27 results on '"Ji-rong Long"'
Search Results
2. Data from Association of Matrix Metalloproteinase-8 Gene Variation with Breast Cancer Prognosis
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Shu Ye, Wei Zheng, Robert Paridaens, Andresa C. Pereira, Yu-Tang Gao, Eve G. Pearce, Wouter Hendrickx, Conrad Hodgkinson, Xiao-Ou Shu, Ross C. Laxton, Ji-Rong Long, and Julie Decock
- Abstract
Animal and cell studies indicate an inhibitory effect of matrix metalloproteinase-8 (MMP8) on tumorigenesis and metastasis. We investigated whether MMP8 gene variation was associated with breast cancer metastasis and prognosis in humans. We first studied nine tagging single nucleotide polymorphisms (SNP) in the MMP8 gene in 140 clinically and pathologically well-characterized breast cancer patients. Four of the SNPs were found to be associated with lymph node metastasis, the most pronounced being a promoter SNP (rs11225395) with its minor allele (T) associating with reduced susceptibility to lymph node metastasis (P = 0.02). This SNP was further evaluated for association with cancer relapse and survival among a cohort of ∼1,100 breast cancer patients who had been followed for cancer recurrence and mortality for a median of 7.1 years. The T allele was associated with reduced cancer relapse and greater survival, particularly among patients with earlier stage cancer. Among patients of tumor-node-metastasis stage 0 to II, the adjusted hazard ratio of disease-free survival was 0.7 [95% confidence interval (95% CI), 0.5–0.9] for patients carrying T allele compared with those homozygous for the C allele (P = 0.02). In vitro experiments showed that the T allele had higher promoter activity than the C allele in breast cancer cells. Electrophoretic mobility shift assays showed binding of nuclear proteins to the DNA sequence at the SNP site of the T allele but not that of the C allele. The data suggest that MMP8 gene variation may influence breast cancer prognosis and support the notion that MMP8 has an inhibitory effect on cancer metastasis. [Cancer Res 2007;67(21):10214–21]
- Published
- 2023
3. Allelic expression imbalance polymorphisms in susceptibility chromosome regions and the risk and survival of breast cancer
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Wei, Lin, Hong-Da, Lin, Xing-Yi, Guo, Ying, Lin, Feng-Xi, Su, Wei-Hua, Jia, Lu-Ying, Tang, Wei, Zheng, Ji-Rong, Long, and Ze-Fang, Ren
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Adult ,China ,Genotype ,Case-Control Studies ,Humans ,Breast Neoplasms ,Female ,Genetic Predisposition to Disease ,Middle Aged ,Prognosis ,Polymorphism, Single Nucleotide ,Alleles ,Genome-Wide Association Study - Abstract
Allelic expression imbalance (AEI) has been applied to indicate potential function of genetic variants. Combining earlier results from global differential allele-specific expression analysis and genome wide association studies (GWASs), we select the single nuclear polymorphisms (SNPs) exhibiting AEI phenomenon located in breast cancer susceptibility chromosome regions, and evaluate their associations with breast cancer risk and survival. We examined the genotypes of 10 AEI SNPs in 1551 incident breast cancer cases and 1605 age-frequency matched controls from Guangzhou, China. In total, 1168 cases were followed up. MUC16 rs2591592 (AT/AA vs. TT) was associated with an increased risk of premenopausal breast cancer (OR [95%CI]: 1.30 [1.07, 1.57]); SLAMF1 rs1061217 (CT/TT vs. CC) decreased the risk of breast cancer among overweight women (OR [95%CI]: 0.74 [0.57, 0.96]) but increased the risk among normal-weight women (OR [95%CI]: 1.15 [1.01, 1.39]); ZNF331 rs8109631 (AG/AA vs. GG) and CHRAC1 rs10216653 (GC/GG vs. CC) were associated with progression free survival among breast cancer patients with negative ER/PR status and higher clinical stage (HRs [95%CIs]: 2.39 [1.14, 5.00], 1.85 [1.03, 3.32], and 0.49 [0.30, 0.80], respectively). ZNF331 rs8109631 and CHRAC1 rs10216653 were further found to represent several functional SNPs through bioinformatic analysis. In conclusion, our findings demonstrated suggestive associations of AEI polymorphisms with breast cancer risk (MUC16 rs2591592 and SLAMF1 rs1061217) and prognosis (ZNF331 rs8109631 and CHRAC1 rs10216653). © 2016 Wiley Periodicals, Inc.
