Association of CYP27B1 promoter gene variants of vitamin D pathway with pulmonary tuberculosis and vitamin D levels.

Publication date: Jul 08, 2025

Cyp27b1 polymorphisms are stated to be associated with different diseases including tuberculosis (TB). Since the gene variants located in the promoter region may have a significant influence on gene transcription/translation and Cyp27b1 enzyme is involved in critical steps in vitamin D metabolism, we aim to study whether Cyp27b1 gene promoter variants namely -1077 (C/G), -1260 (C/A) and the region immediately 5′ to the promoter -1918 (C/T) have any linkage with pulmonary tuberculosis risk/defence and to determine their influence on vitamin D level in normal healthy controls (HCs) and pulmonary tuberculosis (PTB) patients of the South Indian population. The polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method were used to genotype the genomic DNA after it was extracted using the salting-out approach. The Enzyme-Linked Immunosorbent Assay (ELISA) was used to measure the amount of vitamin D. In the co-dominant model, a significant association was detected with TB liability in the -1077 “GG” genotype [Odds ratio (OR): 2. 10(1. 18-3. 73); p = 0. 015]. In addition, a noteworthy linkage was detected with TB protection in the dominant model [GG vs CG + CC, OR: 0. 40(0. 21-0. 75); p = 0. 0035]. In the -1918 (C/T) variant, a substantial linkage was detected in the heterozygous -1918 “CT” genotype with TB risk [OR: 1. 90 (1. 05-3. 44); p = 0. 046] in co-dominant model, whereas a protective linkage was detected in less recurrent “TT” genotype [OR: 0. 42 (0. 19-0. 94); p = 0. 049] with TB. Furthermore, those risky genotypes are substantially linked with more TB risk in males than females. Strong links between -1077 and -1260 variations were revealed by haplotype analysis, and its haplotypes “GC” (-1077G, -1260C) were found to be significantly associated with increased TB risk. Vitamin D deficiency (

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