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ABSTRACT: To assess the association between SIRT1 gene polymorphisms and the longevity phenomena in Yongfu region of Guangxi. In this case-control study, 500 individuals from Yongfu region of Guangxi were recruited. The subjects were divided into a longevity group (n=223, average age=93.17 U+00B1 3.08 yr) and a healthy control group (n=277, average age=46.92 U+00B1 17.12 yr). Polymerase chain reaction-high resolution melting curve (PCR-HRM) and DNA sequencing were used to determine the allelic and genotypic frequencies of rs3758391, rs3740051, rs2273773, rs4746720 and rs10997870 polymorphisms of SIRT1 gene in the two groups. The association between above polymorphisms and longevity was assessed.
In the longevity group, CT genotype of the rs4746720 locus was significantly more common than CC and TT genotypes (P=0.000, OR=2.098, 95%CI:1.412-4.117). However, no significant difference was found in the allelic and genotypic frequencies of rs3758391, rs3740051 and rs2273773 between the two groups.
There is an association between rs4746720 of SIRT1 gene and longevity in Yongfu region of Guangxi.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 02/2013; 30(1):55-9.
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ABSTRACT: To assess the role of small ubiquitin-like modifier 4 (SUMO4) gene polymorphisms (rs237025, rs237024 and rs600739) in the susceptibility to coronary artery disease (CAD) with and without type 2 diabetes mellitus (T2DM) in Chinese Han ethnic population in Beijing.
In this case-control study, 558 subjects with angiography-proven CAD were divided into two groups according to the WHO 1999 criteria: 369 with normal glucose tolerance (CAD group) and 189 with T2DM (T2DM+ CAD group). Meanwhile 500 healthy subjects free of T2DM and CAD were selected as normal controls (control group). Allelic and genotypic distributions of the three single nucleotide polymorphisms (SNPs) were determined with polymerase chain reaction-high resolution melting curve (PCR-HRM) and gene sequencing. Clinical and biochemical data were compared among carriers of different genotypes through a stratified analysis.
No significant difference was found in the distribution of genotypes and alleles of each SNP between different groups (P> 0.05). Nevertheless, stratified analysis indicated a significant difference in plasma triglycerides (rs237025) and body mass index (rs600739) among individuals of different genotypes from the T2DM+ CAD group (P= 0.020 and P= 0.049, respectively). Multiple comparison also indicated that GG genotype of rs237025 had a higher level of plasma triglycerides than AA genotype (P< 0.01).
No association between SUMO4 gene polymorphisms and CAD with and without T2DM was detected. Such polymorphisms may not be a risk factor for Chinese Han ethnic patients in Beijing.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 10/2012; 29(5):596-601.
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Huaixing Li,
Wei Gan,
Ling Lu,
Xiao Dong,
Xueyao Han,
Cheng Hu,
Zhen Yang,
Liang Sun,
Wei Bao,
Pengtao Li, [......],
Frank B Hu,
Tangchun Wu,
Ying Liu,
Liegang Liu, Ze Yang,
Renming Hu,
Weiping Jia,
Linong Ji,
Yixue Li,
Xu Lin
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ABSTRACT: Substantial progress has been made in identification of type 2 diabetes (T2D) risk loci in the past few years, but our understanding of the genetic basis of T2D in ethnically diverse populations remains limited. We performed a genome-wide association study and a replication study in Chinese Hans comprising 8,569 T2D case subjects and 8,923 control subjects in total, from which 10 single nucleotide polymorphisms were selected for further follow-up in a de novo replication sample of 3,410 T2D case and 3,412 control subjects and an in silico replication sample of 6,952 T2D case and 11,865 control subjects. Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DUSP9) at genome-wide significance, we identified two novel T2D loci, including G-protein-coupled receptor kinase 5 (GRK5) (rs10886471: P = 7.1 × 10(-9)) and RASGRP1 (rs7403531: P = 3.9 × 10(-9)), of which the association signal at GRK5 seems to be specific to East Asians. In nondiabetic individuals, the T2D risk-increasing allele of RASGRP1-rs7403531 was also associated with higher HbA(1c) and lower homeostasis model assessment of β-cell function (P = 0.03 and 0.0209, respectively), whereas the T2D risk-increasing allele of GRK5-rs10886471 was also associated with higher fasting insulin (P = 0.0169) but not with fasting glucose. Our findings not only provide new insights into the pathophysiology of T2D, but may also shed light on the ethnic differences in T2D susceptibility.