- Published
- 2015
4. Genes in Estrogen Metabolism Pathway and Breast Cancer
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Ji-Rong Long
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Breast cancer ,business.industry ,Cancer research ,Medicine ,Estrogen receptor ,business ,Estrogen Metabolism ,medicine.disease ,Gene ,Estrogen receptor alpha ,Estrogen receptor beta - Published
- 2007
5. Potential effect of inter-genic action on peak bone mass (PBM) in Chinese females
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Fei-Yan, Deng, Ji-Rong, Long, Shu-Feng, Lei, Miao-Xin, Li, and Hong-Wen, Deng
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Adult ,China ,Lumbar Vertebrae ,Polymorphism, Genetic ,Genotype ,Interleukin-6 ,alpha-2-HS-Glycoprotein ,Osteocalcin ,Estrogen Receptor alpha ,Blood Proteins ,Polymerase Chain Reaction ,Collagen Type I ,Young Adult ,Absorptiometry, Photon ,Asian People ,Gene Frequency ,Bone Density ,Parathyroid Hormone ,Humans ,Receptors, Calcitriol ,Female ,Collagen ,Femur ,Alleles ,Polymorphism, Restriction Fragment Length - Abstract
Peak bone mass (PBM) is a complex trait, determined by both genetic and environmental factors and also their interactions. Vitamin D receptor (VDR) estrogen receptor alpha (ERalpha), interleukin 6 (IL6), parathyroid hormone (PTH), collagen type I alpha 2 (COL1A2), bone Gla protein (BGP), alpha2-HS glycoprotein (AHSG) are among the important candidate genes of bone metabolism. The study aims to detect significant effect of potential inter-genic action underlying PBM in Chinese females. 361 unrelated healthy premenopausal Chinese females (aged 20 -44 years) with Han ethnicity were recruited from the Shanghai city in China. Bone mineral density (BMD) at the hip and the lumbar spine (L1-4) was measured using a Hologic QDR 2000 + dual-energy X-ray absorptiometry (DXA) scanner. Eight polymorphisms among the seven genes were genotyped, i. e. Apa I in VDR, Pvu II and Xba I in ERa (ERX and ERP, respectively), BsrB I in IL6, BstB I in PTH, Msp I in COL1A2, Hind III in BGP, and Sac I in AHSG, using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) methods. Two-way analysis of variance (ANOVA) showed significant effects of IL6 x ERP interaction on PBM at the total hip (P = 0.019), intertrochanter (P = 0.016), and femoral neck (P =0. 019). The BMD difference between GGPp carriers and GGpp subjects (at these two loci) amounted to 18.0%, 19.5%, and 14.8% at the hip,intertrochanter,and femoral neck,respectively. The potential interaction effect of AHSG x IL6 was observed on femoral neck PBM (P = 0.046). GGSS individuals (at these two loci) had, on average, 18.8% higher femoral neck BMD than those subjects with GGSs genotype. The population-level statistical analysis indicates that IL6 x ERP and AHSG x IL6 have significant inter-genic effect on the genetic determination of PBM in Chinese females.
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- 2005
6. Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bone mass
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Volodymyr, Dvornyk, Peng-yuan, Liu, Ji-rong, Long, Yuan-yuan, Zhang, Shu-feng, Lei, Robert R, Recker, and Hong-wen, Deng
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Adult ,Male ,Genotype ,alpha-2-HS-Glycoprotein ,Estrogen Receptor alpha ,Blood Proteins ,Middle Aged ,White People ,Asian People ,Bone Density ,Parathyroid Hormone ,Humans ,Osteoporosis ,Receptors, Calcitriol ,Female ,Receptors, Calcium-Sensing ,Aged - Abstract
Ethnicity is shown to be one of important factors affecting bone mineral density (BMD). The present study was performed to compare the association of six markers for five candidate genes with BMD variation in two populations of different ethnicity, Caucasian and Chinese, and the contribution of genotype and ethnicity to this variation in the populations.The studied restriction fragment length polymorphisms were BsaH I of the calcium-sensing receptor gene, SacI of the alpha2HS-glycoprotein (AHSG) gene, PvuII and XbaI of the oestrogen receptor alpha gene, ApaI of the vitamin D receptor (VDR) gene and BstBI of the parathyroid hormone gene. The association of these markers with BMD was analysed by one-way and two-way ANOVA with adjustment for covariates.Two polymorphisms, AHSG-SacI and VDR-ApaI, showed no association with BMD, while the others were associated with BMD variation at some skeletal sites in either males or females. The polymorphisms indicated clear distinctions between the associations depending on ethnicity, gender and skeletal site. Similar patterns were observed in their contribution to the total population BMD variation. Ethnicity appears to have a larger effect on the total population BMD variation in females than in males. It may account, on the average, for about 2% total population BMD variation at the spine of females and about 1% at the hip of males and females.The results of the present study suggest that significant interethnic differentiation at some loci may contribute to the significant interethnic difference in BMD. However, this contribution apparently is not large.
