• 제목/요약/키워드: Protein polymorphism

검색결과 357건 처리시간 0.037초

한국인 남성 운동선수군에서 Osteocalcin 유전자의 C298T 다형성의 분포와 골밀도와의 관계 (The Distribution of C298T Polymorphism in the Oseteocalcin Gene from Korean Male Athletes and its Association with Bone Mineral Density)

  • 정인근;강병용;김지영;오상덕;하남주
    • 약학회지
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    • 제50권1호
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    • pp.26-32
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    • 2006
  • Osteocalcin is a vitamin K dependent and bone specific protein which plays an important role in the regulation of bone and calcium metabolism. In this study, we evaluated the relationship between the C298T polymorphism in the osteocalcin gene and bone mineral density (BMD) in Korean young men and their interaction with physical activity. BMDs of the femoral neck and lumbar spine were measured using dual energy X-ray absorptiometry, and the C298T polymorphism in the osteocalcin gene determined using polymerase chain reaction (PCR)-HindIII restriction fragment length polymorphism (RFLP) method. We did not observe any significant differences in the femoral neck and lumbar spine BMDs across genotypes of this polymorphism in controls, athletes or combined groups, respectively (P>0.05). Therefore, our data suggest that the C298T polymorphism in the osteocalcin gene is not a suitable genetic marker for the susceptibility to BMD.

Isoelectric Focusing of the Hemolymph Proteins of the Silkworm, Bombyx mori

  • Staykova, Teodora;Popov, Petar;Grekov, Dimitar;Terzieva, Petia
    • International Journal of Industrial Entomology and Biomaterials
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    • 제8권1호
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    • pp.117-121
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    • 2004
  • Soluble proteins of silkworm hemolymph were investigated by means of isoelectric focusing (IEF). The protein spectra during ontogenesis of races and inter-races hybrids kept in Bulgaria was studied. A total of 51 protein bands in the hemolymph from fourth larval instar to imago were ascertained. Stage specific expression was established. The specific expression of some protein bands in the individual spectra manifest phenotype of gene determinate polymorphism (HP F, HP J, HP K, HP L, HP Q - in the zone with pH gradient 3.5-6.2 and HP K, HP L, HP N, HP P, HP T - in the zone with pH gradient 9.5 - 6.2). Breed specific expression was observed. On the basis of the obtained results, it was established that the investigated breeds are heterogeneous and the isoelectric focusing method is successful when specifying the inner-race and inter-race polymorphism in silkworm.

Blood Protein Polymorphisms of Native Fowls in Laos

  • Okamoto, S.;Tsunekawa, N.;Kawamoto, Y.;Worawut, R.;Kawabe, K.;Maeda, Y.;Nishida, T.
    • Asian-Australasian Journal of Animal Sciences
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    • 제12권7호
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    • pp.1011-1014
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    • 1999
  • Blood protein polymorphism of fowls in Laos was analyzed by electrophoresis. Blood samples were collected in the area of Viangchan, Louangphrabang and Pakxe. Out of 17 loci, polymorphism was detected at the following seven loci; ES-1, Amy-1, Akp-akp, Akp-2, Alb, Tf and Pas. The other ten loci; Amy-3, LDH, 6-PGD, PGM, PHI, To, MDH, Es-D, Hb-l, Hb-2 were noted to be monomorphic. The proportion of polymorphic loci $(P_{poly})$, the expected average heterozygosity per individual ($\bar{H}$), and the subdivision index $(G_{ST})$ of the native fowl in Laos was $0.412{\pm}0.123$, 0.106 and 0.026, respectively. Genetic distance between native fowls in Laos, Bangladesh, and Nepal was clustered in one group.

