Resumo

LEMA, Diego et al. 5-HTT intron 2 and MUC7 variable number of tandem repeats polymorphisms in a Venezuelan population with asthma or COPD. Invest. clín [online]. 2017, vol.58, n.2, pp.140-153. ISSN 0535-5133.

Asthma and Chronic Obstructive Pulmonary Disease (COPD) are chronic inflammatory diseases. Both entities are characterized by bronchoconstriction, production of inflammatory mediators, mucus hypersecretion and inflammatory cell migration. Serotonin has immunomodulatory properties facilitating bronchoconstriction and its plasma concentration is transporter dependent (5-HTT). Mucins are glycoproteins involved in local innate immunity. The aim of this study was to assess the association between the variable number of tandem repeat polymorphisms (VNTR) of intron 2 of the serotonin ransporter (5-HTT) (STin2) and MUC7 in Venezuelan asthmatic or COPD patients. The group consisted of 301 individuals (102 asthmatics, 99 with COPD and 100 controls). There were no differences in the frequencies of MUC7 polymorphisms among the groups. However, there is a significant association between some alleles and genotypes with the presence of asthma or COPD (p <0.001). The STin2.9 allele had an odds ratio (OR) of 0.15 (p=0.16) in patients with asthma, while in patients with COPD, the STin2.10/10 and 10/12 genotypes had 0.33 (p=0,002) and 3.64 (p=0,002) OR, respectively. Regarding haplotypes, the STin2/ MUC7 10/10-6/6 is related to asthma risk (OR = 1.6, p=0.02) and COPD protection (OR=0.3, p=0.006) and 10/12-6/6 (OR=3.7, p=0.002), is a risk factor for COPD. In conclusion, in the Venezuelan population STin2 polymorphisms are important to define disease risk factor and consequently, the serotonin transporter is relevant to both pathologies.

Palavras-chave : asthma; COPD; serotonin transporter; mucins; STin2; MUC7; VNTR.

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