- Published
- 2005
7. Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes
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Ji-Rong, Long, Lan-Juan, Zhao, Peng-Yuan, Liu, Yan, Lu, Volodymyr, Dvornyk, Hui, Shen, Yong-Jun, Liu, Yuan-Yuan, Zhang, Dong-Hai, Xiong, Peng, Xiao, and Hong-Wen, Deng
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Male ,haplotype ,Genotype ,lcsh:QH426-470 ,Statistics as Topic ,Receptors, Cell Surface ,Polymorphism, Single Nucleotide ,Collagen Type I ,Ion Channels ,Linkage Disequilibrium ,Mitochondrial Proteins ,Transforming Growth Factor beta1 ,Apolipoproteins E ,Gene Frequency ,single nucleotide polymorphism (SNP) ,Transforming Growth Factor beta ,Humans ,Uncoupling Protein 3 ,Genetic Predisposition to Disease ,Obesity ,Receptor, Parathyroid Hormone, Type 1 ,Family Health ,linkage disequilibrium (LD) ,Estrogen Receptor alpha ,Collagen Type I, alpha 1 Chain ,lcsh:Genetics ,Haplotypes ,Receptors, Estrogen ,Osteoporosis ,Receptors, Calcitriol ,Receptors, Leptin ,Female ,Carrier Proteins ,Research Article - Abstract
Background The adequacy of association studies for complex diseases depends critically on the existence of linkage disequilibrium (LD) between functional alleles and surrounding SNP markers. Results We examined the patterns of LD and haplotype distribution in eight candidate genes for osteoporosis and/or obesity using 31 SNPs in 1,873 subjects. These eight genes are apolipoprotein E (APOE), type I collagen α1 (COL1A1), estrogen receptor-α (ER-α), leptin receptor (LEPR), parathyroid hormone (PTH)/PTH-related peptide receptor type 1 (PTHR1), transforming growth factor-β1 (TGF-β1), uncoupling protein 3 (UCP3), and vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR). Yin yang haplotypes, two high-frequency haplotypes composed of completely mismatching SNP alleles, were examined. To quantify LD patterns, two common measures of LD, D' and r2, were calculated for the SNPs within the genes. The haplotype distribution varied in the different genes. Yin yang haplotypes were observed only in PTHR1 and UCP3. D' ranged from 0.020 to 1.000 with the average of 0.475, whereas the average r2 was 0.158 (ranging from 0.000 to 0.883). A decay of LD was observed as the intermarker distance increased, however, there was a great difference in LD characteristics of different genes or even in different regions within gene. Conclusion The differences in haplotype distributions and LD patterns among the genes underscore the importance of characterizing genomic regions of interest prior to association studies.
- Published
- 2004
8. Association of the Progesterone Receptor Gene With Endometrial Cancer Risk in a Chinese Population.
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Wang-Hong Xu, Ji-rong Long, Wei Zheng, Zhi-xian Ruan, Qiuyin Cai, Jia-rong Cheng, Yong-Bing Xiang, and Xiao-Ou Shu
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PROGESTERONE receptors , *GENE expression , *MEDICAL research , *CANCER , *DNA , *GENETIC polymorphisms - Abstract
The article presents the study conducted regarding the role of progesterone receptor (PGR) gene in endometrial cancer risk development in China. The study which collected DNA samples and information from Shanghai Endometrial Cancer Study aims to determine the association of PGR with the cancer risk in the Chinese population. The result shows that the gene is associated with the risk due to the polymorphism in the PGR region.
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- 2009
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9. No Association between Matrix Metalloproteinase (MMP)-1, MMP-3, and MMP-7 SNPs and Endometrial Cancer Risk.
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Beeghly-Fadiel, Alicia, Yong-Bing Xiang, Deming, Sandra L., Ji-Rong Long, Wang-Hong Xu, Qiuyin Cai, Wei Zheng, and Xiao Ou Shu
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The article discusses the Shanghai Endometrial Cancer Study of genetic variation in China which aims to investigate the associations with endometrial cancer susceptibility. The study chooses haplotype-tagging single nucleotide polymorphism from Han Chinese data from the HapMap Project and applies the Hardy-Weinberge equilibrium. It discovers that no SNP varies from the Hardy-Weinberge equilibrium and observes no associations between matrix metallproteinase.
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- 2009
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10. Matrix Metalloproteinase-2 Polymorphisms and Breast Cancer Susceptibility.
