Article Text

P182 Genetic predisposition to primary lactose intolerance and its influence on children’s quality of life and dietary habits
  1. Corina Pienar1,
  2. Edward Seclaman2,
  3. Marilena Lazarescu1,
  4. Radmila Costachescu1,
  5. Liviu Pop1
  1. 1 Paediatrics Department, 2nd Paediatrics Clinic, ‘Victor Babes’ University of Medicine and Pharmacy, Timisoara, Romania
  2. 2 Biochemistry Department, ‘Victor Babes’ University of Medicine and Pharmacy, Timisoara, Romania


Background Primary lactose intolerance (PLI) is a frequent condition caused by a genetically programmed and progressive loss of lactase expression. It is considered that PLI is the ancestral variant, while lactase persistence is caused by 2 polymorphisms: the dominant C/T13910 and G/A22018. Homozygotes (CC or GG) have undetectable lactase levels. In clinical practice only half of people with PLI have symptoms. However, some studies showed that PLI subjects have lower dairy intake.

Aim To investigate whether genetic predisposition to PLI influences the quality of life and dairy intake in a group of Romanian children.

Material and methods We conducted a prospective study, recruiting consecutive children evaluated in our unit in May-August 2016. Our study population included 87 children aged 6–17 years (mean age 10.64±3.51 years), 45 (51.72%) girls. We used strip genotyping to identify genetic predisposition to IPL. Subjects were asked to complete a validated quality of life questionnaire and a dairy intake questionnaire. We used Spearman’s test to evaluate the correlation between IPL and quality of life and dairy intake.

Results 45 (51.7%) subjects had a CC genotype. 30 (34.5%) subjects had a GG genotype. Our results were consistent with Hardy-Weinberg equilibrium. We found no correlation between homozygosity for PLI and dairy intake (CC: r=−0.06, p=0.54; GG: r=−0.01, p=0.86). We found no correlation between either CC, or GG homozygosity and quality of life (r=−0.11, p=0.3 and r=−0.1, p=0.34).

Conclusions In our group genetic predisposition to IPL followed European trends. It did not influence quality of life and dairy intake.

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