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Tan J.,Fudan University | Tan J.,CMC Institute of Health science | Yang Y.,Fudan University | Yang Y.,CMC Institute of Health science | And 9 more authors.
Human Genetics | Year: 2013

Hair straightness/curliness is a highly heritable trait amongst human populations. Previous studies have reported European specific genetic variants influencing hair straightness, but those in East Asians remain unknown. One promising candidate is a derived coding variant of the ectodysplasin A receptor (EDAR), EDARV370A (370A), associated with several phenotypic changes of epidermal appendages. One of the strongest signals of natural selection in human genomes, 370A, has risen to high prevalence in East Asian and Native American populations, whilst being almost absent in Europeans and Africans. This striking frequency distribution and the pleiotropic nature of 370A led us to pursue if hair straightness, another epidermal appendage-related phenotype, is affected by this variant. By studying 1,718 individuals from four distinctive East Asian populations (Han, Tibetan, Mongolian, and Li), we found a significant association between 370A and the straight hair type in the Han (p = 2.90 × 10-6), Tibetan (p = 3.07 × 10-2), and Mongolian (p = 1.03 × 10-5) populations. Combining all the samples, the association is even stronger (p = 5.18 × 10-10). The effect of 370A on hair straightness is additive, with an odds ratio of 2.05. The results indicate very different biological mechanisms of straight hair in Europe and Asia, and also present a more comprehensive picture of the phenotypic consequences of 370A, providing important clues into the potential adaptive forces shaping the evolution of this extraordinary genetic variant. © 2013 Springer-Verlag Berlin Heidelberg.


Peng Q.-Q.,Fudan University | Basang Z.,Tibet University | Cui C.-Y.,Tibet University | Li L.,Fudan University | And 15 more authors.
PLoS ONE | Year: 2013

High altitude acclimatization is a series of physiological responses taking places when subjects go to altitude. Many factors could influence these processes, such as altitude, ascending speed and individual characteristics. In this study, based on a repeated measurement design of three sequential measurements at baseline, acute phase and chronic phase, we evaluated the effect of BMI, smoking and drinking on a number of physiological responses in high altitude acclimatization by using mixed model and partial least square path model on a sample of 755 Han Chinese young males. We found that subjects with higher BMI responses were reluctant to hypoxia. The effect of smoking was not significant at acute phase. But at chronic phase, red blood cell volume increased less while respiratory function increased more for smoking subjects compared with nonsmokers. For drinking subjects, red blood cell volume increased less than nondrinkers at both acute and chronic phases, while blood pressures increased more than nondrinkers at acute phase and respiratory function, red blood cell volume and oxygen saturation increased more than nondrinkers at chronic phase. The heavy and long-term effect of smoking, drinking and other factors in high altitude acclimatization needed to be further studied. © 2013 Peng et al.


Kang L.,Fudan University | Kang L.,Tibet University | Lu Y.,Fudan University | Wang C.,Fudan University | And 9 more authors.
Annals of Human Genetics | Year: 2012

The eastern Himalayas are located near the southern entrance through which early modern humans expanded into East Asia. The genetic structure in this region is therefore of great importance in the study of East Asian origins. However, few genetic studies have been performed on the Sino-Tibetan populations (Luoba and Deng) in this region. Here, we analyzed the Y-chromosome diversity of the two populations. The Luoba possessed haplogroups D, N, O, J, Q, and R, indicating gene flow from Tibetans, as well as the western and northern Eurasians. The Deng exhibited haplogroups O, D, N, and C, similar to most Sino-Tibetan populations in the east. Short tandem repeat (STR) diversity within the dominant haplogroup O3 in Sino-Tibetan populations showed that the Luoba are genetically close to Tibetans and the Deng are close to the Qiang. The Qiang had the greatest diversity of Sino-Tibetan populations, supporting the view of this population being the oldest in the family. The lowest diversity occurred in the eastern Himalayas, suggesting that this area was an endpoint for the expansion of Sino-Tibetan people. Thus, we have shown that populations with haplogroup O3 moved into the eastern Himalayas through at least two routes. © 2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London.


