• Title, Summary, Keyword: Genotype

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Effects of the CYP2C19 Genetic Polymorphism on Gastritis, Peptic Ulcer Disease, Peptic Ulcer Bleeding and Gastric Cancer

  • Jainan, Wannapa;Vilaichone, Ratha-Korn
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.24
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    • pp.10957-10960
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    • 2015
  • Background: The CYP2C19 genotype has been found to be an important factor for peptic ulcer healing and H. pylori eradication, influencing the efficacy of proton pump inhibitors (PPIs) and the pathogenesis of gastric cancer. The aim of this study was to investigate clinical correlations of the CYP2C19 genotype in patients with gastritis, peptic ulcer disease (PUD), peptic ulcer bleeding (PUB) and gastric cancer in Thailand. Materials and Methods: Clinical information, endoscopic findings and H. pylori infection status of patients were assessed between May 2012 and November 2014 in Thammasat University Hospital, Thailand. Upper GI endoscopy was performed for all patients. Five milliliters of blood were collected for H. pylori serological diagnosis and CYP2C19 study. CYP2C19 genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis (RFLP) and classified as rapid metabolizer (RM), intermediate metabolizer (IM) or poor metabolizer (PM). Results: A total of 202 patients were enrolled including 114 with gastritis, 36 with PUD, 50 with PUB and 2 with gastric cancer. Prevalence of CYP2C19 genotype was 82/202 (40.6%) in RM, 99/202 (49%) in IM and 21/202 (10.4%) in PM. Overall H. pylori infection was 138/202 patients (68.3%). H. pylori infection was demonstrated in 72% in RM genotype, 69.7% in IM genotype and 47.6% in PM genotype. Both gastric cancer patients had the IM genotype. In PUB patients, the prevalence of genotype RM (56%) was highest followed by IM (32%) and PM(12%). Furthermore, the prevalence of genotype RM in PUB was significantly greater than gastritis patients (56% vs 36%: p=0.016; OR=2.3, 95%CI=1.1-4.7). Conclusions: CYP2C19 genotype IM was the most common genotype whereas genotype RM was the most common in PUB patients. All gastric cancer patients had genotype IM. The CYP2C19 genotype RM might be play role in development of PUD and PUB. Further study in different population is necessary to verify clinical usefulness of CYP2C19 genotyping in development of these upper GI diseases.

PCR-SSCP Polymorphism of Inhibin ${\beta}_A$ Gene in Some Sheep Breeds

  • Chu, M.X.;Xiao, C.T.;Fu, Y.;Fang, L.;Ye, S.C.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.7
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    • pp.1023-1029
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    • 2007
  • Inhibins participate in the regulation of pituitary follicle-stimulating hormone synthesis and secretion, follicular maturation and steroidogenesis in the female. Inhibin ${\beta}_A$ gene (INHBA) was studied as a candidate gene for the prolificacy of sheep. Single nucleotide polymorphisms of the entire coding region and partial 3' untranslated region of INHBA were detected by PCR-SSCP in two high fecundity breeds (Small Tail Han and Hu sheep) and six low fecundity breeds (Dorset, Texel, German Mutton Merino, South African Mutton Merino, Chinese Merino and Corriedale sheep). Only the PCR products amplified by primers 3, 4 and 5 displayed polymorphisms. For primer 3, genotype CC was only detected in Chinese Merino sheep, genotype AA was detected in the other seven sheep breeds. Genotype BB was only detected in Hu sheep. Only Hu sheep displayed polymorphism. Eight or four nucleotide mutations were revealed between BB or CC and AA, respectively, and these mutations did not result in any amino acid change. For primer 4, genotypes EE, EG and GG were detected in Dorset and German Mutton Merino sheep, genotypes EE, EF and FF were detected in Chinese Merino sheep, only genotype EE was detected in the other five sheep breeds. Only Dorset, German Mutton Merino and Chinese Merino sheep displayed polymorphism. Sequencing revealed one nucleotide mutation ($114G{\rightarrow}A$) of exon 2 of INHBA gene between genotype FF and genotype EE, and this mutation did not cause any amino acid change. Another nucleotide change ($143C{\rightarrow}T$) was identified between genotype GG and genotype EE, and this mutation resulted in an amino acid change of $serine{\rightarrow}leucine$. For primer 5, genotypes KK and KL were detected in German Mutton Merino and Corriedale sheep, genotypes KK, LL and KL were detected in the other six sheep breeds. Genotype MM was only detected in Hu sheep. All of these eight sheep breeds displayed polymorphism. Sequencing revealed one nucleotide mutation ($218A{\rightarrow}G$) of exon 2 of the INHBA gene between genotype LL and genotype KK, and nine nucleotide mutations between genotype MM and genotype KK. These mutations did not alter amino acid sequence. The partial sequence (395 bp for exon 1 and 933 bp for exon 2) of the INHBA gene in Small Tail Han sheep (with genotype KK for primer 5) was submitted into GenBank (accession number EF192431). Small Tail Han sheep displayed polymorphisms only in the fragment amplified by primer 5. The Small Tail Han ewes with genotype LL had 0.53 (p<0.05) or 0.63 (p<0.05) more lambs than those with genotype KL or KK, respectively. The Small Tail Han ewes with genotype KL had 0.10 (p>0.05) more lambs than those with genotype KK.

