Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a <scp>C</scp>hinese <scp>H</scp>an population

Yang, Jing; Zhou, Haixia; Liang, Bing; Xiao, Jun; Su, Zhiguang; Chen, Hong; Ma, Chunlan; Li, Dengxue; Feng, Yu; Ou, Xuemei

doi:10.1111/resp.12212

Cited by 7 publications

(6 citation statements)

References 36 publications

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“…RAGE might have physiological roles in the lung, and polymorphisms in AGER can be associated with lung diseases [56, 57]. A study reported that SNP in AGER was associated with pulmonary function in a Chinese Han population [58]. Many GWA studies had associated this locus with lung function and with COPD susceptibility [54, 59].…”

Section: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

confidence: 99%

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Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

et al. 2019

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The receptor for advanced glycation end-products (RAGE) is a cell surface transmembrane multiligand receptor, encoded by the AGER gene. RAGE presents many transcripts, is expressed mainly in the lung, and involves multiple pathways (such as NFκB, Akt, p38, and MAP kinases) that initiate and perpetuate an unfavorable proinflammatory state. Due to these numerous functional activities, RAGE is implicated in multiple diseases. AGER is a highly polymorphic gene, with polymorphisms or SNP (single-nucleotide polymorphism) that could be responsible or co-responsible for disease development. This review was designed to shed light on the pathological implications of AGER polymorphisms. Five polymorphisms are described: rs2070600, rs1800624, rs1800625, rs184003, and a 63 bp deletion. The rs2070600 SNP may be associated with the development of human autoimmune disease, diabetes complications, cancer, and lung diseases such as chronic obstructive pulmonary disease and acute respiratory distress syndrome. The rs1800624 SNP involves AGER gene regulation and may be related to reduced risk of heart disease, cancer, Crohn’s disease, and type 1 diabetes complications. The rs1800625 SNP may be associated with the development of diabetic retinopathy, cancer, and lupus but may be protective against cardiovascular risk. The rs184003 SNP seems related to coronary artery disease, breast cancer, and diabetes. The 63 bp deletion may be associated with reduced survival from heart diseases during diabetic nephropathy. Here, these potential associations between AGER polymorphisms and the development of diseases are discussed, as there have been conflicting findings on the pathological impact of AGER SNPs in the literature. These contradictory results might be explained by distinct AGER SNP frequencies depending on ethnicity.

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Section: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

confidence: 99%

“…Moreover, rs2070600 was also associated with COPD in a Chinese population. The rs2070600 SNP associated with COPD-related pulmonary function might involve an exacerbated inflammatory response in the lung [58]. The rs2070600 SNP was also associated with circulating sRAGE levels.…”

Section: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

confidence: 99%

Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

et al. 2019

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“…Through GWAS, TNS1 has been identified as one of highly susceptible genes for mitral valve prolapse (MVP) (Dina et al, 2015), lung function (Panasevich et al, 2013;Repapi et al, 2010), chronic obstructive lung disease (COPD) (Artigas et al, 2011;Yang et al, 2014) and asthma with hay fever phenotype (Ferreira et al, 2014). The involvement of TNS1 in MVP has been demonstrated in zebrafish and mouse-knockout models (Dina et al, 2015).…”

Section: Tensins In Human Diseasesmentioning

confidence: 99%

Tensins – emerging insights into their domain functions, biological roles and disease relevance

Liao

2021

Journal of Cell Science

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Tensins are a family of focal adhesion proteins consisting of four members in mammals (TNS1, TNS2, TNS3 and TNS4). Their multiple domains and activities contribute to the molecular linkage between the extracellular matrix and cytoskeletal networks, as well as mediating signal transduction pathways, leading to a variety of physiological processes, including cell proliferation, attachment, migration and mechanical sensing in a cell. Tensins are required for maintaining normal tissue structures and functions, especially in the kidney and heart, as well as in muscle regeneration, in animals. This Review discusses our current understanding of the domain functions and biological roles of tensins in cells and mice, as well as highlighting their relevance to human diseases.

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“…A recent study by Yang et al . assessed these regions in the Chinese Han population and found that the single nucleotide polymorphism (SNP) (rs3995090) in 5‐hydroxytryptamine receptor‐4 was associated with COPD in never‐smokers, and the SNP (rs2070600) in advanced glycation end‐products receptor was associated with pulmonary function (forced expiratory volume in 1 s (FEV 1 ) % predicted and FEV 1 /forced vital capacity (FVC) ratio) …”

Section: Chronic Obstructive Pulmonary Diseasementioning

confidence: 99%

Year in review 2014: Chronic obstructive pulmonary disease, asthma and airway biology

Lim

Thomas

et al. 2015

Respirology

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Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a Chinese Han population

Abstract: The variant at HTR4 was associated with COPD in never-smokers, and the SNP in AGER was associated with pulmonary function in a Chinese Han population.

Cited by 7 publications

References 36 publications

Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

Tensins – emerging insights into their domain functions, biological roles and disease relevance

Year in review 2014: Chronic obstructive pulmonary disease, asthma and airway biology

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