Tuberculosis (TB) poses an important health challenge and a significant economic burden for Kazakhstan and in Central Asia. Recent findings show a number of immunological related processes and host Mycobacterium tuberculosis defense are impacted by a variety of genes of the human host including those that play a part in the vitamin D metabolism. We investigated the genetic variation of genes in the vitamin D metabolic pathway of a cohort 50 TB cases in Kazakhstan and compared them to 34 controls living in the same household with someone infected with TB. We specifically analyzed 11 SNPs belonging to the following genes: DHCR7, CYP2R1, GC-1, CYP24A1, CYP27A1, CYP27B1, VDR and TNFα. These genes play a number of different roles including synthesis, activation, delivery and binding of the activated vitamin D. Our preliminary results indicate significant association of VDR (vitamin D receptor) SNPs (rs1544410, BsmI, with OR = 0.425, CI 0.221-0.816, p = 0.009 and rs731236, TaqI with OR = 0.443, CI 0.228-0.859, p = 0.015) and CYP24A1 (rs6013897 with OR = 0.436, CI 0.191-0.996, p = 0.045) with TB. Interaction of genetic variation of VDR and CYP24A1 may impact susceptibility to TB. The findings provided initial clues to understand individual genetic differences in relation to susceptibility and protection to TB.

中文翻译：

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哈萨克斯坦维生素D途径的遗传变异与结核病易感性的关系。

结核病（TB）给哈萨克斯坦和中亚带来了重要的健康挑战和巨大的经济负担。最近的发现表明，许多免疫学相关过程和宿主结核分枝杆菌的防御受到人类宿主的多种基因的影响，包括在维生素D代谢中起作用的那些基因。我们调查了哈萨克斯坦50 TB队列人群维生素D代谢途径中基因的遗传变异，并将其与与感染TB的同一家庭中的34名对照进行了比较。我们专门分析了属于以下基因的11个SNP：DHCR7，CYP2R1，GC-1，CYP24A1，CYP27A1，CYP27B1，VDR和TNFα。这些基因发挥了许多不同的作用，包括合成，激活，递送和结合维生素D。我们的初步结果表明VDR（维生素D受体）SNP之间存在显着关联（rs1544410，BsmI，OR = 0.425，CI 0.221-0.816，p = 0.009和rs731236，TaqI，OR = 0.443，CI 0.228-0.859，p = 0.015） CYP24A1（rs6013897，OR = 0.436，CI为0.191-0.996，p = 0.045）与TB。VDR和CYP24A1遗传变异的相互作用可能影响对TB的易感性。这些发现提供了初步的线索，以了解与结核病易感性和保护相关的个体遗传差异。