Dataset Information

Association between PDCD1 gene polymorphisms and psoriasis susceptibility in the Chinese population.

ABSTRACT:

Background

As an immune regulator expressed on the surface of activated T cells, programmed cell death 1 (PDCD1) plays an important role in psoriasis. However, whether PDCD1 genetic polymorphism is associated with psoriasis has yet to be explored.

Objective

To study the association between polymorphisms of the immune-related gene PDCD1 and psoriasis susceptibility in the Chinese population, to illustrate the genetic mechanism of psoriasis and provide new research ideas for the diagnosis and treatment of psoriasis (PS).

Methods

Overall, 128 psoriasis patients and 88 healthy controls were included in this study. Using polymerase chain reaction (PCR)-Sanger sequencing analysis, six PDCD1 single nucleotide polymorphisms (SNPs) were sequenced: PD1.1, PD1.3, PD1.4, PD1.5, PD1.6, and PD1.9.

Results

Among the six tested SNPs, PD1.6 showed a significant association with psoriasis in genotype and allele frequency distribution. The G allele of PD1.6 increased the risk of psoriasis (P = 0.03). In contrast, the other five SNPs failed to show association with psoriasis. Further analysis within the patient group showed that the frequency of the PD1.6 G allele was relatively high in severe psoriasis, but the difference was nonsignificant.

Conclusion

PDCD1 gene polymorphism is associated with psoriasis. The population carrying PD1.6 allele G are at a higher risk of developing psoriasis, though the severity of psoriasis does not correlate with PD1.6 polymorphism.

SUBMITTER: Hua S

PROVIDER: S-EPMC8596410 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Tuberculosis (TB) is an important public health problem. Studies indicated that TAP plays a key role in the presentation and transport of antigenic peptides during anti-M.tb infection. Given the important biological role of the TAP gene involved in anti-M.tb infection, a family-based case-control study including 133 tuberculosis patients, 107 healthy household contacts, and 173 healthy controls was conducted to assess the association between TAP gene polymorphisms and TB susceptibility. The basic information of subjects and their blood samples were collected. Four SNPs including rs1135216, rs1057141, rs241447, and rs3819721 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our results suggested that BMI, residence, bedroom crowding, indoor humidity, fitness activities, history of smoking, and TB exposure history were associated with the occurrence of tuberculosis (P < 0.05). A significant association was observed between the TAP1 rs1135216 CT/CC genotype and increased TB risk, and the ORs were 2.56 (95% CI 1.31-4.99) and 6.73 (95% CI 1.33-34.02), respectively. TAP2 rs3819721 GG genotype carriers also showed an increased risk of TB when compared TB patients to healthy household contacts. Haplotype analysis revealed that the haplotype CT at rs1057141 and rs1135216 (OR = 11.34, 95% CI 1.49-86.56; OR = 7.45, 95% CI 1.43-38.76), as well as TA at rs241447 and rs3819721 (OR = 2.20, 95% CI 1.07-4.56) had a significantly increased risk of TB. The genetic risk scores (GRS) analysis of the four loci indicated that the risk of tuberculosis increased with increasing GRS scores in TB vs HHC (Ptrend = 0.010) and in TB vs HC (Ptrend = 0.001). In conclusion, our findings suggested that the SNPs of rs1135216 and rs3819721 were associated with TB susceptibility among the tuberculosis-prone families in the Chinese Han population and the risk of developing tuberculosis increases with the number of risk alleles, which could help identify high-risk groups in time and take scientific preventive measures. Further cohort studies with large samples are needed to validate the role of TAP gene variants on TB susceptibility.