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Influence of SIGLEC9 polymorphisms on COPD phenotypes including exacerbation frequency

Takeo Ishii1,2, Takashi Angata3,4, Emily S Wan5,6

  • 1Respiratory Care Clinic, Nippon Medical School, Tokyo, Japan.

Respirology (Carlton, Vic.)
|November 24, 2016
PubMed
Abstract

Insights

Genetic variations in SIGLEC9 are linked to more frequent exacerbations and emphysema in COPD patients. A specific SIGLEC9 haplotype may increase the risk of developing emphysema due to reduced anti-inflammatory function.

Area of Science:

  • Immunology
  • Pulmonology
  • Genetics

Background:

  • COPD exacerbations significantly impact patient quality of life and disease progression.
  • Previous research linked a lack of Siglec-14 to reduced COPD exacerbation frequency.
  • SIGLEC9 gene variations were investigated for their potential role in COPD exacerbation phenotypes.

Purpose of the Study:

  • To investigate the association between SIGLEC9 gene polymorphisms and the exacerbation-prone phenotype in COPD patients.
  • To analyze the correlation between SIGLEC9 genotypes and COPD severity, including airflow obstruction and emphysema.
  • To assess the functional impact of SIGLEC9 coding single nucleotide polymorphisms (cSNPs) on Siglec-9 protein activity.

Main Methods:

  • Examined SIGLEC9 polymorphisms in 135 COPD subjects for exacerbation frequency.
  • Correlated genotypes with airflow obstruction and emphysema severity in 362 Japanese smokers (244 with COPD).
  • Assessed SNP associations with COPD phenotypes in a Caucasian cohort (ECLIPSE study) and analyzed cSNP effects in vitro.

Main Results:

  • The SIGLEC9 rs2075803 G allele and the rs2075803 G/rs2258983 A haplotype were associated with increased COPD exacerbations and emphysema extent.
  • These findings did not replicate in the Caucasian ECLIPSE study cohort.
  • In vitro, a Siglec-9 variant (GA haplotype) showed increased TNF-α production compared to other major haplotypes.

Conclusions:

  • The SIGLEC9 rs2075803 G/rs2258983 A haplotype may represent a risk factor for emphysema development.
  • This haplotype corresponds to a Siglec-9 variant with diminished capacity to suppress inflammatory responses.
  • Further research is needed to validate these findings across diverse populations.
Keywords:
chronic obstructive pulmonary diseaseemphysemageneticsin vitro assaysinfection and inflammation

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