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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
Summary
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 inflammationMore Related Videos
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