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The association between the MCM6 LCT-13910C>T variant and bone mineral density in patients with inflammatory bowel
Agata Picher1, Alicja Ewa Ratajczak-Pawłowska2,3, Marzena Skrzypczak-Zielińska1
1Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Background:
Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are associated with increased risk of osteoporosis. Beyond established environmental factors, genetic determinants and the impact of lactose intolerance on calcium-phosphate balance and bone mineralization are increasingly considered. The aim of this study was to evaluate the association between the LCT-13910C>T (rs4988235) polymorphism in the MCM6 gene and bone mineral density (BMD) in IBD.
Methods:
A total of 125 patients (50 with UC, 75 with CD) and 39 healthy controls were enrolled. Genotyping was performed by high-resolution melting (HRM) analysis with Sanger sequencing confirmation for selected samples. BMD was measured at L1-L4 and at the femoral neck; selected biochemical parameters were also assessed.
Results:
Patients with IBD exhibited lower BMD compared with controls. Analysis of rs4988235 distribution revealed no statistically significant differences between patients and controls, although a higher frequency of the C allele and CC genotype was observed among patients. Genotype-phenotype analyses showed no significant associations for most parameters; the sole exception was the femoral neck in the CD subgroup, where CT heterozygotes had higher BMD than CC homozygotes.
Conclusion:
The LCT-13910C>T polymorphism does not appear to be independently associated with BMD in patients with IBD in this cohort. Given the moderate sample size and lack of adjustment for key confounders, the findings should be considered exploratory and require confirmation in larger, well-controlled studies.
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