Diabetes 09/2012; · 8.29 Impact Factor
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Juan Hui,
Jian-Ye Wang,
Xiao-Hong Shi,
Yao-Guang Zhang,
Ming Liu,
Xin Wang,
Na-Na Wang,
Xin Chen,
Si-Ying Liang,
Dong Wei,
Fan Zhao,
Yu-Hong Zhang, Ze Yang
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ABSTRACT: To investigate the association of prostate cancer (PCa) with PDLIM5 (rs17021918, T), SLC22A3 (rs9364554, C) and NKX3-1 (rs1512268, A) in Chinese men.
We included 124 PCa patients and 138 normal controls in this study, compared the alleles and genotypes of PDLIM5 (rs17021918, T) , SLC22A3 (rs9364554, C) and NKX3-1 (rs1512268, A) of the two groups, and explored the association of each of the genes with the age, body mass index (BMI), Gleason score, PSA level and tumor stage of the patients. We analyzed the gene-gene interaction using the multifactor dimensionality reduction method (MDR).
There were no statistically significant differences in the frequency distribution of the risk alleles and genotypes of PDLIM5, SLC22A3 and NKX3-1 between the case and control groups (P > 0.05), nor were the three gene loci significantly associated with the age, Gleason score, PSA level and pathological grade of the PCa patients (CP < 0.05). MDR analysis showed no interaction between PDLIM5 and NKX3-1, but tree-diagram analysis revealed a possible synergistic action of the two polymorphism loci.
PCa might not be associated with PDLIM5 (rs17021918,T), SLC22A3 (rs9364554,C) and NKX3-1 (rs1512268,A) in Chinese men. However, PDLIM5 and NKX3-1 might have a synergistic action on the risk PCa.
Zhonghua nan ke xue = National journal of andrology 05/2012; 18(5):404-11.
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ABSTRACT: This study investigated the association between small ubiquitin-like modifier 4 (SUMO4) gene polymorphisms and type 2 diabetes mellitus (T2DM) in Chinese Han of Beijing area. Using the case-control method, we included 404 T2DM patients in T2DM group and 500 age- and gender- matched healthy subjects in control group. We detected the distribution of alleles and genotypes of the three single nucleotide polymorphisms (SNPs, rs237025, rs237024 and rs600739) with the polymerase chain reaction-high resolution melting curve (PCR-HRM) combined with gene sequencing, analysed the differences of glycosylated hemoglobin A1c (HbA1c) among different genotypes carriers in T2DM group, and conducted a haplotype analysis. In this study, the results showed that the frequency of the G allele of rs237025 was significantly higher in T2DM group than that of control group (0.334 vs. 0.282, P = 0.017). Compared with control group, the GA genotype carriers of T2DM patients had 1.563 times more susceptibility to T2DM [P =0.001; odds ratio (OR), 1.563; 95% confidence interval (CI), 1.189-2.053]. Meanwhile, the G allele carriers (GG+GA) of T2DM patients had 1.525 times more susceptibility to T2DM in the dominant model (GG+GA vs. AA, P = 0.002; OR,1.525; 95% CI,1.169-1.989). However, as for rs237024 and rs600739, no significant differences were found in the distribution of the genotypes and alleles between two groups (P >0.05).Although our study didn't observe any statistically significant results, we found that T2DM patients with GG and GA genotypes of rs237025, TT genotype of rs237024 and GG genotype of rs600739 had a higher level of HbA1c than counterparts in control group. In addition, the AAC, AGC and GGT haplotypes might contribute to susceptibility to T2DM (OR>1) , while the AAT and GAC haplotypes might be considered as protective factors against T2DM (OR<1). The results suggested that rs237025 polymorphisms was associated with susceptibility to T2DM, but rs237024 and rs600739 were not.
