Polymorphism rs2239185 in vitamin D receptor gene is associated with severe community-acquired pneumonia of children in Chinese Han population: a case-control study.
Level 4 - case-series / case-control
Case-control study evaluating genetic association.
PubMed 25367052 · doi:10.1007/s00431-014-2433-0
What was done
Case-control study evaluating the association between the vitamin D receptor (VDR) rs2239185 polymorphism and community-acquired pneumonia (CAP) in a Chinese Han pediatric cohort. Genotyping was performed using polymerase chain reaction and direct sequencing in 91 children with CAP and 94 healthy control children. Subgroup analyses were performed across clinical markers of severity, including systemic inflammatory response syndrome (SIRS), leukocyte count, C-reactive protein (CRP), procalcitonin (PCT), and pediatric critical illness score.
What was found
Individuals carrying the TT genotype of rs2239185 had a significantly higher risk of CAP compared to those with CC plus CT genotypes (P = 0.008). The T allele was significantly more frequent in CAP cases than in healthy controls (P = 0.045). Stratification by severity markers revealed a significantly higher TT genotype frequency in CAP cases compared to controls among patients with SIRS (P = 0.0012), WBC > 10 × 10^9/L (P = 0.0035), CRP > 25 mg/L (P = 0.0005), PCT > 2 ng/mL (P = 0.0002), and pediatric critical illness score < 80 (P = 0.0021). Specific odds ratios, confidence intervals, and genotype counts were not reported in the abstract.
Why it matters
This study identifies VDR rs2239185 as a potential genetic susceptibility factor for severe pediatric community-acquired pneumonia, supporting the biological relevance of vitamin D signaling pathways in respiratory infections.
Limits
The total sample size was small (91 cases, 94 controls), limiting statistical power. The abstract reports p-values without corresponding effect estimates (odds ratios or relative risks) or confidence intervals. Findings from a single Chinese Han cohort may not generalize to other ethnic groups, and multiple subgroup comparisons raise the risk of false-positive associations in the absence of explicit multiple-testing corrections.
Cited by
- partial Children with a single nucleotide polymorphism in the vitamin D receptor have a higher mortality from respiratory tract infections.