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Association of CDK6 gene polymorphisms with Behcet's disease in a Han Chinese population

Shiya Cai1, Jun Zhang2, Chunya Zhou1

  • 1Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Engineering Research Center of Assistive Technology for Visual Impairment, Fujian Province University, Quanzhou, PR China; Department of Ophthalmology & Optometry, The School of Medical Technology and Engineering, Fujian Medical University, Fuzhou, PR China.

Experimental Eye Research
|August 3, 2022
PubMed

Insights

Genetic variants in CDK6, specifically rs2282983 and rs42034, are associated with Behcet's disease (BD) susceptibility and skin lesions in the Han Chinese population. These findings offer new insights into the genetic basis of BD.

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Cyclin-dependent kinases 4/6 (CDK4/6) and D1-type cyclins (CCND1) play roles in regulating inflammatory responses.
  • Behcet's disease (BD) is a chronic inflammatory disorder with complex etiology.
  • Understanding the genetic factors contributing to BD susceptibility is crucial for elucidating its pathogenesis.

Purpose of the Study:

  • To investigate the association between genetic variants in the CDK4/6-CCND1 pathway and susceptibility to Behcet's disease.
  • To explore the correlation between these genetic variants and clinical manifestations, such as skin lesions, in BD patients.

Main Methods:

  • A case-control study was conducted with 542 BD patients and 754 healthy controls from the Han Chinese population.
  • Fourteen tagged single nucleotide polymorphisms (tag SNPs) in the CDK4/6-CCND1 gene were genotyped using Sequenom MassARRAY and iPLEX® Pro assay.
  • Statistical analyses, including odds ratios and confidence intervals, were performed to assess genetic associations.

Main Results:

  • The CDK6 rs2282983 TT genotype showed a higher frequency in BD patients compared to controls (Pc = 0.040).
  • CDK6 rs2282983 CT and rs42034 AG genotypes were negatively associated with BD susceptibility (Pc = 3.647 × 10⁻⁴ and Pc = 0.039, respectively).
  • CDK6 rs2282983 TT and CT genotypes were significantly associated with the presence of skin lesions in BD patients (Pc = 0.042 and Pc = 0.001, respectively).

Conclusions:

  • The CDK6 loci rs2282983 and rs42034 may confer genetic susceptibility to Behcet's disease in the Han Chinese population.
  • These genetic variations could be linked to specific clinical features, such as skin lesions.
  • The findings provide novel insights into the genetic underpinnings and pathogenesis of Behcet's disease.

Keywords:
Behcet's diseaseCDK6Chinese Han populationSingle nucleotide polymorphism

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