Hereditas (Beijing) 03/2012; 34(3):315-25.
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Yixuan Wang,
Chen-Guang Zheng,
Yonghua Jiang,
Jiqin Zhang,
Jiayu Chen,
Chao Yao,
Qingguo Zhao,
Sheng Liu,
Ke Chen,
Juan Du, Ze Yang,
Shaorong Gao
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ABSTRACT: The generation of induced pluripotent stem cells (iPSCs) from differentiated somatic cells by over-expression of several transcription factors has the potential to cure many genetic and degenerative diseases currently recalcitrant to traditional clinical approaches. One such genetic disease is β-thalassemia major (Cooley's anemia). This disease is caused by either a point mutation or the deletion of several nucleotides in the β-globin gene, and it threatens the lives of millions of people in China. In the present study, we successfully generated iPSCs from fibroblasts collected from a 2-year-old patient who was diagnosed with a homozygous 41/42 deletion in his β-globin gene. More importantly, we successfully corrected this genetic mutation in the β-thalassemia iPSCs by homologous recombination. Furthermore, transplantation of the genetically corrected iPSCs-derived hematopoietic progenitors into sub-lethally irradiated immune deficient SCID mice showed improved hemoglobin production compared with the uncorrected iPSCs. Moreover, the generation of human β-globin could be detected in the mice transplanted with corrected iPSCs-derived hematopietic progenitors. Our study provides strong evidence that iPSCs generated from a patient with a genetic disease can be corrected by homologous recombination and that the corrected iPSCs have potential clinical uses.
Cell Research 02/2012; 22(4):637-48. · 8.19 Impact Factor
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ABSTRACT: The aim of this study was to investigate the association between haptoglobin (Hp) gene polymorphism and occurrence of type 2 diabetes mellitus (T2DM) in a northern Chinese population. We studied the association of the Hp gene polymorphism with T2DM in 584 unrelated T2DM patients and 690 control subjects with normal glucose tolerance among northern Chinese. The patients were diagnosed in accordance with the guidelines of the American Diabetes Association. The clinical characteristics of the study population were recorded, and the Hp genotype was determined. The frequencies of the genotypes in the group of T2DM patients and the controls were as follows: Hp2-2, 51.7% and 44.1%; Hp2-1, 39.7% and 45.1%; and Hp1-1, 8.6% and 10.9%, respectively. There was significant difference for the genotypic and allelic distribution between the two groups (p=0.021 and p=0.007, respectively). Even after readjusting for the confounding effects of age, gender, and body mass index, a significant effect of genotypes on T2DM was still found in the recessive model for the Hp2 allele tested (p=0.002). Those who had the Hp2-2 genotype had a significantly higher risk for T2DM than those with other genotypes (odds ratio=1.441, 95% confidence interval=1.143-1.817). The results showed that the Hp2-2 genotype is associated with increased risk of T2DM in the northern Chinese Han population.
