Single nucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia: Validation for clinical practice

Objectives To validate C/T-13910 polymorphism associated with primary hypolactasia for clinical practice. Design and methods Lactose breath test and PCR-RFLP for the C/T-13910 polymorphism were performed. Results Twenty-seven of 28 patients with genotype CC had positive breath tests; all twenty-two patients with genotypes CT or TT had negative breath tests. Agreement of tests was high (p < 0.0001; Kappa Index 0.96). Conclusion C/T-13910 polymorphism detection may be a new tool for primary hypolactasia diagnosis.