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Vierkotter A.,IUF Leibniz Research Institute for Environmental Medicine | Huls A.,IUF Leibniz Research Institute for Environmental Medicine | Yamamoto A.,Nagoya City University | Stolz S.,IUF Leibniz Research Institute for Environmental Medicine | And 12 more authors.
Journal of Dermatological Science | Year: 2016

Background: It has been suggested that extrinsic skin ageing manifests differently in Caucasians versus East Asians. In particular, from previous studies it was concluded that Caucasians are more prone to develop wrinkles, whereas pigment spot formation is the hallmark of extrinsic skin ageing in East Asians. However, these assumptions are based on a very limited number of studies which did not include different East Asian populations. Objective: We here compare the manifestation of extrinsic skin ageing signs in German, Japanese and Chinese women by specifically elucidating the age and anatomical site dependence of any potential ethnic difference. Methods: In the present study, we assessed skin ageing in N = 902 German, N = 165 Japanese and N = 1260 Chinese women ranging from 30 to 90 years by means of SCINEXA™. Linear regression analysis was used to test for ethnic differences and their age and site dependence adjusted for educational level, sun exposure, smoking and sun protection behaviours. Results: Pigment spots and wrinkles on the face were present among all three ethnic groups and differences were influenced by age and anatomical sites independently of further influencing factors. Pigment spots on the forehead were most pronounced over the whole age range in Chinese and German women and least developed in Japanese. Pigment spots on cheeks were a typical extrinsic skin an ageing sign in the two East Asian populations in all age groups. However, in older German women they reach the same level as observed in the two East Asian populations. In contrast, pigment spots on arms and hands were significantly more pronounced in German women ≥45years of age. Wrinkles were not exclusively a skin an ageing sign of German women, but were also very pronounced in Chinese women on forehead, between the eyebrows and in the crow's feet area. Conclusion: These results corroborate the previous notion that the occurrence of pigments spots and wrinkles is different between Caucasians and East Asians. In addition, this study shows that this difference depends on age and anatomical site and that it also differs between different ethnic groups from East Asia. © 2016 Japanese Society for Investigative Dermatology.


Li M.,IUF Leibniz Research Institute for Environmental Medicine | Li M.,CAS Shanghai Institutes for Biological Sciences | Li M.,China Medical City Institute of Health science | Li M.,Fudan University | And 26 more authors.
Journal of Dermatological Science | Year: 2015

Background: Recently, we showed that outdoor air pollution exposure from traffic and industry is associated with an increased risk of skin aging in Caucasian women. In China, indoor air pollution exposure caused by the use of solid fuels like coal is a major health problem and might also increase the risk of skin aging in Chinese women. : Objective: As cooking with solid fuels is a major source of indoor air pollution exposure in China, we aimed to test if cooking with solid fuels is associated with more pronounced skin aging in Chinese women. : Methods: We conducted two cross-sectional studies in China to assess the association between cooking with solid fuels and signs of skin aging. In Pingding (in northern China) we assessed N = 405 and in Taizhou (in southern China) N = 857 women between 30 and 90 years of age. Skin aging was evaluated by the SCINEXA™ score. Indoor air pollution exposure, sun exposure, smoking and other confounders were assessed by questionnaires. Associations were then tested by linear and logistic regression analyses adjusted for further confounders. : Results: The analysis showed that cooking with solid fuels was significantly associated with a 5-8% more severe wrinkle appearance on face and an 74% increased risk of having fine wrinkles on back of hands in both studies combined, independent of age and other influences on skin aging. : Conclusion: The present studies thus corroborate our previous finding that air pollution is associated with skin aging and extend it by showing that indoor air pollution might be another risk factor for skin aging. © 2015 Published by Elsevier Ireland Ltd on behalf of Japanese Society for Investigative Dermatology.


Yang J.,Fudan University | Yang J.,China Medical City Institute of Health science | Yang Y.,Shanghai University | Xia M.,Fudan University | And 17 more authors.
BMC Cancer | Year: 2016

Background: To investigate whether genetic variants of the HBV receptor gene NTCP are associated with HBV infection in the Han Chinese population. Methods: We sequenced the entire 23 kb NTCP gene from 111 HBeAg-positive HBsAg carriers (PSE group), 110 HBeAg-negative HBsAg carriers (PS group), and 110 control subjects. Then, we performed association analyses of suggestively significant SNPs with HBV infection in 1075 controls, 1936 PSs and 639 PSEs. Results: In total, 109 rare variants (74 novel) and 38 single nucleotide polymorphisms (SNPs, one novel) were screened. Of the seven non-synonymous rare variants, six were singletons and one was a double hit. All three damaging rare singletons presented exclusively in the PSE group. Of the five SNPs validated in all 3650 subjects, the T allele of rs4646287 was significantly decreased (p = 0.002) in the PS group (10.1 %) and PSE group (8.1 %) compared to the controls (10.9 %) and was decreased to 7.4 % in the PSE hepatocellular carcinoma (HCC) subgroup. Additionally, rs4646287-T was associated with a 0.68-fold (95 % CI = 0.51-0.89, p = 0.006) decreased risk of PSE compared with the controls. The NTCP mRNA level was lower in HCC tissues in "CT + TT" carriers than in "CC" carriers. Conclusions: We found a genetic variant (rs4646287) located in intron 1 of NTCP that may be associated with increased risk of HBV infection in Han Chinese. © 2016 Yang et al.


