RGD Reference Report - Association of serotonin transporter gene variation with smoking, chronic obstructive pulmonary disease, and its depressive symptoms. - Rat Genome Database

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Association of serotonin transporter gene variation with smoking, chronic obstructive pulmonary disease, and its depressive symptoms.

Authors: Ishii, T  Wakabayashi, R  Kurosaki, H  Gemma, A  Kida, K 
Citation: Ishii T, etal., J Hum Genet. 2010 Oct 28.
RGD ID: 4889426
Pubmed: PMID:20981038   (View Abstract at PubMed)
DOI: DOI:10.1038/jhg.2010.133   (Journal Full-text)

A serotonin transporter gene, SLC6A4, is thought to be related to nicotine dependence and depression, one of the comorbidities of chronic obstructive pulmonary disease (COPD). To investigate the association between SLC6A4 variation and tobacco consumption, susceptibility to COPD, and depression status. In all, 247 patients with COPD and 119 control subjects were genotyped for 5 tag single-nucleotide polymorphisms (SNPs) of SLC6A4. We analyzed the correlation between these genotypes and COPD, using the results of a pulmonary function test or chest computed tomography; data on tobacco consumption (pack-years); and the depression score based on the hospital anxiety and depression scale (HADS) after adjusting for age, gender, and smoking status (and pack-years, when appropriate). The rare allele rs2020936 was significantly associated with COPD incidence in the trend model (P=0.003; odds ratio, 2.20; 95% confidence interval, 1.31-3.74). This allele was also associated with the number of pack-years (P=0.026). The major allele of another SNP of SLC6A4, namely rs3794808, correlated with the HADS depression score (P=0.016). We conclude that SLC6A4 variation affects COPD pathogenesis, and this effect depends partly on tobacco consumption. SLC6A4 variation also affects depressive symptoms. SLC6A4 could be modified to prevent COPD and treat the depressive symptoms of COPD.Journal of Human Genetics advance online publication, 28 October 2010; doi:10.1038/jhg.2010.133.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
chronic obstructive pulmonary disease susceptibilityIAGP 4889426DNA:SNP: :rs2020936 (human)RGD 
chronic obstructive pulmonary disease susceptibilityISOSLC6A4 (Homo sapiens)4889426; 4889426DNA:SNP: :rs2020936 (human)RGD 
depressive disorder  IAGP 4889426associated with Pulmonary Disease more ...RGD 
depressive disorder  ISOSLC6A4 (Homo sapiens)4889426; 4889426associated with Pulmonary Disease more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc6a4  (solute carrier family 6 member 4)

Genes (Mus musculus)
Slc6a4  (solute carrier family 6 (neurotransmitter transporter, serotonin), member 4)

Genes (Homo sapiens)
SLC6A4  (solute carrier family 6 member 4)


Additional Information