02330nas a2200277   4500000000100000008004100001260001200042100001400054700001200068700001700080700001500097700001400112700001200126700001300138700001300151700001000164700001300174700001300187700001500200245013200215856006800347300001200415490000800427520160300435022001402038       2022                            d  c01/20221 aGermano G1 aBraga A1 ade Camargo R1 aBallalai P1 aBezerra O1 aManta F1 aBelone A1 aSoares C1 aDas P1 aMoraes M1 aLatini A1 ade Souza V00aAssociation of CD209 (DC-SIGN) rs735240 SNV with paucibacillary leprosy in the Brazilian population and its functional effects.  uhttps://www.scielo.br/j/mioc/a/CYfcGKTTyLxLmcJ9SXsVM6g/?lang=en  ae2200140 v1173 a<p><strong>BACKGROUND: </strong>Leprosy, caused by Mycobacterium leprae, is a public health problem in Brazil that affects peripheral nerves, resulting in physical disabilities. During host-pathogen interactions, the immune response determines leprosy outcomes from a localised (paucibacillary) form to a disseminated (multibacillary) form. The recognition of M. leprae involves the DC-SIGN receptor, which is present on the dendritic cells (DCs) and participates in immune activation.</p>

<p><strong>OBJECTIVES: </strong>To evaluate the association of polymorphisms in the promoter region of the gene encoding DC-SIGN (CD209) and the clinical form of leprosy, and to investigate its functional effects.</p>

<p><strong>METHODS: </strong>The study population included 406 leprosy patients from an endemic area in Brazil [310 multibacillary (MB); 96 paucibacillary (PB)]. A functional evaluation based on the effects of the single nucleotide variant (SNV) associated with PB leprosy on the specific immune response was also performed.</p>

<p><strong>RESULTS: </strong>The GA genotype and the presence of the A allele of rs735240 (-939G&gt;A) were associated with PB leprosy [OR: 2.09 (1.18-3.69) and 1.84 (1.07-3.14), respectively]. Carriers of the A allele showed reduced expression of CD209 and TGF-β1 in leprosy lesions in comparison with individuals with GG genotype, in addition to a higher response to the Mitsuda test.</p>

<p><strong>CONCLUSION: </strong>These data suggest that rs735240 influences the immune response against M. leprae and clinical presentation of leprosy.</p>
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