Hair morphology is one of the most differentiated traits among human populations. However, genetic backgrounds of hair morphological differences among populations have not been clarified yet. In addition, little is known about the evolutionary forces that have acted on hair morphology. To identify hair morphology-determining genes, the levels of local genetic differentiation in 170 genes that are related to hair morphogenesis were evaluated by using data from the International HapMap project. Among highly differentiated genes, ectodysplasin A receptor (EDAR) harboring an Asian-specific non-synonymous single nucleotide polymorphism (1540T/C, 370Val/Ala) was identified as a strong candidate. Association studies between genotypes and hair morphology revealed that the Asian-specific 1540C allele is associated with increase in hair thickness. Reporter gene assays suggested that 1540T/C affects the activity of the downstream transcription factor NF-kappaB. It was inferred from geographic distribution of 1540T/C and the long-range haplotype test that 1540C arose after the divergence of Asians from Europeans and its frequency has rapidly increased in East Asian populations. These findings lead us to conclude that EDAR is a major genetic determinant of Asian hair thickness and the 1540C allele spread through Asian populations due to recent positive selection.
It has been suggested that Neel's ''thrifty genotype'' model may account for high body weights in some Oceanic populations, which presumably arose in modern times. In European populations, common variants (rs1421085-C, rs17817449-G, and rs9939609-A) in the fat mass and obesity (FTO associated) were recently found to be associated with body mass index (BMI) or obesity. In this study, we investigated the population frequencies of these variants in six Oceanic populations (Melanesians, Micronesians, and Polynesians) and tested for an association with BMI. Unlike European populations, the Oceanic populations displayed no significant association between the FTO polymorphisms and BMI. These variants were in strong linkage disequilibrium. The population frequencies ranged between 4.2 and 30.3% in the six Oceanic populations, and were similar to those in southeast and east Asian populations. Our study of the FTO polymorphisms has generated no evidence to support the thrifty genotype hypothesis for Oceanic populations.
Many studies have shown that a one-time 123 I-metaiodobenzylguanidine ( 123 I-MIBG) scintigraphic study during a stable period is useful for determining the prognosis of patients with chronic heart failure (CHF). However, the findings from this imaging modality are well known to be improved by medical treatment for heart failure. Accordingly, this study was performed to determine whether serial 123 I-MIBG scintigraphic studies represent a reliable prognostic marker for patients with CHF. Methods: A total of 208 patients with CHF (left ventricular ejection fraction [LVEF] , 45%) and with no cardiac events for at least 5 mo were identified on the basis of a history of decompensated acute heart failure requiring hospitalization. The delayed percentage of denervation (% denervation), delayed heart-to-mediastinum count (H/M) ratio, and washout rate (WR) were determined from the patients' 123 I-MIBG images just before they left the hospital and after they had received 6 mo of treatment. The left ventricular end-diastolic volume (LVEDV), left ventricular end-systolic volume (LVESV), and LVEF were also determined by echocardiography at the same time points. Results: Of the 208 patients, 56 experienced fatal cardiac events during the study. The mean follow-up period was 4.45 6 1.82 y. The baseline H/M ratio and WR; follow-up % denervation, H/M ratio, and WR; D-% denervation, H/M ratio, and WR; baseline LVEF; follow-up LVEDV, LVESV, and LVEF; and D-LVEDV, D-LVESV, and D-LVEF were significantly worse in the cardiac death group. A Cox regression analysis showed that the D-WR was an independent predictor of cardiac death. Moreover, sudden death occurred in 13 of the 56 patients with cardiac death. A Cox regression analysis also showed that the D-WR was an incremental predictor of sudden death. The cardiac death-free rate and sudden death-free rate were significantly higher in patients with D-WR less than 25% and D-WR less than 22% than in patients with D-WR greater than or equal to 25% and D-WR greater than or equal to 22%. Conclusion: D-WR obtained from serial 123 I-MIBG scintigraphic studies can be useful for predicting cardiac death and sudden death in stabilized patients with CHF.
The present study completely evaluated the effectiveness of a disaster preparedness training and disaster drill: The training and drill improved the knowledge and ability of disaster preparedness for both undergraduate and diploma students.
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