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Alicia Beeghly-Fadiel, Wei Lu, Ji-Rong Long, Xiao-ou Shu, Ying Zheng, Qiuyin Cai, Yu-Tang Gao, and Wei Zheng
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The article discusses a study which characterizes genetic variation across the matrix metalloproteinase-2 gene and evaluates the associations with breast cancer risk. Of the 6,066 Chinese women, about 39 of them were genotyped under the Shanghai Breast Cancer Study. It discovers that a rare haplotype reduced the risk of breast cancer, while rare allele homozygotes increased the risk of the cancer.
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- 2009
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11. A Two-stage Case-Control Study of EGFR Polymorphisms and Breast Cancer Risk.
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Young-Seoub Hong, Deming, Sandra L., Yu-Tang Gao, Ji-Rong Long, Xiao-Ou Shu, Qiuyin Cai, Wei Lu, and Wei Zheng
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The article provides information on a study concerning the connectivity between the epidermal growth factor receptor (EGFR) gene polymorphism and the risk of breast cancer among cancer patients in China. According to the article, EGFR gene has been overexpressed in various cancer cases. Meanwhile, its overexpression has been studied and assessed in the cases of breast cancer. Furthermore, its role in breast cancer has not yet proven.
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- 2009
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12. Association of Thymidylate Synthase Gene with Endometrial Cancer Risk in a Chinese Population.
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Wang-Hong Xu, Ji-Rong Long, Wei Zheng, Zhi-Xian Ruan, Qiuyin Cai, Jia-Rong Cheng, Gen-Ming Zhao, Yong-Bing Xiang, and Xiao-Ou Shu
- Abstract
The article presents a study which aims to investigate the connection between the risk of acquiring endometrial cancer and thymidylate synthase (TYMS) gene among the citizens in China. Researchers have used population-based case control study of this type of cancer and the participants were interviewed. DNA samples have also collected from the participants to determine the link. Moreover, researchers have determined the relation between TYMS and endometrial cancer in women.
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- 2009
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13. AHSG gene polymorphisms are associated with bone mineral density in Caucasian nuclear families.
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Shu-Feng Lei, Ji-Rong Long, Hui Shen, Lan-Juan Zhao, De-Ke Jiang, Su-Mei Xiao, Xiang-Ding Chen, and Yuan Chen
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GENETIC polymorphisms ,GLYCOPROTEIN hormones ,BIOMARKERS ,CHROMOSOME polymorphism - Abstract
Abstract Purpose  To investigate the role of alpha2âHS glycoprotein (AHSG) gene on bone mineral density (BMD) variation. Methods  A total of 665 subjects from 157 Caucasian nuclear families were genotyped at the AHSG NlaIII, SacI sites. The association and linkage between the single SNP markers and haplotypes constructed by two markers in this gene and BMDs at the spine and hip were determined by using quantitative transmission disequilibrium test (QTDT). Results  Significant within-family associations were obtained for spine BMD at both of studied markers (P = 0.036 and 0.005 at the NlaIII and SacI sites, respectively). Significant (P = 0.008 at the NlaIII locus) (P = 0.004 at the SacI locus) total associations at spine BMD were detected. Haplotype analyses confirmed those within-family and total association. Conclusions  These data suggest the polymorphisms in the AHSG gene may have effects on BMD variation in Caucasian population. [ABSTRACT FROM AUTHOR]
- Published
- 2007
14. Genetic determination and correlation of body weight and body mass index (BMI) and cross-sectional geometric parameters of the femoral neck.