Effects of a Fruit Diet and Exercise on Body Composition and Hematological Parameters according to UCP2 Genotype in Female Collegians (과일식과 걷기 운동이 UCP2 유전자 다형성 특성에 따른 여대생의 신체 조성 및 혈액 성분에 미치는 영향)

  • Yun, Mi-Eun;Kang, Byung-Yong;Lee, Sang-Up;Lee, Jae-Koo
    • Journal of the East Asian Society of Dietary Life
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    • v.21 no.3
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    • pp.463-470
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    • 2011
  • The objective of this study was to examine the effects of a fruit diet and exercise on body composition and hematological parameters in female collegians according to their uncoupling protein 2 (UCP2) genotypes. Nine subjects were recruited from the SahmYook University. 4 subjects carried the ID genotype, 5 the DD genotype, and none of the subjects carried the II genotype. After 10 days of the program, BMI were significantly decreased (p<0.05) in the ID genotype and the DD genotype. Mean total energy intake from fruit diet was 888.1 kcal. Fat mass and % body fat were significantly decreased (p<0.05) in subjects with the ID genotype. Hemoglobin level was significantly increased (p<0.05) in subjects with the DD genotype. This study provided evidence that fruit diet and exercise could decrease the BMI in subjects with the ID and DD genotypes and increase the hemoglobin level in those with the DD genotype.

Effects of Genotype Mutation and Coat Color Phenotype on the Offspring from Mating System of MC1R Genotype Patterns in Korean Brindle Cattle (칡소의 MC1R의 유전자형에 따른 교배 조합이 자손의 모색과 유전자형 변이에 미치는 영향)

