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      Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population

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          It is known that the contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. Further, previous studies involving various ethnic groups have revealed associations between COPD and genetic polymorphisms in families with sequence similarity 13, member A ( FAM13A), micro-RNA 2054 ( MIR2054), SET domain containing protein 7 ( SETD7), ring finger protein 150 ( RNF150), hedgehog interacting protein ( HHIP), and vascular endothelial growth factor A ( VEGFA). Our objective was to explore the association between these gene polymorphism and COPD in members of Chinese Li minority population.

          Materials and methods

          The Chinese Li population case–control study was conducted to assess genetic associations with COPD risk. Seven single nucleotide polymorphisms (SNPs) located on chromosome 4, including FAM13A, MIR2054, SETD7, RNF150, and HHIP, and nine SNPs in the VEGFA gene were genotyped among 234 cases and 240 controls using Sequenom Mass-ARRAY ® platform. Linkage disequilibrium (LD) analysis was performed using Haploview software and the associations of the SNP frequencies with COPD were analyzed using chi-square ( χ 2) tests, genetic models analysis, and haplotype analysis.


          By χ 2 we found the minor allele “G” of rs17050782 was with increased COPD risk in allele model. In genetic models, we found the minor allele of rs7671167 ( P=0.028 by dominant model) and rs17050782 ( P=0.008 by recessive model) was associated with the increased risk of COPD disease. Likewise, an increased risk of developing COPD was associated with the “GGCGC” haplotype of VEGFA (odds ratio =1.48, 95% confidence interval =1.02–2.12, P=0.037).


          Our results were the first time to reveal that SNPs from FAM13A (rs7671167), SETD7 (rs17050782), and a haplotype of VEGFA (“GGCGC”) are potential susceptibility loci associated with increased COPD risk in Chinese Li minority population.

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          Most cited references 17

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          Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. NHLBI/WHO Global Initiative for Chronic Obstructive Lung Disease (GOLD) Workshop summary.

           ,  Suzanne Hurd,  P Calverley (2001)
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            High-throughput oncogene mutation profiling in human cancer.

            Systematic efforts are underway to decipher the genetic changes associated with tumor initiation and progression. However, widespread clinical application of this information is hampered by an inability to identify critical genetic events across the spectrum of human tumors with adequate sensitivity and scalability. Here, we have adapted high-throughput genotyping to query 238 known oncogene mutations across 1,000 human tumor samples. This approach established robust mutation distributions spanning 17 cancer types. Of 17 oncogenes analyzed, we found 14 to be mutated at least once, and 298 (30%) samples carried at least one mutation. Moreover, we identified previously unrecognized oncogene mutations in several tumor types and observed an unexpectedly high number of co-occurring mutations. These results offer a new dimension in tumor genetics, where mutations involving multiple cancer genes may be interrogated simultaneously and in 'real time' to guide cancer classification and rational therapeutic intervention.
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              Statistics notes. The odds ratio.


                Author and article information

                Int J Chron Obstruct Pulmon Dis
                Int J Chron Obstruct Pulmon Dis
                International Journal of COPD
                International Journal of Chronic Obstructive Pulmonary Disease
                Dove Medical Press
                27 July 2015
                : 10
                : 1455-1463
                [1 ]Department of Emergency, People’s Hospital of Hainan Province, Haikou, Hainan, People’s Republic of China
                [2 ]Department of Respiratory and Critical Care Medicine, Tongji Hospital, Key Laboratory of Pulmonary Diseases of Health Ministry, Tongji Medical College, Wuhan, Hainan, People’s Republic of China
                [3 ]Department of Science and Technology, Huazhong University, Wuhan, Hainan, People’s Republic of China
                [4 ]School of Life Sciences, Northwest University, Xi’an, Hainan, People’s Republic of China
                [5 ]Department of Respiration Emergency, The Third People’s Hospital of Haikou, Haikou, Hainan, People’s Republic of China
                Author notes
                Correspondence: Yipeng Ding, Department of Emergency, People’s Hospital of Hainan Province, #19, Xiuhua Road, Haikou 570102, Hainan, People’s Republic of China, Tel/fax +86 898 6622 2502, Email yipengdingpro@
                Tianbo Jin, School of Life Sciences, Northwest University, 386, #229 North Taibai Road, Xi’an 710069, Shaanxi, People’s Republic of China, Tel/fax +86 29 8830 2831, Email tianbojinprofessor@

                These authors contributed equally to this work

                © 2015 Ding et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License

                The full terms of the License are available at Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

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