01870nas a2200277   4500000000100000008004100001100001100042700001000053700001000063700001000073700000900083700001200092700000900104700001000113700001200123700001100135700000900146700001200155700001200167245009700179856005400276300001000330490000600340520123200346022001401578       2017                            d1 aYuan Y1 aYou Y1 aWen Y1 aLiu J1 aLi H1 aZhang Y1 aWu N1 aLiu S1 aZhang S1 aChen J1 aAi J1 aZhang W1 aZhang Y00aIdentification of novel genetic loci GAL3ST4 and CHGB involved in susceptibility to leprosy.  uhttp://www.nature.com/articles/s41598-017-16422-1  a163520 v73 a<p>Leprosy has long been thought to have a strong genetic component, and so far, only positional cloning and genomewide association studies have been used to study the genetic susceptibility to leprosy,while whole exome sequencing (WES) approach has not yet been applied. In this study, we used WES approach on four leprosy patients and four healthy control relatives from two leprosy families. We found three new susceptible loci of leprosy, one in GAL3ST4 and two in CHGB. We went on to validate the findings of WES using 151 leprosy cases and 226 healthy controls by Sanger sequencing. Stratified by gender, GAL3ST4 was found to be the susceptible gene only for the female population, and CHGB48 and CHGB23 were susceptibile to leprosy for the male population, respectively). Moreover, the gene expression levels of the three susceptible loci were measured by real-time PCR after the stimulation by M. leprae antigens in the PBMC (peripheral blood mononuclear cells) of 69 healthy people. The results showed that the female subjects with high frequent genotype in GAL3ST4 had a fivefold elevated expression. We suggest the polymorphisms in GAL3ST4 in different population are associated with increased risk of leprosy.</p>
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