CONSANGUINITY BY RANDOM ISONYMY AND SOCIOECONOMIC DEVELOPMENT IN ARGENTINA: A POPULATION STUDY.

In human populations various flexible, labile and interdependent structures (genetic, demographic, socioeconomic) co-exist, each of which can be organized in an hierarchical order corresponding to administrative entities. The relationship between consanguinity, as estimated by random isonymy (F ST), and socioeconomic conditions was analysed at different levels of political and administrative organization in Argentina. From the surnames of 22,666,139 voters from the 2001 electoral roll, F ST was estimated for 510 Argentinian departments. Using a principal component analysis, a Socio-Demographic and Economic Indicator (SDEI), summarizing the effect of 22 socioeconomic and demographic variables at the departmental level, was computed. The relationship between departmental F ST and SDEI values was analysed for the whole nation and within regions using multiple regression analysis. The F ST presented a clinal distribution with the highest values in the north and west of the country, while SDEI expressed the opposite behaviour. A negative and significant correlation was observed between F ST and SDEI, accounting for 46% of the variation in consanguinity in Argentina. The strongest correlations of F ST with SDEI were observed in the Central, Patagonia and Cuyo regions, i.e. those with the highest values of SDEI and lowest values of F ST.

Random inbreeding, isonymy, and population isolates in Argentina.

Population isolates are an important tool in identifying and mapping genes of Mendelian diseases and complex traits. The geographical identification of isolates represents a priority from a genetic and health care standpoint. The purpose of this study is to analyze the spatial distribution of consanguinity by random isonymy (F ST) in Argentina and its relationship with the isolates previously identified in the country. F ST was estimated from the surname distribution of 22.6 million electors registered for the year 2001 in the 24 provinces, 5 geographical regions, and 510 departments of the country. Statistically significant spatial clustering of F ST was determined using the SaTScan V5.1 software. F ST exhibited a marked regional and departamental variation, showing the highest values towards the North and West of Argentina. The clusters of high consanguinity by random isonymy followed the same distribution. Recognized Argentinean genetic isolates are mainly localized at the north of the country, in clusters of high inbreeding. Given the availability of listings of surnames in high-capacity storage devices for different countries, estimating F ST from them can provide information on inbreeding for all levels of administrative subdivisions, to be used as a demographic variable for the identification of isolates within the country for public health purposes.