tony Hsiu-Hsi
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.14
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    • pp.6111-6116
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    • 2015
  • Background: Stomach cancer is one of leading causes of death worldwide. In Thailand, the incidence and mortality of stomach cancer are in the top ten for cancers. Effects of DNA repair gene X-ray repair cross complementary protein 1 (XRCC1) polymorphisms and clinicopathological characteristics on survival of stomach cancer in Thailand have not been previously reported. The aim of this study was to investigate the effects of XRCC1 gene and clinicopathological characteristics on survival of stomach cancer patients in Thailand. Materials and Methods: Data and blood samples were collected from 101 newly diagnosed stomach cancer cases pathologically confirmed and recruited during 2002 to 2006 and followed-up for vital status until 31 October 2012. Genotype analysis was performed using real-time PCR-HRM. The data were analyzed using the Kaplan-Meier method to yield cumulative survival curve, log-rank test to assess statistical difference of survival and Cox proportional hazard models to estimate adjusted hazard ratio. Results: The total followed-up times were 2,070 person-months, and the mortality rate was 4.3 per 100 person-months. The median survival time after diagnosis was 8.07 months. The cumulative 1-, 3-, 5-years survival rates were 40.4%, 15.2 % and 10.1 % respectively. After adjustment, tumour stage were associated with an increased risk of death (p= 0.036). The XRCC1 Gln339Arg, Arg/Arg homozygote was also associated with increased risk but statistically this was non-significant. Conclusions: In addition to tumour stage, which is an important prognostic factor affecting to the survival of stomach cancer patients, the genetic variant Gln339Arg in XRCC1 may non-significantly contribute to risk of stomach cancer death among Thai people. Larger studies with different populations are need to verify ours findings.

Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition

  • Chen, Qing-Wei;Zhang, Xiao-Mei;Zhou, Jian-Nong;Zhou, Xin;Ma, Guo-Jian;Zhu, Ming;Zhang, Yuan-Ying;Yu, Jun;Feng, Ji-Feng;Chen, Sen-Qing
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.12
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    • pp.4915-4920
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    • 2015
  • Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.

CYP2E1 Genetic Polymorphism with Dietary, Tobacco, Alcohol Habits, H. pylori Infection Status and Susceptibility to Stomach Cancer in Mizoram, India

  • Malakar, Mridul;Devi, K. Rekha;Phukan, Rup Kumar;Kaur, Tanvir;Deka, Manab;Puia, Lalhriat;Baruah, Debajit;Mahanta, Jagadish;Narain, Kanwar
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.20
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    • pp.8815-8822
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    • 2014
  • Background: The incidence of stomach cancer in India is highest in the state of Mizoram. In this population based matched case-control study, we evaluated the relationship between CYP450 2E1 RsaI polymorphism and risk of stomach cancer taking into considering various important dietary habits along with tobacco, alcohol consumption and H. pylori infection status. Materials and Methods: A total of 105 histologically confirmed stomach cancer cases and 210 matched healthy population controls were recruited. CYP2E1 RsaI genotypes were determined by PCR-RFLP and H. pylori infection status by ELISA. Information on various dietary, tobacco and alcohol habits was recorded in a standard questionnaire. Results: Our study revealed no significant association between the CYP2E1 RsaI polymorphism and overall risk of stomach cancer in Mizoram. However, we observed a non-significant protective effect of the variant allele (A) of CYP2E1 against stomach cancer. Tobacco smokers carrying C/C genotype have three times more risk of stomach cancer, as compared to non-smokers carrying C/C genotype. Both Meiziol and cigarette current and past smokers who smoked for more than 10 times per day and carrying the (C/C) genotype are more prone to develop stomach cancer. Smoke dried fish and preserved meat (smoked/sun dried) consumers carrying C/C genotype possesses higher risk of stomach cancer. No significant association between H. pylori infection and CYP2E1 RsaI polymorphism in terms of stomach cancer was observed. Conclusions: Although no direct association between the CYP2E1 RsaI polymorphism and stomach cancer was observed, relations with different tobacco and dietary risk habits in terms of developing stomach cancer exist in this high risk population of north-eastern part of India. Further in-depth study recruiting larger population is required to shed more light on this important problem.

Parathyroid Hormone Gene rs6256 and Calcium Sensing Receptor Gene rs1801725 Variants are not Associated with Susceptibility to Colorectal Cancer in Iran