Genetic Testing and Molecular Biomarkers 02/2012; 16(6):563-8. · 1.11 Impact Factor
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Yu-Rong Zhang,
Yong Xu,
Kuo Yang,
Ming Liu,
Dong Wei,
Yao-Guang Zhang,
Xiao-Hong Shi,
Jian-Ye Wang,
Fan Yang,
Xin Wang, [......],
Fei Wang,
Xin Chen,
Liang Sun,
Xiao-Quan Zhu,
Ling Zhu,
Yi-Ge Yang,
Lei Tang,
Hai-Yan Jiao,
Zheng-Hao Huo, Ze Yang
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ABSTRACT: Background/Aim: Six prostate cancer (PCa) susceptibility loci were identified in a genome-wide association study (GWAS) in populations of European decent. However, the associations of these 6 single-nucleotide polymorphisms (SNPs) with PCa has remained tobe clarified in men in Northern China. This study aimed to explore the loci associated with PCa risk in a Northern Chinese population. Methods: Blood samples and clinical information of 289 PCa patients and 288 controls from Beijing and Tianjin were collected. All risk SNPs were genotyped using polymerase chain reaction (PCR)-high resolution melting curve technology and gene sequencing. Associations between PCa and clinical covariates (age at diagnosis, prostate-specific antigen [PSA], Gleason score, tumor stage, and level of aggressiveness) and frequencies of alleles and genotypes of these SNPs were analyzed using genetic statistics. Results: Among the candidate SNPs, 11p15 (rs7127900, A) was associated with PCa risk (P = 0.02, odds ratio [OR] = 1.64, 95% confidence interval [CI] = 1.09-2.46). Genotypes showed differences between cases and controls on 11p15 (rs7127900, A), 11q13 (rs7931342, T), and HNF1B (rs4430796, A) (P = 0.03, P = 0.01, and P = 0.04, respectively). The genotype TG on 11q13 (rs7931342, T) was positively associated with an increased Gleason score (P = 0.04, OR = 2.15, 95% CI = 1.02-4.55). Patients carrying TG on 17q24 (rs1859962, G) were negatively associated with an increased body mass index (BMI) (P = 0.03, OR = 0.44, 95% CI = 0.21-0.92) while those with AG on HNF1B (rs4430796, A) were more likely to have PSA increase (P = 0.002). Conclusion: Our study suggests that 11p15 (rs7127900, A) could be a susceptibility locus associated with PCa in Northern Chinese. Genotype TG on 11q13 (rs7931342, T) could be related to an increased Gleason score, AG on HNF1B (rs4430796, A) could be associated with PSA increase, and TG on 17q24 (rs1859962, G) could be negatively associated with an increased BMI in Chinese men with PCa.
Asian Pacific journal of cancer prevention: APJCP 01/2012; 13(12):6273-6. · 0.66 Impact Factor
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ABSTRACT: To set up a new method, which is sensitive, low cost, rapid and suitable for clinical application for FTO gene rs9930506 variant genotyping basing on high resolution melting (HRM) platform, and to preliminarily put into practice in susceptibility analysis for metabolic syndrome (MS) in Beijing.
Unlabelled probe with C3-spacer block specific for rs9930506 variant has been designed according to the Refseq from GenBank. With LC-Green plus dye pre-mixed, we scanned the signal for the genotype analysis after PCR amplification and HRM reaction. Restriction fragment length polymorphism (RFLP) and PCR-sequencing methods were designed as 2 control genotyping methods for the evaluation of accuracy and convenience. Afterwards, the HRM-based method was put into practice in metabolic syndrome patients (n = 500) and control groups (n = 500) for rs9930506 genotyping, and primarily study the association between rs9930506 and MS.
All the 3 methods could genotype rs9930506 appropriately, although the 2 control methods seemed to be a little time-inefficient. The call rate of HRM-method was 100% and sampling accuracy reached 99.3% according to sequencing results. In the MS group, AA, AG and GG genotypes were found in 290, 185 and 25 cases, respectively. And in the control group, those were found in 344, 138 and 18 cases. No genotype distribution difference was detected between control group and HapMap-CHB data (P = 0.520). The genotype distributions were all in Hardy-Weinberg equilibrium in each group. AA genotype of rs9930506 seemed to reduce the risk for MS (OR = 0.626, 95%CI = 0.483 - 0.812).
The AA genotype of rs9930506 variant in FTO might be a protective factor for MS in Beijing population. The susceptibility related genotyping in clinical samples could be more rapid, precise and inexpensive with the development of HRM in genotyping.