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Hong Xu, Ji-Rong Long, Yan-Jun Yang, Fei-Yan Deng, and Hong-Wen Deng
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BODY mass index , *BODY weight , *HUMAN body composition , *BONE density , *FEMUR neck , *GENE expression - Abstract
This study aimed to examine the genetic determination of body weight, body mass index (BMI) and cross-sectional geometric parameters of the femoral neck including cross-sectional area (CSA), cortical thickness (CT), sectional modulus (Z), and buckling ratio (BR), and to test the genetic correlation between body weight/BMI and the femoral neck geometric parameters. A total of 929 healthy subjects from 292 Chinese nuclear families was included. Femoral neck geometric parameters were estimated from bone mineral density (BMD) and bone area which were measured by dual energy X-ray absorptiometry (DXA). The heritability ( h 2) estimate values were 0.643, 0.626, 0.626, 0.674, 0.405, and 0.615 for body weight, BMI, CSA, CT, Z, and BR, respectively. Body weight was significantly correlated with bone geometric parameters ( p≤0.001) with genetic correlation ( ρ G ) values of 0.551, 0.457, 0.571, and −0.385, and bivariate heritability % MathType!Translator!2!1!AMS LaTeX.tdl!TeX -- AMS-LaTeX! % MathType!MTEF!2!1!+- % feaaeaart1ev0aaatCvAUfeBSjuyZL2yd9gzLbvyNv2CaerbbjxAHX % garmWu51MyVXgatuuDJXwAK1uy0HwmaeHbfv3ySLgzG0uy0Hgip5wz % aebbnrfifHhDYfgasaacH8qrps0lbbf9q8WrFfeuY-Hhbbf9v8qqaq % Fr0xc9pk0xbba9q8WqFfea0-yr0RYxir-Jbba9q8aq0-yq-He9q8qq % Q8frFve9Fve9Ff0dmeaabaqaciGacaGaaeqabaWaaeWaeaaakeaada % qadaqaaiabeg8aYnaaDaaaleaacaWGhbaabaGaaGOmaaaaaOGaayjk % aiaawMcaaaaa!3C98! $${\left( {\rho ^{2}_{G} } \right)}$$ values of 0.304, 0.209, 0.326, and 0.148 for CSA, CT, Z, and BR, respectively. Similar correlations ( p≤0.001) were observed between BMI and bone geometric parameters, with ρ G values of 0.446, 0.432, 0.334, and −0.362, and % MathType!Translator!2!1!AMS LaTeX.tdl!TeX -- AMS-LaTeX! % MathType!MTEF!2!1!+- % feaaeaart1ev0aaatCvAUfeBSjuyZL2yd9gzLbvyNv2CaerbbjxAHX % garmWu51MyVXgatuuDJXwAK1uy0HwmaeHbfv3ySLgzG0uy0Hgip5wz % aebbnrfifHhDYfgasaacH8qrps0lbbf9q8WrFfeuY-Hhbbf9v8qqaq % Fr0xc9pk0xbba9q8WqFfea0-yr0RYxir-Jbba9q8aq0-yq-He9q8qq % Q8frFve9Fve9Ff0dmeaabaqaciGacaGaaeqabaWaaeWaeaaakeaacq % aHbpGCdaqhaaWcbaGaam4raaqaaiaaikdaaaaaaa!3B05! $$\rho ^{2}_{G}$$ values of 0.199, 0.187, 0.112, and 0.131 for CSA, CT, Z, and BR, respectively. In summary, our study suggested that body weight, BMI, and femoral neck geometry were under strong genetic determination. The strong genetic correlations suggested that the genetic factors of bone geometry may be overlapped with those of body weight and BMI. [ABSTRACT FROM AUTHOR]
- Published
- 2006
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15. Genetic linkage of human height is confirmed to 9q22 and Xq24.
- Author
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Yao-Zhong Liu, Peng Xiao, Yan-Fang Guo, Dong-Hai Xiong, Lan-Juan Zhao, Hui Shen, Yong-Jun Liu, Dvornyk, Volodymyr, Ji-Rong Long, Hong-Yi Deng, Jin-Long Li, Recker, Robert R., and Hong-Wen Deng
- Subjects
STATURE ,GENES ,HEREDITY ,HUMAN growth ,LINKAGE (Genetics) ,GENETICS - Abstract
Human height is an important and heritable trait. Our previous two genome-wide linkage studies using 630 (WG1 study) and an extended sample of 1,816 Caucasians (WG2 study) identified 9q22 [maximum LOD score (MLS)=2.74 in the WG2 study] and preliminarily confirmed Xq24 (two-point LOD score=1.91 in the WG1 study, 2.64 in the WG2 study) linked to height. Here, with a much further extended large sample containing 3,726 Caucasians, we performed a new genome-wide linkage scan and confirmed, in high significance, the two regions’ linkage to height. An MLS of 4.34 was detected on 9q22 and a two-point LOD score of 5.63 was attained for Xq24. In an independent sub-sample (i.e., the subjects not involved in the WG1 and WG2 studies), the two regions also achieved significant empirical P values (0.002 and 0.004, respectively) for “region-wise” linkage confirmation. Importantly, the two regions were replicated on a genotyping platform different from the WG1 and WG2 studies (i.e., a different set of markers and different genotyping instruments). Interestingly, 9q22 harbors the ROR2 gene, which is required for growth plate development, and Xq24 was linked to short stature. With the largest sample from a single population of the same ethnicity in the field of linkage studies for complex traits, our current study, together with two previous ones, provided overwhelming evidence substantiating 9q22 and Xq24 for height variation. In particular, our three consecutive whole genome studies are uniquely valuable as they represent the first practical (rather than simulated) example of how significant increase in sample size may improve linkage detection for human complex traits. [ABSTRACT FROM AUTHOR]
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- 2006
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16. Tests of linkage and association of PTH/PTHrP receptor type 1 gene with bone mineral density and height in Caucasians.