Jiang X.-Y.,Tongji University | Chen Y.,Jinan Maternity and Child Care Hospital | Xu L.,Jinan Maternity and Child Care Hospital | Li X.,Jinan Maternity and Child Care Hospital | And 7 more authors.
Experimental and Clinical Endocrinology and Diabetes | Year: 2010

Recently, two single nucleotide polymorphisms, rs4355801 near the osteoprotegerin (OPG) gene and rs3736228 in the low-density lipoprotein receptor-related protein 5 (LRP5) gene, were found to be associated with osteoporosis and osteoporotic fractures in Caucasians in a genome wide association study. In the present study, we investigated the association between these two SNPs (rs4355801 and rs3736228) and bone mass density (BMD), whole body T score and metabolic phenotypes (e.g., body mass index, glucose, triglyceride, and total cholesterol) in 425 Chinese Han subjects. We observed a significant association between rs3736228 in LRP5 and hip BMD, total BMD, and T score. The level of hip BMD, total BMD, and T score was significantly reduced with the number of at risk T alleles (p=0.006, p=0.003, and p=0.006, respectively). This finding was still significant after accounting for gender and age. We also observed a significant association between rs3736228 and total cholesterol (CHO) levels in our sample. The CHO levels of the CC, CT, and TT genotypes were 4.71, 4.76, and 5.24, respectively (p=0.031). For OPG rs4355801, the level of hip BMD, spine BMD, and total BMD was consistently reduced in persons with the copy of A allele, but none of these findings were statistically significant. We also did not observe a significant association between the above two polymorphisms and body mass index, glucose, and triglyceride levels in Chinese Han subjects. Thus, our observations support the association between rs3736228 and BMD in Han subjects. We also provide first evidence that the T allele of rs3736228 increases the total cholesterol level in a general Han population. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart.


Zhuang M.,Shandong University | Yang Y.,Fudan University | Yang Y.,CMC Institute of Health science | Cao F.,Shandong University | And 12 more authors.
Gene | Year: 2012

The aim of this study was to investigate associations of two candidate gene SNPs of the endocannabinoid receptor type 1 gene (CNR1) with overweight, obesity and obesity-related traits in Chinese retired women. The study subjects were a subsample of the Taizhou Retiree Women Cohort, consisting of 2812 retired women aged 50-64. years recruited from Taizhou, Jiangsu, China. Neither rs2023239 nor rs806381 polymorphism was significantly associated with body mass index-defined overweight and obesity or waist-to-hip-ratio-defined obesity. For obesity-related traits, rs2023239 was significantly associated with glutamate pyruvate transaminase (GPT) (median, 18.00 vs 17.00 for TT and TC genotypes, respectively, P=0.043). The rs806381 also showed significant association with triglyceride (TG) (mean ± SD, 1.46 ± 0.20 vs 1.53 ± 0.20 for GA and GG. +. AA genotypes, respectively, P=0.013) under the dominant genetic model. In conclusion, the rs2023239 and rs806381 polymorphisms of CNR1 were not associated with increased overweight and obesity risk. But the rs2023239 polymorphism was significantly associated with GPT, and the rs806381 polymorphism was significantly associated with TG. © 2011 Elsevier B.V.


Hu B.,Fudan University | Hu B.,CMC Institute of Health science | Lin L.F.,Fudan University | Lin L.F.,CMC Institute of Health science | And 13 more authors.
Public Health | Year: 2015

