02916nas a2200457   4500000000100000008004100001260001700042653001500059653001000074653000900084653002200093653002500115653001000140653001300150653002100163653001800184653004000202653001100242653001900253653003800272653001300310653001500323653001100338653001900349653001200368653000900380653001600389653002500405653003600430653003000466653001600496100002100512700002400533700001200557700002100569245008400590300000900674490000700683520175400690022001402444       2012                            d  c2012 Jan-Mar10aAdolescent10aAdult10aAged10aAged, 80 and over10aCase-Control Studies10aChild10aColombia10aEndemic Diseases10aEthnic Groups10aEuropean Continental Ancestry Group10aFemale10aGene Frequency10aGenetic Predisposition to Disease10agenotype10aHaplotypes10aHumans10aInterleukin-1010aleprosy10aMale10aMiddle Aged10aMycobacterium leprae10aPolymorphism, Single Nucleotide10aPromoter Regions, Genetic10aYoung Adult1 aCardona-Castro N1 aSánchez-Jiménez M1 aRojas W1 aBedoya-Berrío G00aIL-10 gene promoter polymorphisms and leprosy in a Colombian population sample.  a71-60 v323 a<p><b>INTRODUCTION: </b>Polymorphisms in promoters of genes code for cytokines that affect transcription levels. Several have been associated with leprosy patients that have functional and clinical implications.</p><p><b>OBJECTIVE: </b>Polymorphisms in the promoter of the IL10 gene of leprosy patients will be compared frequencies in normal population.</p><p><b>MATERIALS AND METHODS: </b>SNPs (single nucleotide polymorphism) -1082 A/G (rs1800896), -819C/T (rs1800871), and -592A/C (rs1800872) were identified in 100 leprosy patients and in a control group of 100 volunteers from a leprosy endemic region of Colombia.</p><p><b>RESULTS: </b>The genotypes C/C and C/T in the SNP -819 were associated together with leprosy (OR=4.34, p<0.001).Similarly, the genotypes C/C and C/A in the -592 SNP showed an association (OR=4.3, p<0.001). The haplotypes -819C-519C and -1082A-819C-592C showed significant association (OR=4.34, p<0.001 and OR=6.25, p<0.001) respectively. These haplotypes in homozygosis conditions were also associated with leprosy: -819C-519C/-819C-519C (OR=4.34, p<0.001), -1082A -819C-592C/-1082A -819C-592C (OR=1.90, p=0.04). The SNP -1082 was not associated with leprosy in this population.</p><p><b>CONCLUSIONS: </b>The haplotypes associated with leprosy, -1082A-819C-592C/-1082A-819C-592C, have been reported as low producers of IL-10. Functionally, the low production of IL-10 may have immune response consequences and clinical implications. Additional haplotypes of IL-10 have been reported as markers for leprosy susceptibility or resistance in other ethnic populations. This suggests that differences in distribution of diverse IL-10 gene polymorphisms among ethnic groups may indicate important gene-disease associations.</p>  a0120-4157