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Yuan-Yuan Zhang, Peng-Yuan Liu, Yan Lu, Peng Xiao, Yong-Jun Liu, Ji-Rong Long, Hui Shen, Lan-Juan Zhao, Leo Elze, Robert R. Recker, and Hong-Wen Deng
- Abstract
Parathyroid hormone/parathyroid hormone-related peptide receptor type 1 (PTHR1) plays an important role in calcium metabolism. It was previously shown to influence variation in bone mineral density (BMD). To investigate its importance in a typical U.S. Caucasian population, we tested linkage or association of the PTHR1 gene with BMD and height. Altogether, 1873 subjects from 405 Caucasian nuclear families were studied. BMD was measured at the lumbar spine (L1–L4) and total hip (femoral neck, trochanter, and intertrochanter regions). Four single nucleotide polymorphisms (SNPs) in the PTHR1 gene were genotyped. Sixteen haplotypes were reconstructed. Only two major haplotypes had frequencies >3% and were thus used for the analysis. Analyses were performed for BMD and height in the total sample and for peak BMD (PBMD) achieved in offspring subjects aged 20–50 in a subsample of 387 nuclear families. We found suggestive evidence for total association between haplotype 13 (AATG) and hip PBMD (P = 0.031). For height, evidence of within-family association was suggested for SNP1, SNP2, and haplotype 4 (GGCA) (P ≰ 0.05). Our findings suggest that the PTHR1 gene may be important for PBMD, height variation, or both, although the significance is dampened by correction for multiple testing. [ABSTRACT FROM AUTHOR]
- Published
- 2006
17. Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families.
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Wei-Xia Jian, Yan-Jun Yang, Ji-Rong Long, Yuan-Neng Li, Fei-Yan Deng, De-Ke Jiang, and Hong-Wen Deng
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ESTROGEN receptors ,BODY size ,ESTROGEN ,SEX hormones - Abstract
Estrogen receptor alpha (ER-α) plays an important role in mediating estrogen signaling. Studies in Caucasian populations have shown that it is involved in endocrine-related diseases such as osteoporosis and obesity. In the present study, we first used a quantitative transmission disequilibrium test (QTDT) to examine the relationship between this gene and both the osteoporosis-related phenotype bone mineral density (BMD), and the obesity-related phenotype body mass index (BMI), in 384 Chinese nuclear families. We genotyped a dinucleotide repeat marker (TA)
n , and a long-range haplotype was reconstructed using this marker and two other restriction fragment length polymorphism (RFLP) markers at PvuII and XbaI loci. Although we found significant total association [allele (TA)21 with hip BMD ( P=0.001), and haplotype Px(TA)21 with spine ( P=0.0007) and hip ( P=0.0006) BMD], the more reliable within-family associations were not significant between these phenotype pairs. No linkage signal was obtained for either spine BMD or hip BMD. We found no association or linkage between any of the three studied polymorphisms and the long-range haplotypes of the ER-α gene and BMI. Our study does not support an association of the ER-α gene with BMD and BMI in the Chinese population. [ABSTRACT FROM AUTHOR]- Published
- 2005
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18. Interaction effects between estrogen receptor α and vitamin D receptor genes on age at menarche in Chinese women.
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Hong Xu, Ji-rong Long, Miao-xin Li, and Hong-wen Deng
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ESTROGEN receptors ,GENES ,MENARCHE ,AGE ,WOMEN - Abstract
To evaluate whether estrogen receptor α(ER-α) and vitamin D receptor (VDR) genes are associated with the age at menarche in Chinese women. A total of 390 pre-menopausal Chinese women were genotyped at the ER-α PvuII, X baI, and VDR ApaI loci using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). Neither the ER-αgene nor the VDR gene individually had significant effects on the age at menarche in our subjects ( P > 0.10). However, evidence of interaction effects between the two genes were observed: with the aa genotype at the VDR ApaI locus, subjects with haplotype PX at the ER-αgene had, on average, 6 months later onset of menarche than the non-carriers ( P=0.01). We found that neither the ER-αgene or the VDR gene had a significant association with the age at menarche individually. However, potential interaction effects between the two genes were observed in Chinese women. [ABSTRACT FROM AUTHOR]
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- 2005
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19. Genetic determination of variation and covariation of bone mineral density at the hip and spine in a Chinese population.