The Effect of A-3826G Polymorphism of Uncoupling Protein-Ion Visceral Fat Area in Overweight Korean Women

  • Kim, Kil-Soo;Cha, Min-Ho;Kim, Jong-Yeol;Shin, Seung-Uoo;Yoon, Yoo-Sik
    • Preventive Nutrition and Food Science
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    • 제10권3호
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    • pp.279-284
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    • 2005
  • Uncoupling protein-1 (UCP-1) plays a major role in thermogenesis, and has been implicated in the pathogenesis of obesity and metabolic disorders. The aim of this study was to estimate the effects of A-3826G polymorphism of UCP-1 gene on body fat distribution. Two hundred forty eight Korean female overweight subjects with BMI more than 25 kgfm2 participated in this study. The areas of abdominal subcutaneous and visceral fat of all subjects were measured from computed tomography cross sectional pictures of the umbilical region. Subcutaneous fat areas of upper and lower thigh were also measured. Body composition was measured by bio-impedance analysis, and serum concentrations of biochemical parameters, such as glucose, triglyceride, cholesterol etc, were also measured. Genotype of UCP-1 was analyzed by polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) method. The frequencies of UCP-1 genotypes were AA type; $27.8\%,\;AG\;type;\;51.2\%\;and\;GG\;type;\;21.0\%,$ and the frequency of G allele was 0.47. Body weight, BMI, WHR, SBP, DBP and body compositions were not significantly different by UCP-1 genotype. Abdominal visceral fat area was significantly higher in AG and GG type compared with AA type (p=0.009), but subcutaneous fat areas were not significantly different by UCP-1 genotype. Among biochemical parameters, LDL cholesterol level was significantly higher in GG type compared with AA and AG types (p=0.033). Among all subjects, 121 subjects finished 1 month weight loss program containing hypocaloric diet and exercise. The reduction of body weight and BMI were lower in GG type compared with AA/AG type even though statistical significances were not found (p > 0.05). These results suggest that UCP-1 genotype has a significant effect on visceral fat accumulation among Korean female overweight subjects with BMI more than $25\;kg/m^2$.

Monocyte chemoattractant protein-1 polymorphism interaction with spirulina immunomodulatory effects in healthy Korean elderly: A 16-week, double-blind randomized clinical trial

  • Park, Hee Jung;Lee, Hyun Sook
    • Nutrition Research and Practice
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    • 제11권4호
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    • pp.290-299
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    • 2017
  • BACKGROUND/OBJECTIVES: Spirulina is a known a functional food related to lipid profiles, immune functions, and antioxidant capacity. Circulating monocyte chemoattractant protein-1 (MCP-1) level is associated with inflammation markers. Single nucleotide polymorphism in the MCP-1 promoter region -2518 have been identified and shown to affect gene transcription. Gene variation may also impact functional food supplementary effects. The current study investigated the interaction of MCP-1 -2518 polymorphism with spirulina supplements on anti-inflammatory capacity in Korean elderly. SUBJECTS/METHODS: After genotyping, healthy elderly subjects (n = 78) were included in a randomized, double blind, and placebo controlled study. Baseline characteristic, body composition, and dietary intake were measured twice (baseline vs. week 16). For 16 weeks, subjects consumed 8 g either spirulina or placebo daily. Plasma MCP-1, interleukin (IL) -2, IL-6, tumor necrosis factor (TNF)-${\alpha}$, complement (C) 3, immunoglobulin (Ig) G, and Ig A concentrations and lymphocyte proliferation rate (LPR) were analyzed as inflammatory markers. RESULTS: In the placebo group with A/A genotype, MCP-1 level was significantly increased, but the spirulina group with A/A genotype was unchanged. IL-2 was significantly increased only in subjects with spirulina supplementation. TNF-${\alpha}$ was significantly reduced in subjects with the G carrier. C3 was significantly increased in the placebo group, particularly when A/A increased more than G, but not when spirulina was ingested. LPR was significantly different only in subjects with A/A genotype; there was a significant increase in phytohemagglutinin and lipopolysaccharide induced LPR in the spirulina group. CONCLUSION: In healthy Korean elderly, spirulina supplementation may influence different inflammatory markers by the MCP-1 genotype. These results may be useful for customized dietary guidelines to improve immune function in Koreans.