Liu Y.,Jiangsu Taizhou Peoples Hospital | Li S.,Fudan University | Li S.,China Medical City Institute of Health science | Chen X.,Fudan University | And 8 more authors.
Clinical and Experimental Hypertension | Year: 2012

To investigate whether natriuretic peptide receptor-C (NPR3) gene polymorphisms were associated with ischemic stroke (IS) and hypertension (a conventional risk factor for stroke), we conducted a case-control study in Chinese Han population. We found that rs696831, located in intron 2, was associated with IS. In addition, we found that rs16890208 and rs700925, in linkage disequilibrium (LD) with each other in intron 3, were associated with hypertension. The A allele of the rs16890208, T allele of the rs700925, and the AT haplotype, derived from rs16890208 and rs700925, increased the risk of hypertension with odds ratios (ORs) of 1.74 (95% CI = 1.23-2.47), 1.72 (95% CI = 1.21-2.42), and 1.54 (95% CI = 1.14-2.08), respectively. Further, we found that rs11745562 and rs2270915, in LD with each other in intron 5 and exon 8, were associated with hypertension. The A allele of the rs11745562 and the G allele of the rs2270915 increased the risk of hypertension with ORs of 1.53 (95% CI = 1.07-2.19) and 1.55 (95% CI = 1.08-2.22), respectively. Therefore, we provided novel evidences that polymorphisms or haplotype in NPR3 gene may influence the risk of IS or hypertension independently in Chinese population. © 2012 Informa Healthcare USA, Inc.


Chen X.-d.,Fudan University | Chen X.-d.,China Medical City Institute of Health science | Yang Y.-j.,Fudan University | Yang Y.-j.,China Medical City Institute of Health science | And 10 more authors.
PLoS ONE | Year: 2012

Background: Potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) is thought to be an important candidate gene of diabetes. Several single nucleotide polymorphisms (SNPs) in a 40-kb linkage disequilibrium (LD) block in its intron 15 have been identified to be associated with diabetes in East Asian populations in recent genome-wide association studies. The aim of this study was to investigate whether KCNQ1 polymorphisms influence the levels of the metabolic phenotypes in general Chinese populations. Methodology/Principal Findings: We investigated the associations of two SNPs (rs2237892 and rs2237895) in the aforementioned 40-kb LD block, a missense variant rs12720449 (P448R) in exon 10, and a synonymous variant rs1057128 (S546S) in exon 13 with metabolic phenotypes in a Uyghur population (n = 478) and replicated these associations in a Han population (n = 2,485). We found that rs2237892-T allele was significantly associated with decreased triglyceride levels (p combined = 0.001). The minor G allele of the rs12720449, with sharp difference of the allelic frequency between European and East Asian populations (0.2% versus 14%, respectively), was associated with a lower triglyceride levels than G allele in Uyghur subjects (p = 0.004), in Han subjects (p = 0.052), and in subjects of meta-analysis (p combined = 0.001). Moreover, the minor A allele of the rs1057128 was also associated with decreased triglyceride levels in meta-analysis (p combined = 0.010). Conclusions: To the best of our knowledge, this is the first report associating a missense mutation of KCNQ1, rs12720449, with triglyceride levels. Rs2237892, representing the 40-kb LD block, is also associated with triglyceride levels in Han population. Further studies are required to replicate these findings in other East Asian populations. © 2012 Chen et al.


Chen X.,Fudan University | Chen X.,China Medical City Institute of Health science | Li S.,Fudan University | Li S.,China Medical City Institute of Health science | And 10 more authors.
Journal of Thrombosis and Haemostasis | Year: 2012

Background: Genetic variants influencing lipid levels and risk of coronary artery disease (CAD) have been identified by recent genome-wide association studies (GWAS). Objectives: To test the association of single nucleotide polymorphisms (SNPs) implicated in lipoprotein metabolism and CAD in GWAS with atherosclerotic cardiovascular disease (ASCVD, including ischemic stroke [IS] and myocardial infarction [MI] phenotypes). Patients and methods: A two-stage genetic association study was conducted in the Chinese Hans population. Stage I included a cohort with 451 IS cases and 462 controls for association analysis using 92 SNPs. Stage II examined the associations of eight positive variants and five additional variants with IS, MI and ASCVD in a cohort with 779 IS cases and 836 controls and a cohort with 824 MI cases and 737 controls. Results: The T allele of rs4731702 located near the KLF14 gene was associated with a decreased risk of MI with an odds ratio (OR) of 0.72 (P<3.85×10-3). The rs4731702-T allele was also associated with a decreased risk of ASCVD with an OR of 0.78 (Pmeta-analysis<5.43×10-4). In addition, we found that a missense variant of KLF14, rs111400400 (Ser58Pro), was associated with MI. Conclusion: Genetic variants newly identified near/in the KLF14 gene were implicated in the aetiology of atherosclerotic-related phenotypes. © 2012 International Society on Thrombosis and Haemostasis.


