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Single Nucleotide Polymorphisms-SNPs01:05

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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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Polymorphism refers to the existence of a drug substance in multiple crystalline forms, known as polymorphs. Recently, this term has been expanded to include solvates (forms containing a solvent), amorphous forms (non-crystalline forms), and desolvated solvates (forms from which the solvent has been removed).
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Changes in polymorphic forms can significantly influence the bioavailability of poorly soluble drugs. Although the FDA defines pharmaceutical equivalence based on having the same active ingredient, dosage form, and route of administration, it does not automatically disqualify products with different polymorphic forms. This means two products with different polymorphs can still be deemed pharmaceutically equivalent. However, polymorphic differences can affect properties like wettability,...
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Related Experiment Video

Updated: Jan 27, 2026

Primed Mycobacterial Uveitis PMU as a Model for Post-Infectious Uveitis
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BTNL2 gene polymorphism and sarcoid uveitis.

Mayeul Chaperon1, Yves Pacheco2, Delphine Maucort-Boulch3,4

  • 1Internal Medicine, Hopital de la Croix-Rousse, Lyon, France.

The British Journal of Ophthalmology
|March 16, 2019
PubMed
Summary
This summary is machine-generated.

The BTNL2 gene G16071A single-nucleotide polymorphism (SNP) is not associated with sarcoid uveitis risk. However, the GG genotype is prevalent in Caucasian postmenopausal women with sarcoid uveitis, suggesting a specific genetic predisposition.

Keywords:
geneticsimmunologyinflammation

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Area of Science:

  • Ophthalmology
  • Genetics
  • Immunology

Background:

  • Uveitis is a common early manifestation of sarcoidosis.
  • The butyrophilin-like 2 (BTNL2) gene polymorphism has been linked to sarcoidosis susceptibility.

Purpose of the Study:

  • To investigate the association between the BTNL2 gene G16071A single-nucleotide polymorphism (SNP) and the risk of sarcoid uveitis.
  • To analyze this association across different patient subgroups.

Main Methods:

  • Genotype frequencies of the G16071A SNP were compared among four groups: sarcoid uveitis patients, sarcoidosis patients without uveitis, uveitis patients without sarcoidosis, and controls.
  • Three subgroups of sarcoid uveitis patients were analyzed: <45 years, Caucasian women >45 years, and others.

Main Results:

  • Significant differences in genotype frequencies were observed between sarcoidosis patients with and without uveitis, and between sarcoidosis patients with uveitis and controls.
  • No significant difference was found between the three subgroups of sarcoid uveitis patients.
  • A significant difference was noted between Caucasian postmenopausal women with sarcoid uveitis and sarcoidosis patients without uveitis.

Conclusions:

  • The G16071A SNP in the BTNL2 gene is not directly associated with the susceptibility to sarcoid uveitis.
  • The GG genotype of this SNP may be a predisposing factor for sarcoidosis, particularly in Caucasian postmenopausal women with sarcoid uveitis.