# Assessing ST18 gene polymorphisms (rs17315309, rs2304365) in Iraqi patients with Pemphigus vulgaris

**Authors:** Zahra Ali Al-Hasnawi, Ban AL-Drobie

PMC · DOI: 10.25122/jml-2023-0227 · Journal of Medicine and Life · 2024-01-01

## TL;DR

This study investigates the link between two ST18 gene SNPs and Pemphigus vulgaris in Iraqi patients, finding one SNP significantly associated with the disease.

## Contribution

The study identifies a novel genetic association between rs17315309 A/G in the ST18 gene and Pemphigus vulgaris in the Iraqi population.

## Key findings

- The rs17315309 A/G SNP in the ST18 gene is significantly associated with Pemphigus vulgaris in Iraqi patients.
- The mutant G-allele of rs17315309 is more prevalent in PV patients compared to healthy controls.
- No significant association was found between rs2304365 C/G and Pemphigus vulgaris in the same population.

## Abstract

Pemphigus vulgaris (PV) is a potentially fatal autoimmune disease characterized by blistering of the skin, mucous membranes, and oral cavity. Genetics are implicated in its etiology, with the ST18 gene identified as a potential risk factor for pemphigus in certain populations, suggesting its role as a novel molecular target for therapeutic intervention. This study aimed to detect single nucleotide polymorphisms (SNPs) rs17315309 A/G and rs2304365 C/G in the ST18 gene among Iraqi/Arabic patients with PV. A total of 90 Iraqi subjects participated in this study, including 45 patients diagnosed with PV and 45 healthy controls. SNP analysis was performed using High-Resolution Melt Analysis (HRMA) with Eva Green I Dye. For SNP rs17315309 A/G, the distribution of heterozygous genotypes showed highly significant differences between the patient and healthy groups (P = 0.005), with the mutant G-allele being significantly more prevalent in patients than in the healthy group (P = 0.001). In contrast, for SNP rs2304365 C/G, the distribution of heterozygous and mutant genotypes did not differ significantly between patients and healthy individuals (P = 0.8 and P = 0.3, respectively), with the mutant G-allele also showing no significant difference (P = 0.4). Our data indicate a significant association between PV and the rs17315309 A/G SNP in the ST18 gene among the Iraqi population of Arabic origin. However, no association was found between patients with PV and the rs2304365 C/G SNP in the same gene.

## Linked entities

- **Genes:** ST18 (ST18 C2H2C-type zinc finger transcription factor) [NCBI Gene 9705]
- **Diseases:** Pemphigus vulgaris (MONDO:0008219)

## Full-text entities

- **Genes:** ST18 (ST18 C2H2C-type zinc finger transcription factor) [NCBI Gene 9705] {aka NZF-3, NZF3, ZC2H2C3, ZC2HC10, ZNF387}
- **Diseases:** PV (MESH:D010392), blistering (MESH:D001768), autoimmune disease (MESH:D001327)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs2304365, A/G, rs17315309, C/G

## Full text

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## References

25 references — full list in the complete paper: https://tomesphere.com/paper/PMC11080500/full.md

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Source: https://tomesphere.com/paper/PMC11080500