Tan J.Z.,Fudan University | Tan J.Z.,China Medical City Institute of Health science | Peng Q.Q.,Chinese Academy of Sciences | Li J.X.,Chinese Academy of Sciences | And 9 more authors.
Science China Life Sciences | Year: 2014

Teeth are one of the most important materials for anthropological studies because they are likely to be preserved in ancient remains. While the frequencies of dental characteristics can provide clues to the phylogeny of populations, genetic studies at the individual level can further reveal the biological mechanisms and evolutionary context of dental characteristics. In this study, by analyzing 38 dental characteristics of 242 Xinjiang Uyghur individuals, we found that (i) the dental characteristics of the Uyghurs showed evidence of admixture between European and East Asian populations. The admixture proportions were in line with those previously reported in population genetic studies; (ii) the Xinjiang Uyghur dental characteristics formed three clusters in pairwise correlation analysis. One of the main clusters consisted of characteristics including incisor shoveling, double shoveling and mesial ridge; and (iii) all the characteristics in this cluster were significantly correlated with the genetic variant EDARV370A. The extracted composite phenotypic factor was also significantly associated with EDARV370A, which explained 18% of the total phenotypic variance. This indicated a pleiotropic effect, i.e., the same genetic factor affects a number of dental characteristics at the same time. Our results confirmed that EDARV370A, a genetic variant that first originated in East Asia about 30000 years ago, played an important role in incisor shoveling in East Asia. This finding suggested that incisor shoveling in modern humans in East Asia is likely to have appeared after the late Pleistocene. © 2014 The Author(s).


Qin Z.,Fudan University | Yang Y.,Fudan University | Yang Y.,China Medical City Institute of Health science | Kang L.,Fudan University | And 13 more authors.
American Journal of Physical Anthropology | Year: 2010

As the highest plateau surrounded by towering mountain ranges, the Tibetan Plateau was once considered to be one of the last populated areas of modern humans. However, this view has been tremendously changed by archeological, linguistic, and genetic findings in the past 60 years. Nevertheless, the timing and routes of entry of modern humans into the Tibetan Plateau is still unclear. To make these problems clear, we carried out high-resolution mitochondrial-DNA (mtDNA) analyses on 562 Tibeto-Burman inhabitants from nine different regions across the plateau. By examining the mtDNA haplogroup distributions and their principal components, we demonstrated that maternal diversity on the plateau reflects mostly a northern East Asian ancestry. Furthermore, phylogeographic analysis of plateau-specific sublineages based on 31 complete mtDNA sequences revealed two primary components: pre-last glacial maximum (LGM) inhabitants and post-LGM immigrants. Also, the analysis of one major pre-LGM sublineage A10 showed a strong signal of post-LGM population expansion (about 15,000 years ago) and greater diversity in the southern part of the Tibetan Plateau, indicating the southern plateau as a refuge place when climate dramatically changed during LGM. © 2010 Wiley-Liss, Inc.


Chen T.,Shandong University | Lu M.,Shandong University | Lu M.,Fudan University | Lu M.,China Medical City Institute of Health science | And 9 more authors.
BMC Gastroenterology | Year: 2012

Background: Data about prevalence of gastroesophageal reflux diseases (GERD) from Asian populations are still scarce. To provide additional data on prevalence of GERD and investigate its potential risk factors, we performed this cross-sectional study in the Taizhou Retiree Cohort.Methods: After physical examination, the participants were asked whether they suffered with heartburn or acid regurgitation in the last 12 months by trained interviewers, and if yes, the severity and frequency of the symptoms were recorded. Odds ratios (ORs) with 95% confidence intervals (CIs) for the associations of obesity and other risk factors with GERD were derived from logistic regression models.Results: 8831 retirees completed the questionnaire and physical examination. In total 150 (1.7%) reported the symptoms occurring at least once per week within the last 12 months before the interview. Compared with subjects without GERD, having a history of diabetes mellitus (OR 2.2, 95% CI 1.4-3.5), hypertension (OR 1.4, 95% CI 1.0-2.1), gastritis (OR 8.2, 95% CI 5.8-11.5), peptic ulcer (OR 3.3, 95% CI 1.8-6.1) and high triglyceride level (≥1.81mmol/L) (OR 2.0, 95% CI 1.2-3.4) were associated with a significantly increased risk of GERD. However, there was no significant association between body mass index, waist-to-hip ratio or waist alone, smoking, consumption of alcohol & tea, and the occurrence of reflux symptoms.Conclusions: Compared with Western populations, the prevalence of GERD in this Chinese retiree cohort is low. A history of diabetes mellitus, hypertension, gastritis, peptic ulcer or hypertriglyceridaemia increases GERD risk in this population. © 2012 Chen et al.; licensee BioMed Central Ltd.

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