General Characteristics of Samples Tested for HBV DNA (n = 17).

<p>General Characteristics of Samples Tested for HBV DNA (n = 17).</p

Outcomes of Molecular Analysis.

<p>Outcomes of Molecular Analysis.</p

Distribution by Anatomical Site and Pathological Diagnosis of Final Sample (n = 17).

<p>Distribution by Anatomical Site and Pathological Diagnosis of Final Sample (n = 17).</p

Additional file 1 of Untargeted metabolomic profiling reveals molecular signatures associated with type 2 diabetes in Nigerians

Additional file 1. Description of T2D drugs and related by-products identified in the study and anthropometric/clinical characteristics of participants. The file includes Table S1A; T2D medications reported by study participants; Table S1B, T2D medications and related products identified in the study participants by LC/MS; Table S3, Anthropometric and clinical characteristics of the study participants in the replication cohort; Table S5, Anthropometric and clinical characteristics of T2D cases in the entire cohort based on controlled/uncontrolled glycemic index

Common and rare exonic <i>MUC5B</i> variants associated with type 2 diabetes in Han Chinese

<div><p>Genome-wide association studies have identified over one hundred common genetic risk variants associated with type 2 diabetes (T2D). However, most of the heritability of T2D has not been accounted for. In this study, we investigated the contribution of rare and common variants to T2D susceptibility by analyzing exome array data in 1,908 Han Chinese genotyped with Affymetrix Axiom® Exome Genotyping Arrays. Based on the joint common and rare variants analysis of 57,704 autosomal SNPs within 12,244 genes using Sequence Kernel Association Tests (SKAT), we identified significant associations between T2D and 25 variants (9 rare and 16 common) in <i>MUC5B</i>, <i>p</i>-value 1.01×10⁻¹⁴. This finding was replicated (p = 0.0463) in an independent sample that included 10,401 unrelated individuals. Sixty-six of 1,553 possible haplotypes based on 25 SNPs within <i>MUC5B</i> showed significant association with T2D (Bonferroni corrected p values < 3.2×10⁻⁵). The expression level of <i>MUC5B</i> is significantly higher in pancreatic tissues of persons with T2D compared to those without T2D (p-value = 5×10⁻⁵). Our findings suggest that dysregulated MUC5B expression may be involved in the pathogenesis of T2D. As a strong candidate gene for T2D, <i>MUC5B</i> may play an important role in the mechanisms underlying T2D etiology and its complications.</p></div