Journal of Pathology and Translational Medicine

Original Articles

Identifying Polymorphisms in IL-31 and Their Association with Susceptibility to Asthma: Ji-In Yu, Weon-Cheol Han, Ki-Jung Yun, Hyung-Bae Moon, Gyung-Jae Oh, Soo-Cheon Chae; Korean J Pathol. 2012;46(2):162-168. Published online April 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.162

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Background

Interleukin 31 (IL-31) is a T helper type 2 effector cytokine that plays an important role in the pathogenesis of atopic and allergic diseases. IL-31 may be involved in promoting allergic inflammation and in inducing airway epithelial responses such as allergic asthma.

Methods

Single-base extension analysis was used to detect the genotypes of IL-31 single nucleotide polymorphisms (SNPs), and we compared the genotype and allele frequencies of the IL-31 SNPs between patients with asthma and healthy controls.

Results

There were no significant differences in the genotype and allele frequencies of the IL-31 SNPs between patients with asthma and healthy controls. Furthermore we compared the genotype and allele frequencies of IL-31 SNPs between patients with atopic asthma, those with non-atopic asthma and healthy controls. This showed that the SNPs were not associated with the susceptibility to atopic asthma. There were no significant differences in the haplotype frequencies of IL-31 SNPs between patients with asthma and healthy controls. In patients with asthma, the IL-31 SNPs were significantly correlated with total serum levels of IgE (p=0.035).

Conclusions

Our results indicate that, the IL-31 SNPs may be associated with IgE production in patients with asthma.

