ABSTRACT
The pandemic of metabolic disorders is accelerating in the urbanized world posing huge burden to health and economy. The key pioneer to most of the metabolic disorders is Diabetes Mellitus. A newly discovered form of diabetes is Maturity Onset Diabetes of the Young [MODY]. MODY is a monogenic form of diabetes. It is inherited as autosomal dominant disorder. Till to date 11 different MODY genes have been reported. This study aims to discover subgroups from the biological text documents related to these genes in public domain database. The data set was obtained from PubMed. Period: September-December, 2011. APRIORI-SD subgroup discovery algorithm is used for the task of discovering subgroups. A well known association rule learning algorithm APRIORI is first modified into classification rule learning algorithm APRIORI-C. APRIORI-C algorithm generates the rule from the discretized dataset with the minimum support set to 0.42% with no confidence threshold. Total 580 rules are generated at the given support. APRIOIR-C is further modified by making adaptation into APRIORI-SD. Experimental results demonstrate that APRIORI discovers the substantially smaller rule sets; each rule has higher support and significance. The rules that are obtained by APRIORI-C are ordered by weighted relative accuracy. Only first 66 rules are ordered as they cover the relation between all the 11 MODY genes with each other. These 66 rules are further organized into 11 different subgroups. The evaluation of obtained results from literature shows that APRIORI-SD is a competitive subgroup discovery algorithm. All the association among genes proved to be true
ABSTRACT
Genetic screening of Maturity Onset Diabetes of the Young [MODY] genes has not been performed in Pakistan so far; albeit MODY genes have been noticed in local population. A relevant research will help to establish a scheme for identification and treatment of MODY. The data source for the subgroup discovery was retrieved from PubMed. Family affected by MODY were contacted personaly for descriptive study. The family history was obtained from the representative members of the family and pedigree was drawn. The extensive clinical examination of both patients and their unaffected normal relatives was carried out by expert clinician. Specific primers for region of interest in genomic DNA were designed at the IBGE Islamabad using Primer 3 during last quarter of 2011. Mutation detection was performed followed by pattern discovery using subgroup discovery technique. Unidentified MODY genes facilitating the cause of a specific diabetes in European population may play a central role for diabetes characterized by autosomal dominant transmission in Pakistani population. Exclusion study indicates that there is no linkage to the known loci of MODY. Similarly genetic screening results suggest that no mutation is indicated in this examined family in MODY genes. There may be some environmental factors involved in causing this disease in this family; otherwise this disease is due to mutation in other reported MODY genes which are not screened in this study. Subgroup discovery results point out that all the reported MODY genes have association among themselves revealing 580 patterns