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Lactase non-persistent genotype distribution in Italy.

Cristina Zadro1, Savina Dipresa2, Giovanni Zorzetti2

  • 1g&life SpA, Trieste, Italy - cristina.zadro@glifecompany.com.

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Lactase non-persistence, a common cause of lactose malabsorption, shows a 62.3% prevalence in the Italian population. This study found no North-South gradient for adult hypolactasia across Italy.

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Area of Science:

  • Genetics
  • Human Physiology
  • Population Studies

Background:

  • Adult-type hypolactasia is a common lactose malabsorption condition.
  • European populations show a North-South gradient for this trait.
  • Lactase gene (LCT) genotyping is a diagnostic marker for hypolactasia.

Purpose of the Study:

  • Determine the prevalence of the lactase non-persistent CC-genotype in Italy.
  • Investigate the distribution of adult-type hypolactasia across Italian macro-regions.

Main Methods:

  • Genotyped 1312 adult Italians for the LCT-13910 C>T polymorphism.
  • Utilized KASPar chemistry for genotyping.

Main Results:

  • The overall frequency of the lactase non-persistence genotype (CC) was 62.3%.
  • Regional frequencies were 58.6% (North), 74.1% (Center), and 67.1% (South).
  • The observed prevalence exceeded previously reported values for Italy.

Conclusions:

  • This is the first large-scale analysis of LCT-13910 CC genotype distribution in Italy.
  • Data do not support a North-South gradient for adult hypolactasia in the Italian population.