Citations

Citations to this article as recorded by

IL-31: State of the Art for an Inflammation-Oriented Interleukin
Francesco Borgia, Paolo Custurone, Federica Li Pomi, Raffaele Cordiano, Clara Alessandrello, Sebastiano Gangemi
International Journal of Molecular Sciences.2022; 23(12): 6507. CrossRef
Interleukin-31 and soluble CD40L: new candidate serum biomarkers that predict therapeutic response in multiple sclerosis
Isabelle Pastor Bandeira, André Eduardo de Almeida Franzoi, Giulia Murillo Wollmann, Washigton Luiz Gomes de Medeiros Junior, Wesley Nogueira Brandão, Jean Pierre Schatzmann Peron, Jefferson Becker, Osvaldo José Moreira Nascimento, Marcus Vinícius Magno G
Neurological Sciences.2022; 43(11): 6271. CrossRef
Interleukin‐31: The “itchy” cytokine in inflammation and therapy
Angeliki Datsi, Martin Steinhoff, Fareed Ahmad, Majid Alam, Joerg Buddenkotte
Allergy.2021; 76(10): 2982. CrossRef
Infection-Associated Mechanisms of Neuro-Inflammation and Neuro-Immune Crosstalk in Chronic Respiratory Diseases
Belinda Camp, Sabine Stegemann-Koniszewski, Jens Schreiber
International Journal of Molecular Sciences.2021; 22(11): 5699. CrossRef
Livestock farm particulate matter enhances airway inflammation in mice with or without allergic airway disease
Dingyu Liu, James G. Wagner, Jack R. Harkema, Miriam E. Gerlofs-Nijland, Elena Pinelli, Gert Folkerts, Rob J. Vandebriel, Flemming R. Cassee
World Allergy Organization Journal.2020; 13(4): 100114. CrossRef
IL-31: A new key player in dermatology and beyond
Işın Sinem Bağci, Thomas Ruzicka
Journal of Allergy and Clinical Immunology.2018; 141(3): 858. CrossRef
The Role of Interleukin-31 Polymorphisms in Non-Small Cell Lung Cancer Genetic Susceptibility and Clinical Outcome
Yongfeng Yang, Li Li, Fei Chen, Li Zhang, Hong Bu
Genetic Testing and Molecular Biomarkers.2018; 22(5): 314. CrossRef
Associations betweenInterleukin-31Gene Polymorphisms and Dilated Cardiomyopathy in a Chinese Population
Huizi Song, Ying Peng, Bin Zhou, Nan Chen, Xiaochuan Xie, Qingyu Dou, Yue Zhong, Li Rao
Disease Markers.2017; 2017: 1. CrossRef
The association of interleukin-31 polymorphisms with interleukin-31 serum levels and risk of systemic lupus erythematosus
Hua-Tuo Huang, Jian-Ming Chen, Jing Guo, Yan Lan, Ye-Sheng Wei
Rheumatology International.2016; 36(6): 799. CrossRef
Stem Cell Factor and Interleukin-31 Expression: Association with IgE among Egyptian Patients with Atopic and Nonatopic Bronchial Asthma
M. Moaaz, S. Abo El-Nazar, M. Abd El-Rahman, E. Soliman
Immunological Investigations.2016; 45(2): 87. CrossRef
Interleukin-31 expression and relation to disease severity in human asthma
Tianwen Lai, Dong Wu, Wen Li, Min Chen, Zhennan Yi, Dan Huang, Zhiliang Jing, Yingying Lü, Quanchao Lv, Dongming Li, Bin Wu
Scientific Reports.2016;[Epub] CrossRef
Elevated TGF-β1/IL-31 Pathway Is Associated with the Disease Severity of Hepatitis B Virus–Related Liver Cirrhosis
Desong Ming, Xueping Yu, Ruyi Guo, Yong Deng, Julan Li, Chengzu Lin, Milong Su, Zhenzhong Lin, Zhijun Su
Viral Immunology.2015; 28(4): 209. CrossRef
Interleukin-31 promotes helper T cell type-2 inflammation in children with allergic rhinitis
Wenlong Liu, Renzhong Luo, Yanqiu Chen, Changzhi Sun, Jie Wang, Lifeng Zhou, Yan Li, Li Deng
Pediatric Research.2015; 77(1): 20. CrossRef
The Transforming Growth Factor β1/Interleukin-31 Pathway Is Upregulated in Patients with Hepatitis B Virus-Related Acute-on-Chronic Liver Failure and Is Associated with Disease Severity and Survival
Xueping Yu, Ruyi Guo, Desong Ming, Yong Deng, Milong Su, Chengzu Lin, Julan Li, Zhenzhong Lin, Zhijun Su, R. L. Hodinka
Clinical and Vaccine Immunology.2015; 22(5): 484. CrossRef
NFAT1 and JunB Cooperatively Regulate IL-31 Gene Expression in CD4+ T Cells in Health and Disease
Ji Sun Hwang, Gi-Cheon Kim, EunBee Park, Jung-Eun Kim, Chang-Suk Chae, Won Hwang, Changhon Lee, Sung-Min Hwang, Hui Sun Wang, Chang-Duk Jun, Dipayan Rudra, Sin-Hyeog Im
The Journal of Immunology.2015; 194(4): 1963. CrossRef
Interleukin-31: A Novel Diagnostic Marker of Allergic Diseases
Anja Rabenhorst, Karin Hartmann
Current Allergy and Asthma Reports.2014;[Epub] CrossRef
Role of IL-31 in regulation of Th2 cytokine levels in patients with nasal polyps
Hong Ouyang, Jie Cheng, Yajun Zheng, Jingdong Du
European Archives of Oto-Rhino-Laryngology.2014; 271(10): 2703. CrossRef
Polymorphisms of interleukin-31 are associated with anti-CCP levels in females with rheumatoid arthritis
JI-IN YU, YOUNG-RAN PARK, SHIN-SEOK LEE, SOO-CHEON CHAE
Journal of Genetics.2014; 93(3): 813. CrossRef
IL-31 Associated with Coronary Artery Lesion Formation in Kawasaki Disease
Wan-Ning Tseng, Mao-Hung Lo, Mindy Ming-Huey Guo, Kai-Sheng Hsieh, Wei-Chiao Chang, Ho-Chang Kuo, Chien-Sheng Chen
PLoS ONE.2014; 9(8): e105195. CrossRef

TNF-α and TNF-β Polymorphisms are Associated with Susceptibility to Osteoarthritis in a Korean Population: Lin Han, Joo Hyoun Song, Jung Hwan Yoon, Yong Gyu Park, Suk Woo Lee, Yoo Jin Choi, Suk Woo Nam, Jung Young Lee, Won Sang Park; Korean J Pathol. 2012;46(1):30-37. Published online February 23, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.1.30

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Abstract PDF

Background

The tumor necrosis factor (TNF) is believed to play an important role in the pathophysiology of osteoarthritis (OA). Evidence shows that genetic polymorphisms make substantial contributions to the etiology of OA.