Objective: To examine the test-retest reliabilities and relative validities of the Chinese version of short International Physical Activity Questionnaire (IPAQ-S-C), the Global Physical Activity Questionnaire (GPAQ-C), and the Total Energy Expenditure Questionnaire (TEEQ-C) in a population-based prospective study, the Taizhou Longitudinal Study (TZLS). Study design: A longitudinal comparative study. Methods: A total of 205 participants (male: 38.54%) aged 30-70 years completed three questionnaires twice (day one and day nine) and physical activity log (PA-log) over seven consecutive days. The test-retest reliabilities were evaluated using intra-class correlation coefficients (ICCs) and the relative validities were estimated by comparing the data from physical activity questionnaires (PAQs) and PA-log. Results: Good reliabilities were observed between the repeated PAQs. The ICCs ranged from 0.51 to 0.80 for IPAQ-C, 0.67 to 0.85 for GPAQ-C, and 0.74 to 0.94 for TEEQ-C, respectively. Energy expenditure of most PA domains estimated by the three PAQs correlated moderately with the results recorded by PA-log except the walking domain of IPAQ-S-C. The partial correlation coefficients between the PAQs and PA-log ranged from 0.44 to 0.58 for IPAQ-S-C, 0.26 to 0.52 for GPAQ-C, and 0.41 to 0.72 for TEEQ-C, respectively. Bland-Altman plots showed acceptable agreement between the three PAQs and PA-log. Conclusion: The three PAQs, especially TEEQ-C, were relatively reliable and valid for assessment of physical activity and could be used in TZLS. © 2015 The Royal Society for Public Health.


Hu H.,Fudan University | Yang J.,Fudan University | Sun Y.,Fudan University | Yang Y.,Fudan University | And 15 more authors.
Annals of Surgical Oncology | Year: 2012

Background. A novel variant rs2274223 located in the phospholipase C epsilon 1 (PLCE1) gene was found to be associated with risk of esophageal squamous cell carcinoma (ESCC) by 2 large-scale genome-wide association studies (GWASs) in Chinese populations. In this study, we aimed to assess such an association in an eastern Chinese population and to address its possibly functional role in the etiology of ESCC. Methods. A total of 1061 ESCC cases and 1211 controls were recruited and successfully genotyped for 2 single nucleotide polymorphisms (SNPs) (rs2274223 and rs11187870) of the PLCE1 gene by the TaqMan assay. Realtime PCR and immunohistochemical (IHC) analysis were applied to assess mRNA and protein expression levels, respectively, in a subset of tumor samples. Results. SNP rs2274223 was independently associated with risk of ESCC (adjusted odds ratio [OR], 1.49; 95% confidence interval [95% CI], 1.03-2.17 for GG vs AA), and SNP rs11187870 was also found to be associated with risk of ESCC assuming a dominant model (adjusted OR, 1.20; 95% CI, 1.00-1.44 for CG/CC vs GG). The Grs2274223Crs11187870 haplotype increased the risk for ESCC by 1.22-fold (95% CI, 1.04-1.42). Further experiments showed that overall PLCE1 mRNA expression was lower in tumor than in paired normal tissues (0.067 ± 0.016 vs 0.264 ± 0.067, P<.05), and the IHC analysis showed the normal tissues of rs2274223 GG genotype had a lower PLCE1 staining score than that of the AG genotype (0.40 ± 0.22 vs 1.33 ± 0.32, P<.05). Conclusions. PLCE1 SNP rs2274223 A>G change may reduce gene expression, and the variant G genotypes might contribute to risk of ESCC. © 2012 Society of Surgical Oncology.


PubMed | Fudan University, CMC Institute of Health science and Shandong University
Type: Journal Article | Journal: PloS one | Year: 2013

