Spina bifida in a pre-Columbian Cuban population: A paleoepidemiological study of genetic and dietary risk factors

A holistic approach is necessary to investigate health in archeological populations. Molecular techniques, particularly multiplex PCR and SNaPshot minisequencing, can be combined with paleopathology and dietary analysis (stable isotope, starch, zooarchaeological analyses) to understand aspects of population health. This article demonstrates how spina bifida, a multi-factorial disease characterized by the midline failure to complete vertebral neural arch formation, can be investigated holistically.Based on skeletal evidence, this disease was prevalent in a pre-Columbian Cuban population from the archeological site of Canimar Abajo (3000-1250 BP). Molecular paleopathological techniques were employed to examine disease potential in this preliminary study, examining 18 individuals (including two individuals with evidence of mild spina bifida, and 16 without such evidence) for four single nucleotide polymorphisms and one insertion sequence associated with spina bifida. The combined effect of these polymorphisms, as well as dietary factors, determines the risk of the population for spina bifida, and these factors united to create the observed high disease prevalence.We demonstrate how molecular paleopathology, corroborated by dietary analyses, can be used within a paleoepidemiological framework to understand population health and disease.

► New genetic study of spina bifida in past populations.
► Successive multiplex PCRs and SNaPshot minisequencing useful for ancient samples.
► SNPs associated with spina bifida prevalent at Canimar Abajo.
► Dietary analyses potentially reveal low folate sources at Canimar Abajo.
► Genetic and dietary factors contribute to risk of spina bifida in this population.