Methods

We investigated the genotypes TNF-α and TNF-β in 301 OA patients and 291 healthy subjects as controls. We employed a polymerase chain reaction-restriction fragment length polymorphism and a polymerase chain reaction-single strand conformation polymorphism assay to identify the genotypes TNFA -G308A and TNFB +G252A, respectively.

Results

For TNFA -G308A, the percentages of genotypes GG, AG, and AA were 26.3% (79/301), 62.5% (188/301), and 11.3% (34/301) in OA patients and 88.7% (258/291), 11.3% (33/291), and 0% (0/291) in controls. For TNFB +G252A, the percentages of genotypes GG, AG, and AA were 15.3% (46/301), 41.9% (126/301), and 42.9% (129/301) in OA patients and 12% (35/291), 52.6% (153/291), and 35.4% (103/291) in controls. There were significant differences in genotypes and alleles of TNFA -308 between OA patients and controls (p<0.0001) and in alleles of TNFB +252 (p=0.0325). The risk of OA was significantly higher for carriers of the TNFA -308A allele and the TNFB +252 AA homozygote (p=0.0224).

Conclusions

The results suggest close relationships between TNFA -G308A and TNFB +G252A polymorphisms and individual susceptibility to OA in the Korean population.

Citations

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Health benefits of astaxanthin against age-related diseases of multiple organs: A comprehensive review
Phaniendra Alugoju, V. K. D. Krishna Swamy, Naga Venkata Anusha Anthikapalli, Tewin Tencomnao
Critical Reviews in Food Science and Nutrition.2023; 63(31): 10709. CrossRef
Complete sequence and comparative analysis of the mitochondrial genome of the rare and endangered Clematis acerifolia, the first clematis mitogenome to provide new insights into the phylogenetic evolutionary status of the genus
Dan Liu, Kai Qu, Yangchen Yuan, Zhiheng Zhao, Ying Chen, Biao Han, Wei Li, Yousry A. El-Kassaby, Yangyang Yin, Xiaoman Xie, Boqiang Tong, Hongshan Liu
Frontiers in Genetics.2023;[Epub] CrossRef
Intra-articular Treatment with Triamcinolone Hexacetonide Associated with Gold Nanoparticles Reduces Cartilage Degeneration in an Animal Model of Osteoarthritis
Daniela Pacheco dos Santos Haupenthal, Marcus Barg Resmini, Leandro Almeida Da Silva, Mateus Cardoso Colares, Laura de Roch Casagrande, Ligia Milanez Venturini, Thiago Antônio Moretti de Andrade, Fernando Russo Costa do Bomfim, Anand Thirupathi, Paulo Emi
Current Drug Targets.2023; 24(3): 287. CrossRef
Vitamin D Receptor Gene Polymorphisms and Risk of Knee Osteoarthritis: Possible Correlations with TNF-α, Macrophage Migration Inhibitory Factor, and 25-Hydroxycholecalciferol Status
Mohammed H. Hassan, Amer Alkot Mostafa Elsadek, Marwa Ahmed Mahmoud, Bakheet E. M. Elsadek
Biochemical Genetics.2022; 60(2): 611. CrossRef
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Joel J. M. Gabrili, Isadora Maria Villas-Boas, Giselle Pidde, Carla Cristina Squaiella-Baptistão, Trent M. Woodruff, Denise V. Tambourgi
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Xin Zhang, Ming-Feng Hsueh, Janet L. Huebner, Virginia B. Kraus
Frontiers in Immunology.2021;[Epub] CrossRef
Genetic association between TNF-α G-308A and osteoarthritis in Asians: A case–control study and meta-analysis
Chih-Chien Wang, Chih-Yun Huang, Meng-Chang Lee, Dung-Jang Tsai, Chia-Chun Wu, Sui-Lung Su, Mingqing Xu
PLOS ONE.2021; 16(11): e0259561. CrossRef
Sex-, Age-, and Metabolic Disorder-Dependent Distributions of Selected Inflammatory Biomarkers among Community-Dwelling Adults
So Mi Jemma Cho, Hokyou Lee, Jee-Seon Shim, Hyeon Chang Kim
Diabetes & Metabolism Journal.2020; 44(5): 711. CrossRef
Tumor necrosis factor-α: Molecular assessment of gene expression, genetic variants and serum level in Egyptian patients with knee osteoarthritis
Nermin Raafat, Amal F. Gharib, Doaa S. Atta, Shimaa M. AbdElwahab, Doaa M. Sharaf
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Kaan Yerliyurt, Ayse Feyda Nursal, Akin Tekcan, Nevin Karakus, Mehmet K. Tumer, Serbulent Yigit