Zhonghua nei ke za zhi [Chinese journal of internal medicine] 01/2012; 51(1):8-12.
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ABSTRACT: Genome-wide association studies have identified several genetic variants at 8q24 that are strongly associated with prostate cancer risk in populations of European, American and Japanese ancestry. We investigated the contribution of these prostate cancer risk variants in the Chinese population.
We evaluated the association of 14 single nucleotide polymorphisms at 8q24 with prostate cancer risk using high resolution melting curve combined gene sequencing methods in case-control groups, including 265 cases and 288 controls. We explored the association between clinical covariates (age at diagnosis, prostate specific antigen, Gleason score and tumor stage) and risk loci in our study to infer their impact on aggressive prostate cancer.
Four of the 14 single nucleotide polymorphisms were associated with prostate cancer risk, including rs16901966 (OR 1.343, 95% CI 1.029-1.754, p = 0.030), rs1447295 (OR 1.499, 95% CI 1.109-2.027, p = 0.008), rs11986220 (OR 1.589, 95% CI 1.160-2.178, p = 0.004) and rs10090154 (OR 1.571, 95% CI 1.146-2.154, p = 0.005). Haplotype based association analysis of the risk alleles revealed significant differences between cases and controls. The risk alleles of rs16901966, rs1447295, rs11986220 and rs10090154 were associated with age at diagnosis and tumor stage compared with controls while rs16901966 was associated with aggressive prostate cancer (OR 1.538, 95% CI 1.076-2.099, p = 0.018).
For northern Chinese men rs16901966, rs1447295, rs11986220 and rs10090154 at 8q24 (region 1, region 2) are associated with prostate cancer and prostate cancer related clinical covariates.
The Journal of urology 11/2011; 187(1):315-21. · 4.02 Impact Factor
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ABSTRACT: Dietary restriction effectively extends lifespan in mammals and decreases the incidence and progression of many age-dependent diseases. To understand the genetic mechanisms that longevity responses to dietary restriction would have far-reaching impacts on future medical treatments to deal with the ageing problems. Until recently, we knew nothing about these mechanisms in metazoans. Recent advances of the genetic bases of energy sensing and life control in yeast, invertebrates, and mammals have begun to settle the problem. More evidence indicates that the brain has a principal role in sensing dietary restriction and extending lifespan in metazoans. This paper reviews recently development of mechanisms, regulatory factors, genes, nervous control, and related hypothesizes of DR-longevity mechanisms in metazoans.
Hereditas (Beijing) 11/2011; 33(11):1153-8.
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Chang-Hu Zhou,
Jian-Ye Wang,
Su-Yan Cao,
Xiao-Hong Shi,
Yao-Guang Zhang,
Ming Liu,
Xin Wang,
Jin Huang,
Yi-Ge Yang,
Dong Wei, Ze Yang
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ABSTRACT: In European populations, 7 single nucleotide polymorphisms (SNPs) on chromosome 17q, 3 SNPs on 17q12, and 4 SNPs on 17q24.3 were recently identified to be closely related to the risk of prostate cancer by a genome-wide association study. In Japanese populations, the correlation between 2 SNPs on 17q and the risk of prostate cancer and tumor aggressiveness was also confirmed by a large-scale experiment. However, whether 17q is associated with prostate cancer and its clinical manifestations in Chinese populations is still unknown. Therefore, we conducted a case-control study in a northern Chinese population and tested 2 SNPs, rs4430796 and rs1859962, on 17q in 124 prostate cancer patients and 111 controls using polymerase chain reaction-high resolution melting curve (PCR-HRM) combined with sequencing. We analyzed the association of the 2 SNPs with the risk of prostate cancer as well as patients' lifestyles, onset ages, Gleason scores, PSA levels, and pathologic stages. We found a significant difference in the G allele of SNP rs1859962 (P = 0.035, OR = 1.51, 95% CI = 1.03-2.21) but not in the rs4430796 genotype frequency or allele frequency distribution between prostate cancer patients and the controls (P > 0.05). Neither of the SNPs was significantly associated with the onset age, Gleason score, PSA level, pathologic stage, or other clinical indicators of patients with prostate cancer (P > 0.05). Our results show that polymorphism of the G allele of SNP rs1859962 is associated with the risk of prostate cancer in a Chinese population.
