MRI variables.

<p>Values are mean ± SD. LV = left ventricular.</p><p>P value denotes significance of unpaired <i>t</i> test between athlete group and healthy control.</p

Correlations between myocardial TG content and MRI parameters.

<p>A: A correlation between myocardial TG content and end-diastolic volume. B: A correlation between myocardial TG content and end-systolic volume. C: Correlation between myocardial TG content and left ventricular (LV) mass. D: Correlation between myocardial TG content and epicardial fat volume. Open circle; control group. Closed circle; athlete group.</p

Association of 7 SNPs with type 2 diabetes in the Japanese population.

<p>Results of logistic regression analysis are shown.</p>a<p>risk allele reported in the previous reports.</p>b<p>risk allele frequency.</p>c<p>adjusted for age,sex and log-transformed BMI.</p>d<p>GRS was calculated according to the number of risk alleles by counting the 6 South Asian GWAS derived SNPs.</p

Association of 7 SNPs with BMI in the Japanese population.

<p>Results of linear regression analysis are presented. Log-transformed BMI was used for the analysis.</p>a<p>risk allele reported in the previous reports.</p>b<p>adjusted for age, sex and disease state of type 2 diabetes (control = 0, case = 1).</p>c<p>adjusted for age and sex.</p

Replication Study in a Japanese Population of Six Susceptibility Loci for Type 2 Diabetes Originally Identified by a Transethnic Meta-Analysis of Genome-Wide Association Studies

<div><p>Aim</p><p>We performed a replication study in a Japanese population to evaluate the association between type 2 diabetes and six susceptibility loci (<i>TMEM154</i>, <i>SSR1</i>, <i>FAF1</i>, <i>POU5F1</i>, <i>ARL15</i>, and <i>MPHOSPH9</i>) originally identified by a transethnic meta-analysis of genome-wide association studies (GWAS) in 2014.</p><p>Methods</p><p>We genotyped 7,620 Japanese participants (5,817 type 2 diabetes patients and 1,803 controls) for each of the single nucleotide polymorphisms (SNPs) using a multiplex polymerase chain reaction invader assay. The association of each SNP locus with the disease was evaluated using logistic regression analysis.</p><p>Results</p><p>Of the six SNPs examined in this study, four (rs6813195 near <i>TMEM154</i>, rs17106184 in <i>FAF1</i>, rs3130501 in <i>POU5F1</i> and rs4275659 near <i>MPHOSPH9</i>) had the same direction of effect as in the original reports, but two (rs9505118 in <i>SSR1</i> and rs702634 in <i>ARL15</i>) had the opposite direction of effect. Among these loci, rs3130501 and rs4275659 were nominally associated with type 2 diabetes (rs3130501; p = 0.017, odds ratio [OR] = 1.113, 95% confidence interval [CI] 1.019–1.215, rs4275659; p = 0.012, OR = 1.127, 95% CI 1.026–1.238, adjusted for sex, age and body mass index), but we did not observe a significant association with type 2 diabetes for any of the six evaluated SNP loci in our Japanese population.</p><p>Conclusions</p><p>Our results indicate that effects of the six SNP loci identified in the transethnic GWAS meta-analysis are not major among the Japanese, although SNPs in <i>POU5F1</i> and <i>MPHOSPH9</i> loci may have some effect on susceptibility to type 2 diabetes in this population.</p></div

Clinical Characteristics.

<p>Values are mean ± SD. bpm = beats per minutes, LDL = low-density lipoprotein; HDL = high-density lipoprotein; eGFR = estimated glomerular filtration rate; HOMA-IR = homeostasis model assessment of insulin resistance, NT-proBNP = N-terminal pro brain natriuretic peptides, VO₂max = maximal oxygen intake, CAVI = cardio ankle vascular index, IPAQ = international physical activity questionnaire.</p><p>P value denotes significance of unpaired <i>t</i> test between athlete group and healthy control.</p

Association of 6 SNP loci with type 2 diabetes in a Japanese population.

<p>Association of 6 SNP loci with type 2 diabetes in a Japanese population.</p

Replication Study for the Association of 9 East Asian GWAS-Derived Loci with Susceptibility to Type 2 Diabetes in a Japanese Population

<div><p>Aims</p><p>East Asian genome-wide association studies (GWAS) for type 2 diabetes identified 8 loci with genome-wide significance, and 2 loci with a borderline association. However, the associations of these loci except <i>MAEA</i> locus with type 2 diabetes have not been evaluated in independent East Asian cohorts. We performed a replication study to investigate the association of these susceptibility loci with type 2 diabetes in an independent Japanese population.</p> <p>Methods</p><p>We genotyped 7,379 Japanese participants (5,315 type 2 diabetes and 2,064 controls) for each of the 9 single nucleotide polymorphisms (SNPs), rs7041847 in <i>GLIS3</i>, rs6017317 in <i>FITM2</i>−<i>R3HDML</i>−<i>HNF4A</i>, rs6467136 near <i>GCCI</i>−<i>PAX4</i>, rs831571 near <i>PSMD6</i>, rs9470794 in <i>ZFAND3</i>, rs3786897 in <i>PEPD</i>, rs1535500 in <i>KCNK16</i>, rs16955379 in <i>CMIP</i>, and rs17797882 near <i>WWOX</i>. Because the sample size in this study was not sufficient to replicate single SNP associations, we constructed a genetic risk score (GRS) by summing a number of risk alleles of the 9 SNPs, and examined the association of the GRS with type 2 diabetes using logistic regression analysis.</p> <p>Results</p><p>With the exception of rs1535500 in <i>KCNK16</i>, all SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports. The GRS constructed from the 9 SNPs was significantly associated with type 2 diabetes in the Japanese population (<i>p</i> = 4.0 × 10^-4, OR = 1.05, 95% confidence interval: 1.02–1.09). In quantitative trait analyses, rs16955379 in <i>CMIP</i> was nominally associated with a decreased homeostasis model assessment of β-cell function and with increased fasting plasma glucose, but neither the individual SNPs nor the GRS showed a significant association with the glycemic traits.</p> <p>Conclusions</p><p>These results indicate that 9 loci that were identified in the East Asian GWAS meta-analysis have a significant effect on the susceptibility to type 2 diabetes in the Japanese population.</p> </div

Comparison between myocardial TG content in the control group and the athlete group.

<p>* <i>P</i><0.05 between the two groups.</p

Association of 6 SNP loci with quantitative traits related to glucose metabolism in control individuals.

Association of 6 SNP loci with quantitative traits related to glucose metabolism in control individuals.</p