Interaction of prenatal maternal smoking, interleukin 13 genetic variants and DNA methylation influencing airflow and airway reactivity

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• 作者：Veeresh K Patil (1) (2)
  John W Holloway (2) (3)
  Hongmei Zhang (4)
  Nelis Soto-Ramirez (4)
  Susan Ewart (5)
  S Hasan Arshad (1) (2)
  Wilfried Karmaus (4)
  
• 关键词：Asthma genetics and epigenetics ; Airway reactivity ; DNA methylation ; IL13 gene ; Lung functions ; Maternal smoking during pregnancy
• 刊名：Clinical Epigenetics
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：5
• 期：1
• 全文大小：251 KB
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• 作者单位：Veeresh K Patil (1) (2)
  John W Holloway (2) (3)
  Hongmei Zhang (4)
  Nelis Soto-Ramirez (4)
  Susan Ewart (5)
  S Hasan Arshad (1) (2)
  Wilfried Karmaus (4)
  
  1. David Hide Asthma and Allergy Research Centre, St Mary’s Hospital, Newport, Isle of Wight, PO30 5TG, UK
  2. Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK
  3. Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK
  4. Division of Epidemiology, Biostatistics, & Environmental Health, School of Public Health, University of Memphis, Memphis, TN, USA
  5. Department of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, USA
  
• ISSN：1868-7083

文摘

Background Asthma is characterized by airflow limitation and airway reactivity (AR). Interleukin-13 (IL-13) is involved in the pathogenesis of asthma. Two functional SNPs, rs20541 and rs1800925, of the IL-13 gene (IL13) have been frequently associated with asthma-related lung functions. However, genetic variation alone does not fully explain asthma risk. DNA-methylation (DNA-M) is an epigenetic mechanism that regulates gene expression and can be influenced by both environment and genetic variants. To explore the interplay of prenatal maternal smoking, genetic variants and DNA-M, we used a two-stage model: (1) identifying cytosine phosphate guanine (CpG) sites where DNA-M is influenced by the interaction between genetic variants and maternal smoking during pregnancy (conditional methQTL (methylation quantitative trait loci)); and (2) determining the effect of the interaction between DNA-M of CpG (from stage 1) and SNPs (modifying genetic variants; modGV) on airflow limitation and AR in 245 female participants of the Isle of Wight birth cohort. DNA-M was assessed using the Illumina Infinium HumanMethylation450 BeadChip. Findings Six CpG sites were analyzed in stage 1. DNA-M at cg13566430 was influenced by interaction of maternal smoking during pregnancy and rs20541. In stage 2, genotype at rs1800925 interacted with DNA-M at cg13566430 significantly affecting airflow limitation (P--.042) and AR (P--.01). Conclusion Both genetic variants and environment affect DNA-M. This study supports the proposed two-stage model (methQTL and modGV) to study genetic variants, environment and DNA-M interactions in asthma-related lung function.