  • Mahmoudi, Touraj;Karimi, Khatoon;Arkani, Maral;Farahani, Hamid;Nobakht, Hossein;Dabiri, Reza;Asadi, Asadollah;Zali, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.15
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    • pp.6035-6039
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    • 2014
  • Background: Substantial evidence from epidemiological studies has suggested that increased levels of calcium may play a protective role against colorectal cancer (CRC). Given the vital role of calcium sensing receptor (CaSR) and parathyroid hormone (PTH) in the maintenance of calcium homeostasis, we explored whether the rs1801725 (A986S) variant located in exon 7 of the CaSR gene and the rs6256 variant located in exon 3 of PTH gene might be associated with CRC risk. Materials and Methods: In this study 860 subjects including 350 cases with CRC and 510 controls were enrolled and genotyped using PCR-RFLP methods. Results: We observed no significant difference in genotype or allele frequencies between the cases with CRC and controls for both CaSR and PTH genes either before or after adjustment for confounding factors including age, BMI, sex, smoking status, and family history of CRC. Furthermore, no evidence for effect modification of any association of rs1801725 and rs6256 variants and CRC by BMI, sex, or tumor site was observed. In addition, there was no significant difference in genotype and allele frequencies between the normal weight (BMI < $25kg/m^2$) cases and overweight/obese (BMI ${\geq}25kg/m^2$) cases for the two SNPs. Conclusions: These data indicated that the CaSR gene A986S variant is not a genetic contributor to CRC risk in the Iranian population. Furthermore, our results suggest for the first time that PTH gene variant does not affect CRC risk. Nonetheless, further studies with larger sample size are needed to validate these findings.

Investigation of ICAM-1 and β3 Integrin Gene Variations in Patients with Brain Tumors

  • Yilmaz, Umit;Zeybek, Umit;Kahraman, Ozlem Timirci;Kafadar, Ali Metin;Toptas, Bahar;Yamak, Nesibe;Celik, Faruk;Yaylim, Ilhan
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.5929-5934
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    • 2013
  • Background: Primary brain tumors constitute a small percent of all malignant cancers, but their etiology remains poorly understood. ${\beta}3$ integrin (ITGB3) has been recognized to play influential roles in angiogenesis, tumor growth and metastasis. Intercellular adhesion molecule-1 (ICAM-1) is a surface glycoprotein important for tumor invasion and angiogenesis. The aim of this study was to investigate whether specific genetic polymorphisms of ICAM-1 and ITGB3 could be associated with brain cancer development and progression in a Turkish population. Our study is the first to our knowledge to investigate the relationship between brain tumor risk and ICAM-1 and ${\beta}3$ integrin gene polymorphisms. Materials and Methods: The study covered 92 patients with primary brain tumors and 92 age-matched healthy control subjects. Evaluation of ${\beta}3$ integrin (Leu33Pro (rs5918)) and ICAM-1 (R241G (rs1799969) and K469E (rs5498)) gene polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: According to results of our research, the A allele of the ICAM-1 R241G gene polymorphism appeared to be a risk factor for primary brain tumors (p<0.001). Similarly, the frequency of the A mutant allele of ICAM-1 R241G was statistically significant in patients with brain tumors classified as glioma (p<0.001). When allele and genotype distributions of ICAM-1 K469E, ICAM-1 R241G and ${\beta}3$ integrin Leu33Pro gene polymorphisms were evaluated with age, sex, and smoking, there were no statistically significant differences. Haplotype analysis revealed that the frequencies of GAC (rs1799969-rs5498-rs5918) and GAT (rs1799969-rs5498-rs5918) haplotypes were significantly lower in patients as compared with controls (p=0.001; p=0.036 respectively). Conclusions: This study provides the first evidence that ICAM-1 R241G SNP significantly contributes to the risk of primary brain tumors in a Turkish population. In addition, our results suggest that ICAM-1 R241G in combination ICAM-1 K469E may have protective effects against the development of brain cancer.

Matrix Metalloproteinase-2 (-1306 C>T) Promoter Polymorphism and Risk of Colorectal Cancer in the Saudi Population

  • Saeed, Hesham Mahmoud;Alanazi, Mohammad Saud;Parine, Narasimha Reddy;Shaik, Jilani;Semlali, Abdelhabib;Alharbi, Othman;Azzam, Nahla;Aljebreen, Abdulrahman;Almadi, Majid;Shalaby, Manal Aly
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.6025-6030
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    • 2013
  • Background: Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity against matrix proteins, particularly basement membrane constituents. A single nucleotide polymorphism (SNP) at -1306, which disrupts a Sp1-type promoter site (CCACC box), results in strikingly lower promoter activity with the T allele. In the present study, we investigated whether this MMP-2 genetic polymorphism might be associated with susceptibility to colorectal cancer (CRC) in the Saudi population. We also analyzed MMP-2 gene expression level sin CRC patients and 4 different cancer cell lines. Materials and Methods: TaqMan allele discrimination assays and DNA sequencing techniques were used to investigate the $C^{-1306}T$ SNP in the MMP-2 gene of Saudi colorectal cancer patients and controls. The MMP-2 gene expression level was also determined in 12 colon cancer tissue samples collected from unrelated patients and histologically normal tissues distant from tumor margins. Results and Conclusions: The MMP-2 $C^{-1306}T$ SNP in the promoter region was associated with CRC in our Saudi population and the MMP-2 gene expression level was found to be 10 times higher in CRC patients. The MMP-2 $C^{-1306}T$ SNP is significantly associated with CRC in the Saudi population and this finding suggested that MMP-2 variants might help predict CRC progression risk among Saudis. We propose that analysis of this gene polymorphism could assist in identification of patient subgroups at risk of a poor disease outcome.