Journal of Clinical Laboratory Analysis.2019;[Epub] CrossRef
Interleukin-6 (-572) and Tumor Necrosis Factor α (-308 and -238) Polymorphisms and Risk of Knee Osteoarthritis in a Pakistani Population: A Case–Control Study
Syeda Kanwal Batool Naqvi, Maria Bibi, Iram Murtaza, Qamar Javed
Iranian Journal of Science and Technology, Transactions A: Science.2019; 43(4): 1485. CrossRef
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Jie Yang, Junhu Wang, Xiaojun Liang, Hongmou Zhao, Jun Lu, Qiang Ma, Feng Tian
Genetic Testing and Molecular Biomarkers.2019; 23(6): 380. CrossRef
Functional status and severity of osteoarthritis in elderly is associated to the polymorphism of TNFA gene
Marcos Tadeu Parron Fernandes, Karen Barros Parron Fernandes, Fernanda Freitas Anibal, Walquíria Shimoya-Bittencourt, Viviane Martins Santos, Priscila Daniele de Oliveira Perrucini, Regina Célia Poli-Frederico
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Association of TNF-α-308 G > A and −238G > A polymorphisms with knee osteoarthritis risk: A case-control study and meta-analysis
Mohammad Reza Sobhan, Masoud Mahdinezhad-Yazdi, Kazem Aghili, Masoud Zare-Shehneh, Shohreh Rastegar, Jalal Sadeghizadeh-Yazdi, Hossein Neamatzadeh
Journal of Orthopaedics.2018; 15(3): 747. CrossRef
Association between tumor necrosis factor alpha rs1800629 polymorphism and risk of osteoarthritis in a Chinese population
Jie Chen, Yu Wu, Jiannong Yu, Jinming Shen
Brazilian Journal of Medical and Biological Research.2018;[Epub] CrossRef
Association of cytokine gene polymorphisms with osteoarthritis susceptibility
Otilia Rogoveanu, Daniela Calina, Mihai Cucu, Florin Burada, Anca Docea, Simona Sosoi, Emilian Stefan, Mihai Ioana, Emilia Burada
Experimental and Therapeutic Medicine.2018;[Epub] CrossRef
TNF‑α increases the expression of inflammatory factors in synovial fibroblasts by inhibiting the PI3K/AKT pathway in a rat model of monosodium iodoacetate‑induced osteoarthritis
Hongxi Li, Shujuan Xie, Yunlong Qi, Huazhe Li, Rui Zhang, Yongyun Lian
Experimental and Therapeutic Medicine.2018;[Epub] CrossRef
The single-nucleotide polymorphism (SNP) of tumor necrosis factor α −308G/A gene is associated with early-onset primary knee osteoarthritis in an Egyptian female population
Sahar M. Abdel Galil, Nillie Ezzeldin, Faten Fawzy, Mohamed El-Boshy
Clinical Rheumatology.2017; 36(11): 2525. CrossRef
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Renhao Ze, Shangyu Wang, Mao Xie, Bo Zhang, Xin Tang, Jin Li
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Piotr Wojdasiewicz, Łukasz A. Poniatowski, Dariusz Szukiewicz
Mediators of Inflammation.2014; 2014: 1. CrossRef
Meta-analysis of tumor necrosis factor alpha -308 polymorphism and knee osteoarthritis risk
Suotang Kou, Yaochi Wu
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Wei-Ping Chen, Yan Xiong, Yong-Xiang Shi, Peng-Fei Hu, Jia-Peng Bao, Li-Dong Wu
International Immunopharmacology.2014; 19(1): 174. CrossRef
Variations in the TNFα gene and their interactions with the IL4R and IL10 genes in relation to hand osteoarthritis
Satu Hämäläinen, Svetlana Solovieva, Tapio Vehmas, Päivi Leino-Arjas, Ari Hirvonen
BMC Musculoskeletal Disorders.2014;[Epub] CrossRef
Tumor necrosis factor gene polymorphisms and endometriosis in Asians: a systematic review and meta-analysis
Jiangtao Lyu, Hua Yang, Jinghe Lang, Xianjie Tan
Chinese Medical Journal.2014; 127(9): 1761. CrossRef
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Bin Ji, Jixiang Shi, Xiangyu Cheng, Junjie Zhou, Qiang Zhou, Chengfu Cao, Jinhui Pang
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14-bp Insertion/Deletion Polymorphism of the HLA-G Gene in Osteosarcoma Patients.: Ahrim Moon, Su Kang Kim, Joo Ho Chung, Ki Yong Na, Liliana G Olvi, Eduardo Santini-Araujo, Youn Wha Kim, Yong Koo Park; Korean J Pathol. 2011;45(5):485-490.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.5.485