Impact of the Copper Transporter Protein 1 (CTR1) Polymorphism on Adverse Events among Advanced Non-Small Cell Lung Cancer Patients Treated with Carboplatin-Gemcitabine Regimen

  • Kumpiro, Siriluk;Sriuranpong, Virote;Areepium, Nutthada
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권9호
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    • pp.4391-4394
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    • 2016
  • Background: Platinum-based regimens are effective treatments for advanced non-small cell lung cancer (NSCLC), but the five-year survival rate is still less than 20%. One possible factor appears to be resistance involving polymorphisms in the CTR1 gene which plays an importance role in accumulation of platinum in the cytoplasm. Purpose: To establish both prevalence of CTR1 polymorphism and its impact on treatment related toxicity in Thai advanced NSCLC patients. Materials and Methods: Thirty-two advanced NSCLC participants received carboplatin and gemcitabine during January to June 2016 at King Chulalongkorn Memorial Hospital (KCMH) were recruited for analysis of the CTR1 rs12686377 genotype. These participants were planning to be treated with platinum-based chemotherapy for at least two cycles. Results: Allele frequency of CTR1 polymorphism $G{\rightarrow}T$ was found to be 25%. The results showed that genetic polymorphism at CTR1 rs12686377 was associated with emesis side effects (P = 0.020) and neuropathic symptoms (P = 0.010). In addition, hematologic side effects in terms of anemia also tended to be related to this polymorphism. Conclusions: This is the first study suggesting that polymorphism at CTR1 rs12686377 may be associated with toxicity from platinum-based regimens. Therefore, it could be a factor to aid in treatment decision-making.

Association of a miR-502-Binding Site Single Nucleotide Polymorphism in the 3'-Untranslated Region of SET8 and the TP53 Codon 72 Polymorphism with Cervical Cancer in the Chinese Population

  • Yang, Shao-Di;Cai, Yan-Lin;Jiang, Pei;Li, Wen;Tang, Jian-Xin
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권16호
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    • pp.6505-6510
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    • 2014
  • Objective: This study was conducted to identify whether polymorphic variants of set domain-containing protein 8 (SET8) and tumor protein p53 (TP53) codon 72, either independently or jointly, might be associated with increased risk for cervical cancer. Methods: We genotyped SET8 and TP53 codon 72 polymorphisms of peripheral blood DNA from 114 cervical cancer patients and 200 controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing. Results: The frequency of SET8 CC (odds ratios (OR) = 2.717, 95% CI=1.436-5.141) or TP53 GG (OR=2.168, 95% CI=1.149-4.089) genotype was associated with an increased risk of cervical cancer on comparison with the SET8 TT or TP53 CC genotypes, respectively. In additional, interaction between the SET8 and TP53 polymorphisms increased the risk of cervical cancer in a synergistic manner, with the OR being 9.913 (95% CI=2.028-48.459) for subjects carrying both SET8 CC and TP53 GG genotypes. Conclusion: These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction.

Association between the TP53BP1 rs2602141 A/C Polymorphism and Cancer Risk: A Systematic Review and Meta-Analysis