Chinese journal of cancer 10/2011; 30(10):721-30.
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Jie Feng,
Jianyi Zhang,
Ming Liu,
Gang Wan,
Keyan Qi,
Chenguang Zheng,
Zeping Lv,
Caiyou Hu,
Yi Zeng,
Simon G Gregory, Ze Yang
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ABSTRACT: Human longevity is a complex heritable genetic trait. Based on substantial evidence from model organisms, it is clear that mitochondria play a pivotal role in aging and lifespan. However, the effects that mitochondrial genome variations have upon longevity and longevity-related phenotypes in Chuang people in China have yet to be established. By genotyping 15 variants for 10 haplogroups in 738 Chuang subjects, including 367 long-lived individuals and 371 controls, we found that haplogroup F was significantly associated with longevity in females of Zhuang population of China (p=0.003, OR: 2.01, 95%CI: 1.263-3.197). Additionally, haplogroup F was related to higher HDL levels (p<0.05) in long-lived individuals. Further analysis suggests that the non-synonymous variant m.13928G>C in haplogroup F was also associated with longevity in female Zhuang Chinese which might account for the beneficial effect of F.
Experimental gerontology 09/2011; 46(12):987-93. · 3.34 Impact Factor
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Jie Xu,
Wen Bin Wei,
Ming Xia Yuan,
Shen Yuan Yuan,
Gang Wan,
Yuan Yuan Zheng,
Yi Bin Li,
Shuang Wang,
Liang Xu,
Han Jing Fu, [......],
Xue Li Cui,
Wei Bai,
Yu Jie Chen,
Zi Min Wang,
Qing Sheng Zhu,
Ying Gao,
De Yuan Liu,
Yun Tao Ji, Ze Yang,
Jost B Jonas
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ABSTRACT: To examine prevalence and associated factors of diabetic retinopathy in patients with Type 2 diabetes mellitus in urban communities of Beijing.
The community health care center-based study included subjects with diabetes mellitus and an age of 20 years to 80 years, who were recruited from 15 community health centers in urban Beijing. Diabetes mellitus was defined using the World Health Organization criteria. Fundus photographs were graded using the modified Airlie House classification system.
Of 2,642 eligible patients, 2,007 (76.0%) subjects (1,199 women) with a mean age of 64.1 ± 9.0 years participated. The overall prevalence of diabetic retinopathy was 24.7 ± 1.0% (95% confidence interval [CI], 22.8-26.6). In binary logistic analysis, presence of diabetic retinopathy was associated with younger age (odds ratio [OR], 0.97; 95% CI, 0.95-0.98), longer duration of diabetes (OR, 1.10; 95% CI, 1.08-1.12), higher concentration of glycosylated hemoglobin HbA1c (OR, 1.23; 95% CI, 1.14-1.33), higher systolic blood pressure (OR, 1.01; 95% CI, 1.01-1.02), lower body mass index (OR, 0.95; 95% CI, 0.92-0.98), and elevated blood urea concentration (OR, 1.01; 95% CI, 1.00-1.01). Microalbuminuria was an additional associated factor (OR, 1.55; 95% CI, 1.16-2.08). Patients with microalbuminuria were 4.7 times more likely to have a severe or proliferating diabetic retinopathy than those without microalbuminuria.