  • Kim, Sang-Hwan;Jung, Kyoung-Sub;Lee, Ho-Jun;Baek, Jun-Seok;Jung, Duk-Won;Kim, Dae-Eun;Yoon, Jong-Taek
    • Journal of Embryo Transfer
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    • v.28 no.3
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    • pp.215-222
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    • 2013
  • Bovine coat color is decided by the melanocortin receptor 1 (MC1R) genotype mutation and melanogenesis. Specially, in the various cattle breeds, dominant black coat color is expressed by dominant genotype of $E^D$, red or brown is expressed in the frame shift mutation of recessive homozygous e by base pair deletion and wild type of $E^+$ is expressed in various coat colors. However, not very well known about the effected of MC1R genotype mutation on the coat color through family lines in KBC. Therefore, this study were to investigate effect of MC1R genotype mutation on the coat color, and to suggest mating breed system in accordance with of MC1R genotype for increased on brindle coat color appearance. Parents (sire 2 heads and dam 3 heads) and offspring (total : 54 heads) from crossbreeding in KBC family line with the MC1R genotype and phenotype records were selected as experimental animals. The relationship between melanocortin 1 receptor (MC1R) genotypes expression verified by PCR-RFLP, and brindle coat color appearance to the family line of the cross mating breed from MC1R genotype pattern was determined. As a result, 4MC1R genetic variations, $E^+/E^+$ (sire 1), $E^+/e$ (sire 2 and dam 3), $E^+/e$ with 4 bands of 174, 207 and 328 bp (dam 1) and $E^+/e$ with 3 bands of 174, 207, 328 and 535 bp (dam 2) from parents (sire and dam) of KBC. However, 3 genetic variations, e/e (24%), $E^+/E^+$ (22%) and $E^+/e$ (56%) were identified in offspring. Also, brindle coat color expressrated was the e/e with the 0%, $E^+/E^+$ with 67% and $E^+/e$ with 77% from MC1R genotype in offspring on the cross mating of KBC. Furthermore, when the sire had $E^+/e$ genotype and the dam had $E^+/E^+$ with the 3 bands or $E^+/e$ genotype, and both had whole body-brindle coat color, 62% of the offspring had whole body-brindle coat color. Therefore, the seresults, the mating system from MC1R genotype patterns of the sires ($E^+/e$) and dams ($E^+/E^+$ with the 3 bands or $E^+/e$) with brindle coat color may have the highest whole body-brindle coat color expression in their offspring.

GSTT1 Null Genotype Distribution in the Kumaun Region of Northern India

  • Bag, Arundhati;Upadhyay, Saloni;Jeena, Lalit M.;Pundir, Princi;Jyala, Narayan S.
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.1
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    • pp.87-89
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    • 2013
  • Glutathione S-transferases (GSTs) constitute a multigene family of multifunctional phase II metabolic enzymes. GSTT1, an important member of this group has a wide range of substrates including carcinogens. Total homozygous deletion or null genotype resulting in total lack of enzyme activity exists in populations for this enzyme. Since the null genotype may contribute to lower detoxification of carcinogens, this genotype is expected to increase cancer risk. The frequency of the GSTT1 null genotype is known to vary significantly among populations. However, little is known about its distribution in the hilly Kumaun region of northern India. Therefore, in this study, we determined the prevalence of the GSTT1 null polymorphism in the Kumaun popilation by conducting duplex PCR in 365 voluntary healthy individuals. The GSTT1 null genotype was detected in 18.4% of the individuals. Since GSTs play significant role in xenobiotic metabolism, the present data on GSTT1 genotype distribution should contribute in understanding genetic association with cancer risk in this understudied population.

Interpretation of Genotype × Environment Interaction of Sesame Yield Using GGE Biplot Analysis

  • Shim, Kang-Bo;Shin, Seong-Hyu;Shon, Ji-Young;Kang, Shin-Gu;Yang, Woon-Ho;Heu, Sung-Gi
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.60 no.3
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    • pp.349-354
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    • 2015
  • The AMMI (additive main effects and multiplicative interaction) and GGE (genotype main effect and genotype by environment interaction) biplot which were accounted for a substantial part of total sum of square in the analysis of variance suggested to be more appropriate models for explaining G $\times$ E interaction. The grain yield of total ten sesame genotypes was significantly affected by environment which explained 61% of total variation, whereas genotype and genotype x environment interaction (G $\times$ E) were explained 16%, 24% respectively. From the results of experiment, three genotypes Miryang49, Koppoom and Ansan were unstable, whereas other three genotypes Kyeongbuk18, Miryang50 and Kanghuk which were shorter projections to AEA ordinate were relatively stable over the environments. Yangbak which was closeness to the mean yield and short projection of the genotype marker lines was regarded as genotype indicating good performance with stability. Ansan, Miryang48 and Yangbaek showed the best performance in the environments of Naju, Suwon, Iksan and Andong. Similarly, genotype Miyrang47 exhibited the best performance in the environments of Chuncheon and Miryang. Andong is the closest to the ideal environment, and therefore, is the most desirable among eight environments.