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Abstract PDF

BACKGROUND
The major histocompatibility complex class I, G (human leukocyte antigen-G [HLA-G]) gene plays a vital role in the suppression of immune responses. Recently, a number of studies have reported an association between HLA-G and diseases (pregnancy complications, organ transplantation, and tumors). Some of the studies have revealed that the 14-bp insertion/deletion polymorphism might be associated with various diseases. The aim of the present study was to explore a possible influence of the 14-bp insertion/deletion polymorphism on osteosarcoma.
METHODS
Genomic DNA was extracted from 75 formalin-fixed, paraffin-embedded tumor tissues derived from patients with conventional osteosarcoma (OSA) and 183 peripheral blood samples of healthy controls. Fifty-eight cases were South Korean patients with OSA and 17 cases were Argentine patients with OSA. The HLA-G 14-bp insertion/deletion polymorphism at exon 8 of the HLA-G locus was analyzed by polymerase chain reaction.
RESULTS
There was a significantly different distribution profile for the 14-bp genotypes between the Korean OSA and Korean control groups. Specifically, there were more heterozygote 210 bp/224 bp genotypes in the Korean OSA group when compared to the Korean control group (62.1% vs 40.4%, p=0.002).
CONCLUSIONS
The results suggest that HLA-G heterozygote patients may be more susceptible to OSA in the Korean population.

Citations

Citations to this article as recorded by

14-bp Insertion/Deletion Polymorphism of the HLA-G gene in Breast Cancer among Women from North Western Iran
Mehdi Haghi, Mohammad Ali Hosseinpour Feizi, Majid Sadeghizadeh, Abbas Sahebghadam Lotfi
Asian Pacific Journal of Cancer Prevention.2015; 16(14): 6155. CrossRef

Growth Differentiation Factor 5 (GDF5) Core Promoter Polymorphism Is Not Associated with Susceptibility to Osteoarthritis of the Knee in the Korean Population.: Zhang Cao, Hwa Sung Lee, Jae Hwi Song, Jeong Whan Yoon, Yong Kyu Park, Suk Woo Nam, Jung Young Lee, Won Sang Park; Korean J Pathol. 2010;44(4):404-409.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.4.404

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Abstract PDF

BACKGROUND
Osteoarthritis (OA) is a common disease characterized by degenerating joint cartilage in the knee, hip, and hand. A functional single nucleotide polymorphism (SNP) +104T/C; rs143383 in the 5' untranslated region of the growth differentiation factor 5 (GDF5) gene was recently associated with susceptibility to OA in the Japanese and Chinese populations.
METHODS
To investigate whether this association is present in the Korean population, the frequency of the polymorphism was investigated in 276 patients with knee OA and 298 healthy subjects as controls. Polymorphism analysis was performed by amplifying the core promoter region of the GDF5 gene and digesting it with the BsiEI restriction enzyme.
RESULTS
The frequency of the TT, CT, and CC genotypes was 54.3% (150/276), 41.7% (115/276), and 4.0% (11/276), respectively, in patients with OA, and 53.4% (159/298), 37.9% (113/298), and 8.7% (26/298), respectively, in healthy controls. No significant differences in genotypic or allelic frequencies of the +104T/C SNP of the GDF5 gene were observed between patients with OA and controls. Also, no significant differences in allelic and genotypic frequencies were found when the individuals were stratified by age and gender.
CONCLUSIONS
The results suggest that the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for OA in the Korean population.