  • Liu, Lei;Zhang, Dong;Jiao, Jing-Hua;Wang, Yu;Wu, Jing-Yang;Huang, De-Sheng
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권6호
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    • pp.2917-2922
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    • 2014
  • Background: The p53-binding protein 1 (TP53BP1) gene may be involved in the development of cancer through disrupting DNA repair. However, investigation of associations between TP53BP1 rs2602141 A/C polymorphism and cancer have yielded contradictory and inconclusive outcomes. We therefore performed a meta-analysis to evaluate the association between the TP53BP1 rs2602141 A/C polymorphism and cancer susceptibility. Materials and Methods: Published literature from PubMed, Medline, the Cochrane Library, EMbase, Web of Science, Google (scholar), CBMDisc, Chongqing VIP database, and CNKI database were retrieved. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using fixed or random-effects models. Publication bias was estimated using funnel plots, Begg's and Egger's test. Results: A total of seven studies (3,018 cases and 5,548 controls) were included in the meta-analysis. Our results showed that the genotype distribution of TP53BP1 rs2602141 A/C was not associated with cancer risk overall. However, on subgroup analysis, we found that TP53BP1 rs2602141 A/C was associated with cancer risk within an allele model (A vs C, OR=1.14, 95%CI: 1.01-1.29) and a codominant model (AA vs CC, OR=1.36, 95%CI: 1.06-1.74) in Asians rather than in Caucasians. Subgroup analysis by cancer type, genotype, and with or without adjustment for controls showed no significant association. Conclusions: The findings suggested an association between rs2602141 A/C polymorphism in TP53BP1 gene and increased risk of cancer in Asians.

Molecular discrimination of Panax ginseng cultivar K-1 using pathogenesis-related protein 5 gene

  • Wang, Hongtao;Xu, Fengjiao;Wang, Xinqi;Kwon, Woo-Saeng;Yang, Deok-Chun
    • Journal of Ginseng Research
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    • 제43권3호
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    • pp.482-487
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    • 2019
  • Background: The mixed-cultivation of different Panax ginseng cultivars can cause adverse effects on stability of yield and quality. K-1 is a superior cultivar with good root shape and stronger disease resistance. DNA markers mined from functional genes are clearly desirable for K-1, as they may associate with major traits and can be used for marker-assisted selection to maintain the high quality of Korean ginseng. Methods: Five genes encoding pathogenesis-related (PR) proteins of P. ginseng were amplified and compared for polymorphism mining. Primary, secondary, and tertiary structures of PR5 protein were analyzed by ExPASy-ProtParam, PSSpred, and I-TASSER methods, respectively. A coding single nucleotide polymorphism (SNP)-based specific primer was designed for K-1 by introducing a destabilizing mismatch within the 3' end. Allele-specific polymerase chain reaction (PCR) and real-time allele-specific PCR assays were conducted for molecular discrimination of K-1 from other cultivars and landraces. Results: A coding SNP leading to the modification of amino acid residue from aspartic acid to asparagine was exploited in PR5 gene of K-1 cultivar. Bioinformatics analysis showed that the modification of amino acid residue changed the secondary and tertiary structures of the PR5 protein. Primer KSR was designed for specific discrimination of K-1 from other ginseng cultivars and landraces. The developed real-time allele-specific PCR assay enabled easier automation and accurate genotyping of K-1 from a large number of ginseng samples. Conclusion: The SNP marker and the developed real-time allele-specific PCR assay will be useful not only for marker-assisted selection of K-1 cultivar but also for quality control in breeding and seed programs of P. ginseng.

Association between I/D Polymorphism of Human LRPAP1 Gene and Body Mass Index in Korean General Population

  • Kang, Byung-Yong;Bae, Hak-Gyoon;Jhin, Hae-Kyung;Lee, Kyung-Soon;Lee, Kang-Oh
    • Toxicological Research
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    • 제19권3호
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    • pp.205-210
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    • 2003
  • The aim of this study was to estimate the influence of 37 bp insertion/deletion (I/O) poly-morphism of the low density lipoprotein receptor-related protein-associated protein 1 (LRPAP1) gene on anthropometrical or biochemical parameters in korean general population. To determine the frequency of the genotype, we analyzed 244 samples of Korean origin. The frequency of the I allele was 0.55 in men and 0.56 in women, which were significantly higher than the frequency (0.26) that was reported in Czech population of Caucasian origin. In addition, the I allele of this polymorphism was significantly associated with higher value of body mass index (BMI) in our subjects by ANOVA test (P<0.05), and this association was maintained after controlling for age and gender by ANCOVA test (P<0.05). Thus, our results suggest that the I/O polymorphism of the LRPAP1 gene may be useful as a genetic marker for obesity in Korean general population.