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Wei-Xia Jian, Ji-Rong Long, Miao-Xin Li, Xiang-Hua Liu, and Hong-Wen Deng
- Abstract
Abstract Bone mineral density (BMD) is a significant determinant of risk for osteoporosis. Genetic factors are known to account for a major proportion of variation of BMD in Caucasians. However, the degree of genetic determination of BMD in Chinese populations has seldom been investigated. The aim of our study was to investigate the magnitude of the genetic determination of BMD at the spine and hip, and their genetic covariation, in a population of Shanghai city in P. R. China. The subjects consisted of 44 full-sib pairs of females aged 19–43 years, 186 mother-daughter pairs, and 270 nuclear families. For BMD at the spine and hip, the values for narrow-sense heritability h2 (±SE) were 0.72 ± 0.14 and 0.87 ± 0.14, respectively, when estimated by full-sib pairs, and 0.44 ± 0.07 and 0.77 ± 0.07, respectively, when estimated by mother-daughter pairs. There was a significant genetic correlation rg (±SE) of BMD between the spine and hip, of 0.97 ± 0.01 and 0.76 ± 0.04, respectively, when estimated by full-sib pairs and mother-daughter pairs. The common household impact on BMD in our study was negligible according to the statistical estimate. We conclude that genetic factors play a major role in the determination of the variation and covariation of BMD at the spine and hip in our Chinese sample. [ABSTRACT FROM AUTHOR]
- Published
- 2005
20. APOE Haplotypes Influence Bone Mineral Density in Caucasian Males but Not Females.
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Ji-Rong Long, Peng-Yuan Liu, Yong-Jun Liu, Yan Lu, Hui Shen, Lan-Juan Zhao, Dong-Hai Xiong, and Hong-Wen Deng
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APOLIPOPROTEIN E , *OSTEOPOROSIS , *VITAMIN K , *BONE diseases , *APOLIPOPROTEINS , *DISEASE risk factors - Abstract
Low bone mineral density (BMD) is one of the most important risk factors for osteoporosis. Apolipoprotein E (APOE) has been considered as a candidate gene for osteoporosis because of its influence on osteoblast uptake of lipoprotein-borne vitamin K. Using the quantitative transmission disequilibrium test QTDT, we examined linkage and/or association of APOE and BMD at the lumbar spine and the total hip in a sample of 387 Caucasian nuclear families with 715 parents and 953 children. The children were aged 20-50 years and female offspring were premenopausal as well. Four single nucleotide polymorphisms (SNP1-4) in the APOE gene, 4-locus haplotypes and 2-locus haplotypes (e1, e2, e3, e4 isoforms, reconstructed by SNP3 and SNP4) were analyzed. In the whole sample and the female offspring families we found no evidence of linkage or association for either single SNP or haplotype with BMD at the two studied skeletal sites. In the male offspring families, within-family associations were observed at the haplotypesCGTC(P= 0.001),GGTT(P= 0.002), andGATC(P= 0.006) for the lumbar spine BMD, andGATC(P= 0.008) for the total hip BMD. These data suggested that in our studied Caucasian population, APOE may have effects on BMD variation in males but not females. Further studies with a larger sample size are required to confirm such results. [ABSTRACT FROM AUTHOR]
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- 2004
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21. Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees.
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Yao-Zhong Liu, Fu-Hua Xu, Hui Shen, Yong-Jun Liu, Lan-Juan Zhao, Ji-Rong Long, Yuan-Yuan Zhang, Peng Xiao, Dong-Hai Xiong, Dvornyk, Volodymyr, Jin-Long Li, Conway, Theresa, Davies, K. Michael, Recker, Robert R., and Hong-Wen Deng
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STATURE ,HUMAN genetics ,GENETICS ,PHYSICAL anthropology ,HUMAN heredity ,CAUCASIAN race - Abstract
Recently, we reported a whole genome scan on a sample of 630 Caucasian subjects from 53 human pedigrees. Several genomic regions were suggested to be linked to height. In an attempt to confirm the identified genomic regions, as well as to identify new genomic regions linked to height, we conducted a whole genome linkage study on an extended sample of 1,816 subjects from 79 pedigrees, which includes the 53 pedigrees containing the original 630 subjects from our previous whole genome study and an additional 128 new subjects, and 26 further pedigrees containing 1,058 subjects. Several regions achieved suggestive linkage signals, such as 9q22.32[MLS (multipoint LOD score)= 2.74], 9q34.3[MLS= 2.66], Xq24[two-point LOD score= 2.64 at the marker DXS8067], and 7p14.2[MLS= 2.05]. The importance of the above regions is supported either by other whole genome studies or by candidate genes within these regions relevant to linear growth or pathogenesis of short stature. In addition, this study has tentatively confirmed the Xq24 region's linkage to height, as this region was also detected in the previous whole genome study. To date, our study has achieved the largest sample size in the field of genetic linkage studies of human height. Together with the findings of other studies, the current study has further delineated the genetic basis of human stature. [ABSTRACT FROM AUTHOR]
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- 2004
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22. Association between COL1A1 gene polymorphisms and bone size in Caucasians.