Lymphocyte DNA damage and plasma antioxidant status in Korean subclinical hypertensive patients by glutathione S-transferase polymorphism

  • Han, Jeong-Hwa;Lee, Hye-Jin;Choi, Hee Jeong;Yun, Kyung Eun;Kang, Myung-Hee
    • Nutrition Research and Practice
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    • v.11 no.3
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    • pp.214-222
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    • 2017
  • BACKGROUND/OBJECTIVES: Glutathione S-transferase (GST) forms a multigene family of phase II detoxification enzymes which are involved in the detoxification of xenobiotics by conjugating substances with glutathione. The aim of this study is to assess the antioxidative status and the degree of DNA damage in the subclinical hypertensive patients in Korea using glutathione S-transferase polymorphisms. SUBJECTS/METHODS: We examined whether DNA damage and antioxidative status show a difference between GSTM1 or GSTT1 genotype in 227 newly diagnosed, untreated (systolic blood pressure $(BP){\geq}130mmHg$ or diastolic $BP{\geq}85mmHg$) subclinical hypertensive patients and 130 normotensive subjects (systolic BP < 120 mmHg and diastolic BP < 80 mmHg). From the blood of the subjects, the degree of the DNA damage in lymphocyte, the activities of erythrocyte superoxide dismutase, the catalase, and the glutathione peroxidase, the level of glutathione, plasma total radical-trapping antioxidant potential (TRAP), anti-oxidative vitamins, as well as plasma lipid profiles and conjugated diene (CD) were analyzed. RESULTS: Of the 227 subjects studied, 68.3% were GSTM1 null genotype and 66.5% were GSTT1 null genotype. GSTM1 null genotype had an increased risk of hypertension (OR: 2.104, CI: 1.38-3.35), but no significant association in GSTT1 null genotype (OR 0.982, CI: 0.62-1.55). No difference in erythrocyte activities of superoxide dismutase, catalase, or glutathione peroxidase, and plasma TRAP, CD, lipid profiles, and GSH levels were observed between GSTM1 or GSTT1 genotype. Plasma levels of ${\alpha}-tocopherol$ increased significantly in GSTT1 wild genotype (P < 0.05); however, plasma level of ${\beta}-carotene$ increased significantly in GSTT1 null genotype (P < 0.01). DNA damage assessed by the Comet assay was significantly higher in GSTM1 null genotype than wild genotype (P < 0.05). CONCLUSIONS: These results confirm the association between GSTM1 null genotype and risk of hypertension as they suggest that GSTM1 null genotype leads to an increased oxidative stress compared with wild genotype.

Polymorphism of Insulin-like Growth Factor Binding Protein-4 Gene in 17 Pig Breeds and Its Relationship with Growth Traits

  • Wang, Wenjun;Hu, Xiaoxiang;Fei, Jin;Meng, Qinyong;Li, Ning
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.10
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    • pp.1490-1495
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    • 2007
  • Insulin-like growth factor binding protein-4 (IGFBP-4) is a member of the IGF super family, and regulates the action of IGFs. The polymorphism of porcine IGFBP-4 gene in 17 pig breeds (total n = 570) was detected by PCR-SSCP, and alleles A and B were detected. In these pig breeds, it was found that exotic pig breeds carried high frequencies of allele A, while Chinese native pig breeds carried high frequencies of allele B. The role of porcine IGFBP-4 was investigated in 172 F2 offspring of a $Lantang{\times}Lantang $ population. Forty eight growth traits were recorded for analyzing the association between IGFBP-4 gene polymorphism and quantitative performance traits. In this resource family, pigs with AA genotype had higher fore-body weight, bone weight of mid-body, bone weight of rear-body, fore-leg weight and rear-leg weight than those pigs with BB genotype (p<0.05); while pigs which carried BB genotype had higher back-fat thickness at C point and lard weight than those pigs with AA genotype (p<0.05); pigs with AA genotype had higher body weight than those with BB genotype; for meat quality traits, pigs with AA genotype had higher meat color than those of BB genotype (p<0.01), and pigs with BB genotype had higher marbling than those of AA and AB genotypes (p<0.01 and p<0.05, respectively).Based on these results, it is necessary to do more studies on IGFBP-4 before using the IGFBP-4 locus for the application of marker-assisted selection programs.