To investigate the association of Mannose-binding lectin (MBL) and the MBL2 gene with type 2 diabetes and diabetic nephropathy and the influence of MBL2 polymorphisms on serum MBL levels.The study population included 675 type 2 diabetic patients with or without nephropathy and 855 normoglycemic controls. The single nucleotide polymorphisms (SNPs) of rs1800450, rs1800451, and rs11003125 of the MBL2 gene were determined by the Multiplex Snapshot method. Serum MBL levels were measured by enzyme-linked immune sorbent assay.Rs1800450 and rs11003125 SNPs demonstrated strong linkage disequilibrium in the study population (r(2)=0.97). The haplotypes constructed from the G allele of rs1800450 and the C allele of rs11003125 increased the risk for type 2 diabetes (OR=1.2, 95% CI=1.1-1.4, P=0.01). For rs1800450, GG and GA genotypes were associated with type 2 diabetes (P=0.02, 0.01, respectively). For rs11003125, the GC genotype frequency was significantly different between patients and controls (18.1% vs. 24.9%, P=0.001). Analyses of genotypes and allele frequency distributions among patients with normal UAE, microalbuminuria, and macroalbuminuria showed that there was no obvious evidence of association between the MBL2 gene and diabetic nephropathy. Subjects with the GG genotype of rs1800450 and the CC genotype of rs11003125 had much higher serum MBL levels.The rs1800450 and rs11003125 SNPs of the MBL2 gene have strong linkage disequilibrium and are associated with type 2 diabetes in the North Chinese Han population. No association was observed between the MBL2 gene and diabetic nephropathy. Subjects with the GG genotype of rs1800450 and the CC genotype of rs11003125 had much higher serum MBL levels. An association between elevated serum MBL and diabetic nephropathy was also observed.


Jiang X.-Y.,Tongji University | Chen H.-H.,Tongji University | Cao F.-F.,Shandong University | Li L.,Fudan University | And 6 more authors.
Endocrine | Year: 2010

To investigate the association of single nucleotide polymorphism (SNP) rs4355801 near osteoprotegerin (OPG) gene and rs3736228 in low-density lipoprotein receptor-related protein 5 (LRP5) gene with metabolic phenotypes [body mass index (BMI), waist-hip ratio, glucose, total cholesterol (CHO), and triglyceride], we carried out a population-based association study in Uyghur population living in Xinjiang Uyghur Autonomous Region of China. We observed a significant higher level of BMI in AG/AA carriers than in GG carriers (P = 0.022) for rs4355801. Subjects with the AG/GG genotype significantly increased the risk of BMI related obesity than subjects with the AA genotype, with an odds ratio of 1.31 (95% CI 1.09-1.56, P = 0.005). The association remained significant after controlling for covariates of age and gender. In addition, we observed a significant higher level of CHO in CT/TT carriers than in CC carriers (P = 0.021) for rs3736228. Our observations provide the first evidence that rs4355801 near OPG gene may confer susceptibility to obesity. In addition, SNP rs3736228 in LPR5 gene may affects the level of CHO in Uyghur population. © 2010 Springer Science+Business Media, LLC.


Li C.,Institute of Forensic science | Ma T.,Fudan University | Zhao S.,Institute of Forensic science | Zhang S.,Institute of Forensic science | And 7 more authors.
International Journal of Legal Medicine | Year: 2011

X-chromosomal short tandem repeats (X-STRs) loci are used for forensic practice in recent years which play increasingly important roles in some complex kinship cases. In this paper, a new multiplex polymerase chain reaction (PCR) system which can simultaneously analyze 11 X-STR markers (DXS8378, DXS6795, DXS7132, DXS6803, DXS9898, DXS6801, DXS7133, GATA165B12, HPRTB, DXS8377 and DXS7423) was developed. The samples of 1,605 (742 males and 863 females) unrelated individuals from Tibetan and Northern Han population were successfully analyzed using this multiplex system. A total of 103 alleles for all the loci were observed. Hardy-Weinberg equilibrium tests demonstrated no significant deviation from expected values (P∈>∈0.05) for all of the 11 X-STR loci in the two studied populations. Polymorphism information contents of the loci were 0.3864-0.9013, and powers of discrimination in females of the loci were 0.6317-0.9845. There were no statistically significant differences between Tibetan and Northern Han populations in allele distribution of the 11 X-STR loci, in line with analysis of molecular variance (AMOVA) results. Our work indicates that this multiplex system is useful for forensic analysis for the two populations in China. © 2011 Springer-Verlag.

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