title: Primary lactase deficiency and past malarial endemicity in Sardinia.
abstract: BACKGROUND
  It has recently been suggested that primary lactase deficiency might have been selected for by malaria, as occurred for beta-thalassaemia and glucose 6-phosphate dehydrogenase deficiency. However, recently we have found that the prevalence of primary lactase deficiency in the area of Sassari (Northern Sardinia), where, in the past, there was intermediate malarial endemicity, is comparable to that observed in the adult population from other areas of Southern Italy where malaria was less endemic.
  
  
  OBJECTIVE
  To address the problem further, we have determined the prevalence of primary lactase deficiency, glucose 6-phosphate dehydrogenase deficiency deficiency and beta-thalassaemia trait in the populations of three Sardinian villages which differ in altitude above sea-level, socioeconomic features, history of endemic malaria and prevalence of b-thalassaemia and glucose 6-phosphate dehydrogenase deficiency.
  
  
  METHODS
  We tested 138 adult males: 53 were from Fonni (a non-malarial mountain village, with a strong pastoral tradition), 38 from Lodé (a village with a similar pastoral tradition, but high malarial endemicity in the past) and 47 from Terralba (a lowland fishing village with an agricultural tradition and heavy malarial morbidity and mortality).
  
  
  METHODS
  A blood sample was obtained in all subjects for determination of HbA2 and glucose 6-phosphate dehydrogenase activity. Lactase deficiency was assessed by measuring breath hydrogen production after oral administration of lactose (50 g), by gas-chromatography.
  
  
  RESULTS
  The frequencies of glucose 6-phosphate dehydrogenase deficiency and of beta-thalassaemia trait in the non-malarial village of Fonni were strikingly low, compared to frequencies found in the two villages (Terralba and Lodé) with a very high past malarial morbidity. In contrast, there was no significant difference in the prevalence of lactase deficiency in the three groups of subjects from the three villages.
  
  
  CONCLUSIONS
  These data obtained in Northern Sardinia do not support the hypothesis of a selection of primary lactase deficiency by malaria. For definitive conclusions, however, the malaria hypothesis should be tested in other parts of the world.
authors.affiliation: Department of Paediatrics and Neonatology, University of Sassari, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Meloni
authors.forename: C
authors.initials: C
authors.lastname: Colombo
authors.forename: G
authors.initials: G
authors.lastname: Ruggiu
authors.forename: M
authors.initials: M
authors.lastname: Dessena
authors.forename: G F
authors.initials: GF
authors.lastname: Meloni
mesh_terms: D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D001944:Breath Tests; D016009:Chi-Square Distribution; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000453:epidemiology*; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D007558:Italy / Q000453:epidemiology; D007785:Lactose; D007787:Lactose Intolerance / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008288:Malaria / Q000453:epidemiology*; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012016:Reference Values; D012307:Risk Factors; D001616:beta-Galactosidase / Q000172:deficiency*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics
chemical_list: D006443:Hemoglobin A2; D001616:beta-Galactosidase; D007785:Lactose