T1D is a progressive, autoimmune-mediated condition associated with numerous comorbidities and significant premature mortality. The offspring of fathers diagnosed with T1D exhibit a 2-3 times higher risk of developing T1D than the offspring of mothers diagnosed with T1D. Individuals with T1D who have an affected father present with a more aggressive disease phenotype at diagnosis. Yet the impact of paternal T1D (P-T1D) vs. maternal T1D (M-T1D) on health outcomes in individuals with T1D is unknown.

We previously developed and validated a subgroup discovery algorithm that identifies highly contrasted patterns occurring with a significant difference in prevalence between two subgroups (e.g., P-T1D vs. M-T1D). Here we used this computational deep exploratory data mining method to analyze publicly-accessible data from the T1D Exchange Clinic Registry (2010-12; 2015-17). We used an Apache Spark high performance computing environment to apply our algorithm to family history, gender, and medical conditions data in the Registry.

We identified multiple phenotypic contrasts between individuals with P-T1D (2010-12 data: n = 1011; 2015-17 data: n = 652) vs. M-T1D (2010-12 data: n = 528; 2015-17 data: n = 342). Using Fisher’s exact tests to determine statistical significance, P-T1D associated with hypothyroidism and male gender in 7.2% of cases (47/652), compared to 3.2% of cases (11/342) of M-T1D (p = 0.01). M-T1D was associated with hypertension (HTN) in 36.0% of cases (123/342), compared to 22.3% of cases (146/652) in P-T1D (p < 0.001). M-T1D was associated with diabetes-related neuropathy and HTN in 10.8% of cases (37/342), compared to 4.9% of cases (32/652) in P-T1D (p = 0.001).

Complex patterns generated with this algorithm may yield contrast patterns that provide insights about personalized interventions to improve health outcomes. Whether contrast mining can be used to predict health trajectories of individuals with T1D remains to be determined.


E.M. Tallon: None. M.A. Clements: Consultant; Self; Glooko, Inc. Other Relationship; Self; Glooko, Inc. D. Liu: None. K. Boles: None. R.A. Stuck: None. C. Shyu: None.


National Institutes of Health (5T32LM012410)

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