Teratoma Formation in Immunocompetent Mice After Syngeneic and Allogeneic Implantation of Germline Capable Mouse Embryonic Stem Cells

  • Aldahmash, Abdullah;Atteya, Muhammad;Elsafadi, Mona;Al-Nbaheen, May;Al-Mubarak, Husain Adel;Vishnubalaji, Radhakrishnan;Al-Roalle, Ali;Al-Harbi, Suzan;Manikandan, Muthurangan;Matthaei, Klaus Ingo;Mahmood, Amer
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.5705-5711
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    • 2013
  • Background: Embryonic stem cells (ESCs) have the potential to form teratomas when implanted into immunodeficient mice, but data in immunocompetent mice are limited. We therefore investigated teratoma formation after implantation of three different mouse ESC (mESC) lines into immunocompetent mice. Materials and Methods: BALB/c mice were injected with three highly germline competent mESCs (129Sv, BALB/c and C57BL/6) subcutaneously or under the kidney capsule. After 4 weeks, mice were euthanized and examined histologically for teratoma development. The incidence, size and composition of teratomas were compared using Pearson Chi-square, t-test for dependent variables, one-way analysis of variance and the nonparametric Kruskal-Wallis analysis of variance and median test. Results: Teratomas developed from all three cell lines. The incidence of formation was significantly higher under the kidney capsule compared to subcutaneous site and occurred in both allogeneic and syngeneic mice. Overall, the size of teratoma was largest with the 129Sv cell line and under the kidney capsule. Diverse embryonic stem cell-derived tissues, belonging to the three embryonic germ layers, were encountered, reflecting the pluripotency of embryonic stem cells. Most commonly represented tissues were nervous tissue, keratinizing stratified squamous epithelium (ectoderm), smooth muscle, striated muscle, cartilage, bone (mesoderm), and glandular tissue in the form of gut- and respiratory-like epithelia (endoderm). Conclusions: ESCs can form teratomas in immunocompetent mice and, therefore, removal of undifferentiated ESC is a pre-requisite for a safe use of ESC in cell-based therapies. In addition the genetic relationship of the origin of the cell lines to the ability to transplant plays a major role.

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
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    • v.24 no.2
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    • pp.252-261
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    • 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.

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Effect of IL-1 Polymorphisms, CYP2C19 Genotype and Antibiotic Resistance on Helicobacter pylori Eradication Comparing Between 10-day Sequential Therapy and 14-day Standard Triple Therapy with Four-Times-Daily-Dosing of Amoxicillin in Thailand: a Prospective Randomized Study

  • Phiphatpatthamaamphan, Kittichet;Vilaichone, Ratha-korn;Siramolpiwat, Sith;Tangaroonsanti, Anupong;Chonprasertsuk, Soonthorn;Bhanthumkomol, Patommatat;Pornthisarn, Bubpha;Mahachai, Varocha
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.1903-1907
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    • 2016
  • Background: Studies of effects of IL-1 polymorphisms, CYP2C19 genotype together with antibiotic resistance for H. pylori eradication are rare worldwide. The present study was designed to evaluate efficacy of 10-day sequential therapy (SQT) and 14-day standard triple therapy (STT) with four- times-daily dosing of amoxicillin for H. pylori eradication related to these important host and bacterial factors in Thailand. Materials and Methods: This prospective randomized study was performed during March 2015 to January 2016. H. pylori infected gastritis patients were randomized to receive 10-day sequential therapy and 14-day standard triple therapy. CYP2C19 genotyping, IL1 polymorphism (IL-1B and IL-1RN genotypes) and antibiotic susceptibility tests were performed in all patients. 13C-UBT was conducted to confirm H. pylori eradication at least 4 weeks after treatment. Results: A total of 100 patients (33 males and 67 females, mean age=51.1 years) were enrolled. Eradication rate by PP analysis was 97.9% (47/48) with the 10-day SQT regimen and 87.8% (43/49) with 14-day STT regimen (97.9% vs 87.8%; p-value=0.053). Antibiotic susceptibility testing demonstrated 45% resistance to metronidazole, 14.8% to clarithromycin, and 24.1% to levofloxacin. CYP2C19 genotyping revealed 44.9% RM, 49% IM and 6.1% PM. IL-1B and IL-1RN genotypes were demonstrated as 21.4% for CC, 48.1% for TC, 36.8% for TT, 72.7% for 1/1, and 21.2% for 1/2 genotypes, respectively. The 10-day SQT regimen provided 100% eradication in patients with clarithromycin or dual clarithromycin and levofloxacin H. pylori resistant strains. Moreover, the 10-day SQT regimen resulted in a 100% eradication rate in all patients with CYP2C19 genotype RM and almost type of IL-1B (TC and TT) and IL1-RN genotypes ( 1/2 and other). Conclusions: Treatment with 10-day sequential therapy is highly effective for H. pylori eradication regardless of the effects of clarithromycin resistance, dual clarithromycin and levofloxacin resistance, CYP2C19 genotype, IL-1B and IL1-RN genetic polymorphisms and can be used as effective first line therapy in Thailand.