Significant Genotype Difference in the CYP2E1 PstI Polymorphism of Indigenous Groups in Sabah, Malaysia with Asian and Non-Asian Populations

  • Goh, Lucky Poh Wah;Chong, Eric Tzyy Jiann;Chua, Kek Heng;Chuah, Jitt Aun;Lee, Ping-Chin
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.17
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    • pp.7377-7381
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    • 2014
  • CYP2E1 PstI polymorphism G-1259C (rs3813867) genotype distributions vary significantly among different populations and are associated with both diseases, like cancer, and adverse drug effects. To date, there have been limited genotype distributions and allele frequencies of this polymorphism reported in the three major indigenous ethnic groups (KadazanDusun, Bajau, and Rungus) in Sabah, also known as North Borneo. The aim of this study was to investigate the genotype distributions and allele frequencies of the CYP2E1 PstI polymorphism G-1259C in these three major indigenous peoples in Sabah. A total of 640 healthy individuals from the three dominant indigenous groups were recruited for this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) at G-1259C polymorphic site of CYP2E1 gene was performed using the Pst I restriction enzyme. Fragments were analyzed using agarose gel electrophoresis and confirmed by direct sequencing. Overall, the allele frequencies were 90.3% for c1 allele and 9.7% for c2 allele. The genotype frequencies for c1/c1, c1/c2 and c2/c2 were observed as 80.9%, 18.8%, and 0.3%, respectively. A highly statistical significant difference (p<0.001) was observed in the genotype distributions between indigenous groups in Sabah with all Asian and non-Asian populations. However, among these three indigenous groups, there was no statistical significant difference (p>0.001) in their genotype distributions. The three major indigenous ethnic groups in Sabah show unique genotype distributions when compared with other populations. This finding indicates the importance of establishing the genotype distributions of CYP2E1 PstI polymorphism in the indigenous populations.

Association of Interleukin-27 rs 153109 Single Nucleotide Polymorphism with Spontaneous Resolution of Hepatitis C Virus - Genotype 4a Infection in Egyptian Patients

  • Fawzy, Mariam M;Wahid, Ahmed;Nazmy, Maiiada H;Hashem, Mohamed;Waked, Imam;Abdelwahab, Sayed F
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.2093-2097
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    • 2016
  • Background: HCV is a major global health problem. IL-27 is a member of the IL-6/IL-12 cytokine family with a broad range of anti-inflammatory properties. Recent studies highlighted the effect of a SNP in the IL-27 promoter region on modulating the progression of infectious diseases and individual responses to therapy. Aim of the work: The present study investigated the potential role of (-964 A/G) SNP in the promoter region of IL-27p28 gene (alleles rs153109) on the outcome of HCV infection among genotype 4a infected patients. Materials and Methods: HCV genotyping confirmed that all of the HCV-infected patients had genotype 4a infection. Genomic DNA was extracted from 111 patients with chronic HCV infection, 42 spontaneous resolvers (SR) and 16 healthy controls. IL- 27p28.rs153109 genotyping was assessed using PCR-RFLP then confirmed by DNA sequencing. Results: The frequency of IL-27-p28.rs153109AA, AG, and GG genotypes among chronically infected subjects were 74.8 %, 25.2%, and 0% while among the SR, they were 57.1%, 35.7%, and 7.14%, respectively. Our data show the unique presence of G/G genotype in the SR group (3 patients; 7.14%). Moreover, the "G" allele frequencies among chronic and resolved subjects were 12.6% and 25.0%, respectively (p=0.0136). Importantly, subjects with the GG genotype were more likely to clear their HCV infection than those with the AA genotype (p=0.0118). Conclusions: HCV genotype 4a subjects with the IL-27-p28.rs153109 A/G and G/G genotype were more likely to clear their HCV infection. Therefore, we propose IL- 27p28.rs153109SNPas a genetic biomarker for predicting HCV infection outcome.