In the urban population of Beijing, prevalence of diabetic retinopathy in diabetic patients was 25%. As in whites, increased blood pressure besides elevated plasma glucose concentrations was highly significantly associated with diabetic retinopathy in Chinese. It suggests that in Chinese as also in whites, blood pressure control beside control of plasma glucose levels is important to prevent development or progression of diabetic retinopathy.
Retina (Philadelphia, Pa.) 08/2011; 32(2):322-9. · 2.93 Impact Factor
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Journal of Genetics 08/2011; 90(2):343-7. · 1.09 Impact Factor
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Lin Zhou,
Ming Liu,
Jin Huang,
Yi-Ge Yang,
Dong Wei,
Xiao-Hong Shi,
Yao-Guang Zhang,
Xin Wang,
Chang-Hu Zhou,
Xin Chen, Ze Yang,
Jian-Ye Wang
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ABSTRACT: To investigate the correlation of the common variant single nucleotide polymorphisms (SNP) on chromosome 3 with the incidence and related risk factors of prostate cancer (PCa) in Chinese men.
Using the case-control meth- od, we included 124 PCa patients in the PCa group and 111 age- and gender-matched cancer-free healthy subjects as normal controls. We detected the distribution of allele and genotype frequencies of the SNP rs10934853 and rs2660753 with the polymerase chain reaction-high resolution melting curve (PCR-HRM) combined with gene sequencing, analyzed the cumulative effect of the risk genotypes of these two independent variants, and determined the correlation between different genotypes of these two SNPs and clinically related risk factors in the PCa patients.
As for the genotypes of rs10934853, there were 28 cases of AA (22.8%), 46 cases of CC (37.4%), and 49 cases of AC (39.8%) in the PCa patients, as compared with 24 (22.0%), 34 (31.2%) and 51 (46.8%) in the healthy controls. As regards the genotypes of rs2660753, there were 13 cases of AA (11.0%), 59 cases of GG (50.0%) and 46 cases of AG (39.0%) in the PCa patients, in comparison with 9 (8.8%), 47 (45.6%) and 47 (45.6%) in the controls. No significant differences were found in the distribution of the genotype and allele frequencies of rs10934853 and rs2660753 between the two groups (P = 0.520 & 0.582). Analysis on the cumulative effect of the risk genotypes of rs10934853 and rs2660753 showed a slightly higher risk of PCa (OR = 1.831 & 1.968) in the two groups with risk genotypes than in the one with wild types (P > 0.05). Different genotypes of rs10934853 and rs2660753 were not correlated with clinically related risk factors of the PCa patients (P > 0.05).
SNP rs10934853 and rs2660753 on chromosome 3 are not obviously correlated with PCa in Chinese patients, and may not be a genetic risk factor of PCa.
Zhonghua nan ke xue = National journal of andrology 08/2011; 17(8):682-7.
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ABSTRACT: The receptor for advanced glycation end products (RAGE) and its proinflammatory ligand, S100-calgranulins, are critically implicated in the pathological progression of multiple sclerosis (MS). A functional polymorphism within the V-type immunoglobulin domain of RAGE gene, p.82G>S (c.557G>A), has been shown to affect ligand binding affinity and thus may affect susceptibility to MS.
The RAGE p.82G>S polymorphism was genotyped in 144 MS patients and 156 healthy controls using polymerase chain reaction - restriction fragment length polymorphism. A replication study was performed on a second cohort comprising 138 patients and 150 controls. The relationship between the RAGE p.82G>S polymorphism and circulating levels of soluble RAGE (sRAGE), a secreted decoy receptor against RAGE signaling, was also investigated.
In both initial and replication cohorts, an increased MS risk was detected in RAGE p.82G>S variant allele carriers (odds ratio [OR] = 1.786, p = 0.0134 and OR = 1.732, p = 0.0210, respectively). This association signal persisted in subgroups of women and patients with relapsing-remitting MS. Moreover, compared with the wild-type 82GG carriers, carriers of the variant allele presented a faster progression of disability and a reduced serum sRAGE level.
