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Recently, the prevalence of childhood obesity has significantly increased in industrialized countries, including Korea, and now controlling obesity is becoming an economic burden. However, knowledge of the risk factors associated with obesity is still limited. In this study, we aimed to discover additional obesity-associated loci in children. To achieve this, we conducted an exome-wide association analysis of copy number variation (CNV) using whole-exome sequencing (WES) data from a total of 102 cases and 86 controls. We newly identified a CNV locus that overlapped two protocadherin genes, PCDHB7 and PCDHB8, which are brain function-related genes (P-value=6.40 × 10 -4 , odds ratio=2.2189). A subsequent replication analysis using WES data from 203 obese and 291 normal weight children showed that this CNV region satisfied the genome-wide significance standard (Fisher's combined P-value=3.76 × 10 -5 ). Moreover, correlation test using 199 additional samples supported significant association between CNV and increased body mass index. This region also showed a meaningful association with 273 cases and 2596 controls in adult samples. Our findings suggest that differences in the common CNV region at 5q31.3 may have an impact on the pathophysiology of obesity.

Background/objectives: Maternal serum triglyceride (TG) level is known to be associated with neonatal birth weight. Although Koreans traditionally consume relatively high amounts of grain and grain products, mainly in the form of white rice, and the consumption is positively associated with serum TG levels, no study has investigated the relationship between dietary grain intake, serum TG levels and neonatal birth weight in pregnant women. This study was conducted to identify the association between infant birth weight and maternal intake of grain, as well as serum TG levels., Subjects/methods: Subjects were 1011 pregnant women at 12-28 weeks' gestational age and their offspring. Maternal serum TG levels, dietary intake and infant birth weight were measured., Results: Serum TG levels were positively related to neonatal birth weight both at mid-pregnancy (P=0.0015) and at late pregnancy (P<0.0001). Such an association only existed in subjects with the highest tertile of grain intake at mid-pregnancy (P=0.0055) but was observed in all tertiles at late pregnancy (1st P=0.0186, 2nd P=0.0146, 3rd P=0.0099)., Conclusions: The relationship between maternal TG levels and infant birth weight may depend on dietary grain intake and stages of pregnancy in Korean pregnant women.

Background: Botulinum toxin is a well-established treatment for dynamic glabellar lines. The glabella is in fact, the most common site for botulinum toxin injection in Asians. Previous studies have identified five glabellar contraction patterns according to the predominance of eyebrow approximation, depression or elevation. Unfortunately, the authors found the former classification somewhat confusing., Objective: To identify and classify glabellar wrinkle patterns in Koreans for a better treatment approach. We also aimed to provide an Asian consensus recommendation for the individual wrinkle pattern., Methods: A retrospective photographic analysis of 139 Korean patients who received botulinum toxin for the first time to treat glabellar wrinkles was conducted. The wrinkle patterns were identified and classified by a panel of experienced Korean dermatologists, based on the prevalence of perpendicular and transverse glabellar lines, the nasal wrinkles and the forehead wrinkles. The panel also convened to develop a clinical consensus on the individual wrinkle pattern in Asians., Results: Five patterns were identified: (1) 'U', (2) '11', (3) 'X', (4) 'π (Phi)' and (5) 'I'. The classification method allowed indentifying the most important muscles in each wrinkle pattern. The consensus recommendation addressed the most heavily used muscles to receive higher doses and to be injected into a larger number of sites. Those less solicited muscles were left untreated or received lower doses, allowing for more effective and natural results., Conclusion: Interpersonal differences in facial animation exist among Koreans. We hope our simple glabellar wrinkles classification enables a more accurate, individualized treatment with botulinum toxin in Asians., (© 2013 European Academy of Dermatology and Venereology.)

Background and Aims: Adiponectin plays important roles in the regulation of insulin action and metabolism of glucose and lipids. We investigated whether ADIPOQ genetic variants are associated with serum lipid levels in Korean children and whether those influences might be modulated by dietary factors such as dietary monounsaturated fatty acid to saturated fatty acid ratio (MUFA:SFA)., Method and Results: The study included a population-based sample of 687 children aged 7-11 years in Gwacheon city, Kyunggi Province, Korea. Anthropometric and biochemical measurements and ADIPOQ genotype (-11377 C/G, +45 T/G, and +276 G/T) were determined. Dietary intake was estimated with a self reported 3-day food diary. The -11377 G allele carriers had significantly higher serum total cholesterol and LDL cholesterol compared to non-carriers. When dietary MUFA:SFA ratio was dichotomized (MUFA:SFA ≥ 1 or <1), the aggravating effects of the minor allele on serum total and LDL cholesterol were only present when the MUFA:SFA ratio was <1. Additionally, we observed that the ADIPOQ haplotype influenced serum total and LDL cholesterol levels. G-T-G haplotype carriers had higher total and LDL cholesterol levels than non-G-T-G carriers. The deleterious effect of ADIPOQ G-T-G haplotype to increase serum total and LDL cholesterol could be seen only when the MUFA:SFA ratio was <1., Conclusion: In this present study, we found interaction effects between ADIPOQ genetic variants and dietary MUFA:SFA ratio on serum lipid levels in Korean children. These results suggest that individual genetic information and dietary fatty acid intake information should be assessed together to achieve an effective outcome for reducing the atherogenic lipid profile., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Aims: Fatty liver disease, especially non-alcoholic fatty liver disease, is considered to be the hepatic manifestation of the metabolic syndrome, both closely associated with insulin resistance. Furthermore, fatty liver disease assessed by ultrasonography is known to be a predictor of the development of Type 2 diabetes mellitus. However, it remains unclear whether fatty liver disease plays a role in the pathogenesis of Type 2 diabetes independently of insulin resistance. In this study, we investigated whether fatty liver disease assessed by the fatty liver index can predict the development of Type 2 diabetes independently of systemic insulin resistance., Methods: We examined the clinical and laboratory data of 7860 subjects without diabetes who underwent general routine health evaluations at the Asan Medical Center in 2007 and had returned for follow-up examinations in 2011. Fatty liver index was calculated using an equation that considers serum triglyceride levels, γ-glutamyltransferase, waist circumference and BMI., Results: During a 4-year period, 457 incident diabetes cases (5.8%) were identified. The odds ratios for the development of Type 2 diabetes were significantly higher in the group with a fatty liver index ≥ 60 (fatty liver index-positive) than in the group with a fatty liver index < 20 (fatty liver index-negative) after adjusting for various confounding variables including homeostasis model assessment of insulin resistance. Odds ratios were significant regardless of the insulin resistance status at baseline., Conclusions: Our results suggest that fatty liver index as a simple surrogate indicator of hepatic steatosis is valuable in identifying subjects at high risk for Type 2 diabetes. In addition, fatty liver disease itself contributes to the development of Type 2 diabetes independently of systemic insulin resistance., (© 2012 The Authors. Diabetic Medicine © 2012 Diabetes UK.)

The concentration of micronutrients impacts fetal development and pregnancy outcome and has been suggested to be negatively correlated with the body-mass index (BMI). We evaluated the relationship between BMI and the serum folate concentration in 802 and 660 Korean pregnant women in mid- and late pregnancy, respectively, who participated in a multicenter prospective study. There was a significant negative correlation between BMI value and the serum folate concentration at mid- and late pregnancy (P for trend 0.001 and 0.024, respectively). A general linear model confirmed this correlation at both time points after adjusting for gestational age and total folate intake. These findings are important as the serum folate concentration is a rate-limiting factor for placental folate transport to the fetus, and an inadequate folate supply may cause various malformations.