Citations

Citations to this article as recorded by

The association of growth differentiation factor 5 rs143383 gene polymorphism with osteoarthritis: a systematic review and meta-analysis
Yue-peng Wang, Wen-jia Di, Su Yang, Shi-lei Qin, Yun-feng Xu, Peng-fei Han, Ke-dong Hou
Journal of Orthopaedic Surgery and Research.2023;[Epub] CrossRef
Correlation between growth differentiation factor 5 (rs143383) gene polymorphism and knee osteoarthritis: an updated systematic review and meta-analysis
Bin Jia, Yaping Jiang, Yingxing Xu, Yingzhen Wang, Tao Li
Journal of Orthopaedic Surgery and Research.2021;[Epub] CrossRef
Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis
Xin Huang, Weiyue Zhang, Zengwu Shao
BMC Medical Genetics.2018;[Epub] CrossRef
Association of BMP-14 rs143383 ploymorphism with its susceptibility to osteoarthritis
Yi Yin, Yan Wang
Medicine.2017; 96(42): e7447. CrossRef
Association between GDF5 +104T/C polymorphism and knee osteoarthritis in Caucasian and Asian populations: a meta-analysis based on case-control studies
Dong Jiang, Zengtao Hao, Dongsheng Fan, Wen Guo, Pengcheng Xu, Chao Yin, Shuzheng Wen, Jihong Wang
Journal of Orthopaedic Surgery and Research.2016;[Epub] CrossRef
A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand
Rui Zhang, Jianfeng Yao, Peng Xu, Baohu Ji, James V. Luck, Brian Chin, Shemin Lu, John R. Kelsoe, Jie Ma
Inflammation Research.2015; 64(6): 405. CrossRef
Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects
Feng Pan, Jing Tian, Tania Winzenberg, Changhai Ding, Graeme Jones
BMC Musculoskeletal Disorders.2014;[Epub] CrossRef
Association between the +104T/C polymorphism in the 5′UTR of GDF5 and susceptibility to knee osteoarthritis: A meta-analysis
SHAO-WEN HAO, QUN-HUA JIN
Molecular Medicine Reports.2013; 7(2): 485. CrossRef
A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population
Tulyapruek Tawonsawatruk, Theeraroj Changthong, Sarinee Pingsuthiwong, Objoon Trachoo, Thanyachai Sura, Wiwat Wajanavisit
Journal of Orthopaedic Surgery and Research.2011; 6(1): 47. CrossRef

Intron 1 Polymorphism, Mutation and the Protein Expression of Epidermal Growth Factor Receptor in Relation to the Gefitinib Sensitivity of Korean Lung Cancer Patients.: Mi Jin Kim, Kyeong Cheol Shin, Kwan Ho Lee; Korean J Pathol. 2009;43(6):509-516.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.6.509

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Abstract PDF: BACKGROUND
Epidermal growth factor receptor (EGFR) intron 1 polymorphism in non-small cell lung cancer (NSCLC) has been found to have therapeutic implications for the patients treated with EGFR tyrosine kinase inhibitors. However, its clinical significance as related to gefitinib responsiveness is still controversial. We examined CA repeat polymorphism in intron 1 of the EGFR gene and its relation with the EGFR gene mutation in NSCLC patients who were treated with gefitinib. METHODS: Sixty seven patients who were treated with gefitinib were analyzed for intron 1 polymorphism in the EGFR gene, the EGFR mutations and the EGFR protein expression. Two hundred twenty seven samples of NSCLC were analyzed for EGFR mutations. RESULTS: CA repeat was low in 27 patients (40.3%) and high in 40 (59.7%) patients. The response rate for gefitinib therapy was higher in the patient population with a low number of CA repeats in the EGFR gene (p=0.047) and in the patients with the mutated type of EGFR (p=0.048), though these two factors were not related. Thirty four patients (15.0%) harbored EGFR mutations. CONCLUSIONS: This study suggests that the intron 1 CA repeat polymorphism of the EGFR gene may serve as a predictor of the clinical outcome of NSCLC patients treated with gefitinib, and this without regard for EGFR mutation. Our data further supports the importance of EGFR mutations with regard to a distinct clinical profile and the prognostic implications for NSCLC patients.

eNOS Gene Polymorphisms in Perinatal Hypoxic-Ischemic Encephalopathy.: Min Cho, Kwang Sun Hyun, David Chanwook Chung, In Young Choi, Myeung Ju Kim, Young Pyo Chang; Korean J Pathol. 2009;43(4):306-311.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.4.306; Retraction in: J Pathol Transl Med 2019;53(5):345

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Molecular Diagnosis of Cutaneous T Cell Lymphoproliferative Diseases.: Ji Young Park, Myung Hoon Lee, Eun Kyung Kwak, Dong Ja Kim, Tae In Park, Han Ik Bae; Korean J Pathol. 2000;34(11):941-949.