The present study provides preliminary evidence that the gain-of-function p.82G>S polymorphism in the RAGE gene is associated with an increased risk of MS in the Chinese population.
Multiple Sclerosis 04/2011; 17(8):914-21. · 4.26 Impact Factor
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ABSTRACT: Lymphotoxin-alpha (LTA) gene has been reported to have a genetic association with systemic lupus erythematosus (SLE), psoriasis, and rheumatoid arthritis. However, the association of LTA with ankylosing spondylitis (AS) has not reported. By case-control study, we carried out the high density limited genome scanning to the HLA class III region about 58 kb in Ningxia population (case 300 and control 385). In this study, 33 SNPs in LTA were genotyped in Ningxia population. We analyzed these SNPs and the haplotypes covering LTA. Only the distribution of TCC haplotype which contains mutation allele of LTA rs909253 was statistically significant(P=0.0005). The C allele frequency of the LTA rs909253 T/C polymorphism was higher in AS cases than that in the controls (28.5% versus 19.7%, P=2×10-4) in Ningxia population. The results suggest that there is a relevance between LTA and the susceptibility of AS, and we identified that the LTA polymorphism may be associated with AS in Ningxia population.
Hereditas (Beijing) 04/2011; 33(4):329-36.
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ABSTRACT: The K121Q polymorphism of the ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) gene has been studied in relation to insulin resistance, type 2 diabetes, and obesity, and conflicting results were observed in various populations. The purpose of the present study was to investigate the prevalence of K121Q polymorphism of ENPP1 gene and to clarify whether this polymorphism is associated with type 2 diabetes susceptibility in northern Chinese population. We studied the association of the ENPP1 K121Q polymorphism with type 2 diabetes (T2D) in 639 unrelated patients and 885 control subjects with normal glucose tolerance of northern China. The patients were diagnosed in accordance with the guidelines of the American Diabetes Association (ADA). Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The distribution of KK, KQ, and QQ genotypes among patients was 79.5, 19.2, and 1.3%, similar to that of the control group (79.2, 20.1, and 0.7%). After readjusting for the confounding effects of age, gender, and BMI, no significant effect of genotypes on T2D was found for any of the genetic models tested (recessive model, dominant model, or additive model). All clinical characteristics tested were similar among the different genotypes, and no significant associations were observed both in T2D patients and in controls. When subgroup analyses of T2D patients and non-diabetic controls were stratified according to BMI and waist circumference, the variant was still not associated with T2D. The results showed that the ENPP1 K121Q polymorphism is not associated with genetic susceptibility of type 2 diabetes in the northern Chinese population.
Acta Diabetologica 03/2011; 48(4):303-10. · 2.78 Impact Factor
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ABSTRACT: We studied 6,023 individuals diagnosed with anemia on the basis of hematological examinations. The study showed that the frequency of α-thalassemia (α-thal) carriers was 26.9% and β-thal carriers comprised 19.9% of the population of Guangxi Zhuang Autonomous Region, People's Republic of China (PCR). The diagnosed α-thal anomalies were related to six gene mutations and 16 genotypes, whereas the β-thal were related to 10 gene mutations and 65 genotypes. The four most common mutations [codons 41/42 (-TTCT), codon 17 (A>T), -28 (A>G) and IVS-II-654 (C>T)] accounted for 86.38% of the β-globin gene mutations. Risk analysis of mutation alleles in thalassemia cases identified four mutations (-α(3.7), -α(4.2), αα(Westmead) and αα(CS)) that were associated with α-thal intermedia, with an odds ratio (OR) of 62.41-32.68. Four high-risk mutations, namely, codon 26 (G>A), -28, codons 41/42 and codon 17, were associated with β-thal major (β-TM), with an OR of 3.93-2.20. The present study provides important genetic information on thalassemia in this population.
Hemoglobin 01/2011; 35(1):28-39. · 1.30 Impact Factor
