Poor nutrition during critical growth phases may alter the structural and physiologic development of vital organs thus "programming" the susceptibility to adult-onset diseases and disease-related health conditions. Epigenome-wide association studies have been performed in birth-weight discordant twin pairs to find evidence for such "programming" effects, but no significant results emerged. We further investigated this issue using a new computational approach: Instead of probing single genomic sites for significant alterations in epigenetic marks, we scan for differentially methylated genomic regions. Whole genome DNA methylation levels were measured in whole blood from 150 pairs of adult identical twins discordant for birth-weight. Intrapair differential DNA methylation was associated with qualitative (large or small) and quantitative (percentage) birth-weight discordance at each genomic site using regression models adjusting for age and sex. Based on the regression results, genomic regions with consistent alteration patterns of DNA methylation were located and tested for significant robustness using computational permutation tests. This yielded an interesting genomic region on chromosome 1, which is significantly differentially methylated for quantitative birth-weight discordance. The region covers two genes (TYW3 and CRYZ) both reportedly associated with metabolism. We conclude that prenatal conditions for birth-weight discordance may result in persistent epigenetic modifications potentially affecting even adult health.

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Abstract-To release the burden of medical personnel and satisfy users with diversified backgrounds and requirements, a hierarchical intelligent cardiovascular diseases (CVDs) diagnosis system in e-home healthcare is pioneered to perform noninvasive and invasive comprehensive diagnosis with ranked levels and accuracies. As the top-level diagnosis and authoritative reference, the diagnostic results in upstream must be eminently high precise to support functionality of the overall system, yet it is woefully inadequate by only relying on the noninvasive multi-vital-signs employed in lower streams diagnosis. Tackling this, invasive blood test parameters (BTPs) extracted from routine blood test are exploited as complementary. In this paper, an intelligent BTPs diagnosis system is initiated and integrated to the entire e-home healthcare. The dedicated frame-based medical database (DB) and knowledgebase (KB) provide the standard for BTPs related studies. An intelligent inference engine (IE) is constructed to perform integrative seamless diagnosis for home users. Experimental results validate the high performance of the proposed system with averaged diagnostic accuracy of 84.38% for 241 site-sampled CVDs records. With such an organic combination of noninvasive and invasive diagnosis, it provides a solid and reliable mainstay for the functionality of the entire system.Index Terms-Blood test parameters, e-health, frame shell design, hierarchical diagnosis, knowledge representation, noninvasive and invasive comprehensive diagnosis.