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Abstract PDF: It is often problematic to diagnose T-cell lymphoproliferative disorders of the skin because of the difficulty in establishing clonality in paraffin-embedded tissue. We used polymerase chain reaction single strand conformational polymorphism (PCR-SSCP) and heteroduplex analysis in paraffin embedded tissue to detect clonal rearrangement of T-cell receptor gamma (TCRgamma) gene in 17 T-cell lymphoproliferative disorders and 6 atypical lymphoproliferative diseases. We used polymerase chain reaction to detect TCR beta gene rearrangement in 8 of 17 cases which did not show TCRgamma gene rearrangement. Jurkat cell lines were used as monoclonal controls. DNA was extracted from 5 biopsies of T-cell lymphomas, 10 biopsies of mycosis fungoides, 2 biopsies of lymphomatoid papulosis, and 6 biopsies of atypical lymphoproliferative lesions. We detected monoclonality in 5 of 5 T-cell lymphoma cases, 2 of 2 lymphomatoid papulosis cases, 6 of 10 mycosis fungoides cases, and 2 of 6 atypical lymphoproliferative disease cases. We conclude that nonradioactive PCR-SSCP for TCR gene rearrangement analysis is a useful adjunct to routine histological and immunophenotypic methods in the diagnosis of cutaneous T cell lymphoproliferative disorders in paraffin embedded tissue.

Absence of TaqI Polymorphism in Exons of Complement Component C9 Gene in Koreans.: Seoyoung Han, Sang Ho Kim; Korean J Pathol. 2001;35(3):185-188.

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Abstract PDF: BACKGROUND
Molecular and genetic studies of the complement component C9 have never been reported in Korea.
METHODS
We have checked the TaqI polymorphism of the C9 gene in 52 randomly selected adult Koreans. Southern blot analysis was carried out to detect the restriction fragment length polymorphism (RFLP) of the C9 gene. The fragments of human C9 cDNA were hybridized with the TaqI digested genomic DNA.
RESULTS
The functional levels of complements in all subjects were measured at 84.4+/-3.8% by hemolytic assay, which indicates that the subjects have functionally normal complement systems. Fifty-four percent of the individuals were found to have the C9 genes that contain the constant fragments only. It seems that the undetected TaqI site may be located in the intron of the C9 gene. The silent mutation of C->T transversion was found in exon 1 of the C9 gene through polymerase chain reaction-single strand conformational polymorphism, but no mutation was found in exon 4 of the C9 gene.
CONCLUSIONS
We could not find TaqI polymorphism in exons of the C9 gene in 52 Koreans.

An Analysis for Angiotensin Converting Enzyme Gene Polymorphism in Formalin-fixed, Paraffin-embedded Tissues from Patients with Sarcoidosis.: Tae Sook Kim, Hee Yeon Hong, In chul Lee; Korean J Pathol. 2003;37(4):225-231.

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Abstract PDF: BACKGROUND
Sarcoidosis is a systemic disease characterized by nonnecrotizing granulomas involving the lung and hilar lymph nodes. Serum angiotensin converting enzyme (sACE) levelsin patients with sarcoidosis have been implicated as an indicator of granuloma burden.Recently, it has been found that ACE gene insertion/deletion (ID) polymorphism affects sACE levels in healthy individuals. Moreover, reported sACE levels were highest in the deletion/deletion(DD) genotype. Previous studies to investigate the distribution of ACE genotypes accordingto ethnic groups have revealed various results and have caused controversy.
METHODS
Polymerase chain reactions were performed to determine the ACE genotypes in fifteen formalinfixed, paraffin-embedded tissues from patients with sarcoidosis.
RESULTS
The distribution of ACE gene (I/D) polymorphism in patients with sarcoidosis was significantly different from that in normal controls. The DD genotype was more frequent in patients with sarcoidosis than in thenormal controls. The D allele frequency was also higher in patients with sarcoidosis than in thenormal controls. The relative risk of sarcoidosis was higher in DD homozygotes.
CONCLUSIONS
These results suggested the ACE gene I/D polymorphism may play an important rolein the pathogenesis and progression of sarcoidosis.

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