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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: Feb 23, 2026

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STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders.

Ziyan Shi1, Qin Zhang1, Hongxi Chen1

  • 1Department of Neurology, West China Hospital, Sichuan University, No. 28 Dianxin Nanjie Street, Chengdu, 610041, China.

Neuromolecular Medicine
|August 31, 2017
PubMed
Summary

Genetic variations in STAT4 are linked to an increased risk of neuromyelitis optica spectrum disorders (NMOSD). Certain STAT4 single nucleotide polymorphisms (SNPs) are associated with higher NMOSD susceptibility, while one shows a protective effect.

Keywords:
Autoimmune diseasesGenetic association studyMultiple sclerosisNMOSDNeuromyelitis optica spectrum disordersSNPSTAT4Single nucleotide polymorphism

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Area of Science:

  • Immunogenetics
  • Neurology
  • Autoimmune Diseases

Background:

  • Signal transducer and activator of transcription 4 (STAT4) is vital for immune cell function and implicated in autoimmune disorders.
  • The specific role of STAT4 in neuromyelitis optica spectrum disorders (NMOSD) pathogenesis requires further investigation.

Purpose of the Study:

  • To investigate the association between STAT4 single nucleotide polymorphisms (SNPs) and the risk of developing NMOSD.
  • To determine if STAT4 genetic variations contribute to NMOSD susceptibility in a case-control study.

Main Methods:

  • A case-control study was conducted with 233 NMOSD patients and 492 healthy controls.
  • Five STAT4 SNPs were genotyped and analyzed using chi-square and logistic regression under allelic, additive, dominant, and recessive models.
  • Statistical significance was assessed after correcting for multiple comparisons using the Benjamini and Hochberg false discovery rate (FDR-BH).

Main Results:

  • Four STAT4 SNPs (rs7574865, rs10181656, rs10168266, rs13426947) showed a significant association with increased NMOSD risk, particularly their minor alleles.
  • These associations remained consistent across different genetic models (dominant, recessive, additive).
  • Conversely, the G allele of rs7601754 demonstrated a protective effect against NMOSD.

Conclusions:

  • STAT4 polymorphisms are significantly associated with the risk of neuromyelitis optica spectrum disorders.
  • These findings offer new insights into the genetic underpinnings and immune mechanisms contributing to NMOSD.
  • STAT4 variants represent potential biomarkers for NMOSD risk stratification.