# LncRNA C5orf64 polymorphisms (rs12518552 and rs2950218) decreases pulmonary tuberculosis susceptibility

**Authors:** Shilin Xu, Baoping Hu, Dongfeng Zhang, Jing Wang, Xue He, Yongjun He, Yuhe Wang

PMC · DOI: 10.1080/07853890.2025.2523557 · 2025-06-28

## TL;DR

This study shows that specific genetic variations in the C5orf64 gene are linked to a lower risk of developing pulmonary tuberculosis.

## Contribution

The study identifies two C5orf64 polymorphisms (rs12518552 and rs2950218) as protective against pulmonary tuberculosis.

## Key findings

- rs12518552-G and rs2950218-T are associated with reduced PTB risk (OR = 0.82 and 0.77, respectively).
- Protective effects are stronger in individuals over 40, females, and non-smokers.
- C5orf64 polymorphisms contribute to genetic susceptibility to PTB.

## Abstract

Pulmonary tuberculosis (PTB) remains a significant global health issue, with genetic factors playing a crucial role in susceptibility. Long noncoding RNA (lncRNA) C5orf64 has been implicated in immune responses and cancer, but its association with PTB risk has not been fully explored.

Genomic DNA was extracted from peripheral blood samples of 955 participants (474 PTB cases and 481 controls). Rs12518552 and rs2950218 in C5orf64 were genotyped using the Agena MassARRAY system. Logistic regression analysis was performed to assess the association between these polymorphisms and PTB risk. Stratified analysis was conducted to evaluate the influence of age, gender, and smoking status.

Rs12518552-G (OR = 0.82, p = 0.034) and rs2950218-T (OR = 0.77, p = 0.012) were associated with a reduced PTB risk. Stratified analysis revealed that rs12518552 was associated with a protective effect against PTB in individuals over 40 years old (OR = 0.73, p = 0.024), females (OR = 0.77, p = 0.034), and non-smokers (OR = 0.78, p = 0.040), and rs2950218 was also associated with a reduced PTB risk in individuals over 40 years old (OR = 0.73, p = 0.040), females (OR = 0.72, p = 0.046), and non-smokers (OR = 0.72, p = 0.011).

C5orf64 polymorphisms, particularly rs12518552 and rs2950218, are associated with a reduced risk of PTB. These findings suggest that C5orf64 polymorphisms contribute to genetic susceptibility to PTB, with implications for PTB targeted screening and personalized therapeutic strategies.

## Linked entities

- **Genes:** LINC03122 (long intergenic non-protein coding RNA 3122) [NCBI Gene 285668]
- **Diseases:** pulmonary tuberculosis (MONDO:0006052)

## Full-text entities

- **Genes:** LINC03122 (long intergenic non-protein coding RNA 3122) [NCBI Gene 285668] {aka C5orf64, LINC03119}
- **Diseases:** PTB (MESH:D014397), cancer (MESH:D009369)
- **Mutations:** rs12518552, rs2950218

## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12207763/full.md

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Source: https://tomesphere.com/paper/PMC12207763