Major Congenital Anomalies Associations Through Graph Theory

ELIAS, DARIO; COSENTINO, VIVIANA; GIMENEZ, LUCAS; GILI, JUAN; RITTLER, MONICA; PAWLUK, MARIELA; POLETTA, FERNANDO; CAMPAÑA, HEBE; SANTOS, RITA; RATOWIECKI, JULIA; LOPEZ CAMELO, JORGE

Colombo

Conferencia; 9th International Conference on Birth Defects and Disabilities in the Developing World; 2020

International Conference on Birth Defects and Disabilities in the Developing World

Introduction and Objectives: The identification of new major congenital anomalies complexes and associations is an important activity in birth defects surveillance. To date, two approaches have been used to analyze associations. The first focuses on a specific anomaly and determines the association degree with other anomalies. The second approach was based on the cases clustering considering each anomaly as a binary variable. The graph theory, offers an integrating approach, allows to analyze the complete set of anomalies and each of them. A graph is constituted by nodes that represent entities and edges that represent the relationship between entities. In recent years this approach has enriched many study areas, for example, proteins interactions and diseases associations. The objective of this work is to analyze the feasibility of this approach to study major anomalies complexes and associations.Methods: This study was based on the Estudio Colaborativo Latino Americano deMalformaciones Congénitas (ECLAMC) registers. We used 118244 cases with at least one major anomaly recorded between 1967 and 2017. We used the ECLAMC anomaly coding system, which has 207 codes. To determine the association strength between anomalies we used the volumeadjusted Chi-Squared independence test. The graph was partitioned using the Infomap method.Results: The major congenital anomalies graph had 74 nodes and 175 edges. Its degreedistribution presented a greater adjustment to an Exponential distribution than to a Poisson and Power distributions, therefore the graph obtained differ from random graphs. The graph partition generated 9 anomalies groups, the partition modularity was 0,53. The anomalies complexes identified through graph theory would correspond to those found in the literature, such as Patau Syndrome. Atresia and stenosis of rectum and anus, Anophthalmia/Microphthalmia and Ambiguous genitalia were the more associated anomalies (> 15).Conclusions: These results imply that it is feasible to use graph theory for the study of majorcongenital anomalies associations.