Association of COL1A1, MMR-9 genes polymorphisms with gastroesophageal reflux disease and hiatal hernia type I

Background. The study of the genetic predisposition to gastroesophageal reflux disease (GERD) and hiatal hernia (HH) will improve early diagnosis and рersonalize treatment approach.

The аim. To identify the association of polymorphic variants rs1107946 of the COL1A1 gene, rs17576 of the MMR-9 gene with GERD and HH type I.

Materials and methods. Twenty-three healthy volunteers of the control group, 31 patients with HH type I of the first group, 40 patients with HH type I and GERD of the second group were examined. Identification of polymorphic variants was carried out by real-time polymerase chain reaction using commercial SNP-screen kits (Synthol, Russia).

Results. Carriage of allele A rs1107946 COL1A1 gene increased the chances of developing HH type I by 3.84 times (p = 0.040). The frequency of the AG genotype rs17576 of the MMR-9 gene in the second group was 62.50 %, which is significantly different from the frequency of homozygous genotypes (AA and GG): p = 0.049. Simultaneous carriage of the A allele rs1107946 of the COL1A1 gene and the G allele rs17576 of the MMR-9 gene was associated with an increased chance of developing HH type I. However, the obtained result was characterized by a wide confidence interval (OR = 9.00; 95% CI 1.05–77.18; p = 0.030), indicating possible instability of the effect.

Conclusion. Associative relationships were established between the carrier of the A allele of the rs1107946 gene COL1A1, as well as the simultaneous carrier of the A allele of the rs1107946 gene COL1A1 and the G allele of the rs17576 gene MMR-9 with the development of HH type I. In patients with HH type I and GERD the highest frequency of AG rs17576 genotype of the MMR-9 gene (62.5 %) was noted.

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