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Ji-Rong Long, Thierry, Liu, Peng-Yuan, Yan Lu, Dong-Hai Xiong, Peng-Yuan, Lan-Juan Zhao, Peng-Yuan, Yuan-Yuan Zhang, Leo Elze, Peng-Yuan, Recker, Robert R., and Hong-Wen Deng
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GENETIC polymorphisms , *BONE growth , *BONE diseases , *BONE fractures , *HUMAN genetics , *CAUCASIAN race - Abstract
Bone size is an important determinant of bone strength and a risk factor of osteoporotic fracture. Several studies indicate that bone size has a high heritability. Thus, a better understanding of genetic factors regulating bone size might have important clinical implications. In the present study, we examined the relationship between the collagen type I alpha 1 (COL1A1) gene and bone size at the spine, hip and wrist in a sample of 1873 subjects of Caucasian origin from 405 nuclear families. Three single-nucleotide polymorphisms (SNPs) in the COL1A1 gene were analyzed. The minor allele frequencies were 15.4, 18.8, and 1.9% for SNP1, SNP2, and SNP3, respectively. Haplotypes were reconstructed based on the family information as well as marker genotypes using the program Genehunter. We did not find evidence of population stratification, within-family association, or linkage for either single SNPs or haplotypes at any skeletal site. Suggestive evidence of total association was observed for the wrist size at SNP2 (P=0.011). After adjusting age, sex, height, and weight, subjects with the T allele of SNP2 had, on average, 3.05% smaller wrist size than noncarriers. When the subjects were divided into families with only female offspring and families with male offspring only, similar total associations were found at the wrist size for SNP2 with P-values of 0.011 and 0.010, respectively. In conclusion, the COL1A1 gene may have some effects on bone size variation at the wrist, but not at the spine or hip in our Caucasian nuclear families.European Journal of Human Genetics (2004) 12, 383-388. doi:10.1038/sj.ejhg.5201152 Published online 14 January 2004 [ABSTRACT FROM AUTHOR]
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- 2004
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23. Tests of linkage and/or association of the LEPR gene polymorphisms with obesity phenotypes in Caucasian nuclear families.
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Yong-Jun Liu, Rocha-Sanchez, Sonia M. S., Peng-Yuan Liu, Ji-Rong Long, Yan Lu, Elze, Leo, Recker, Robert R., and Hong-Wen Deng
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- 2004
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24. High heritability of bone size at the hip and spine in Chinese.
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Wei-Xia Jian, Koh-ichiro, Ji-Rong Long, Koh-ichiro, and Hong-Wen Deng
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BONE fractures , *HEREDITY , *SPINE , *BACK , *ABSORPTION (Physiology) , *GENETICS - Abstract
Bone size, an independent determinant of bone strength, is an important risk factor for osteoporotic fracture. In the present study, we investigated the magnitude of the genetic determination of bone size at the spine and hip and their genetic covariation (if any) in a population of Chinese residing in Shanghai City of P.R. China. The subjects were 50 healthy full-sib pairs of females, 188 mother-daughter pairs, and 128 husband-wife pairs selected from 401 nuclear families. Bone size (centimeters squared) was measured at the spine and hip by dual-energy X-ray absorptiometry (DEXA). The narrow-sense heritabilities h[sup 2] (SE) of bone size at the spine and hip were 0.63 (0.14) and 0.45 (0.14) respectively when estimated by full-sib pairs, and 0.60 (0.07) and 0.69 (0.07) respectively when estimated by mother-daughter pairs. Marginally significant genetic correlation was observed between the spine and hip bone size. The significantly and moderately high h[sup 2] values for bone size demonstrated in this study warrant a subsequent genetic study to search for the genes or genomic regions underlying the phenotype in Chinese. [ABSTRACT FROM AUTHOR]
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- 2004
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25. Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
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Dvornyk, Volodymyr, Ji-Rong Long, Dong-Hai Xiong, Peng-Yuan Liu, Lan-Juan Zhao, Hui Shen, Yuan-Yuan Zhang, Yong-Jun Liu, Rocha-Sanchez, Sonia, Peng Xiao, Recker, Robert R., and Hong-Wen Deng
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DISEASES , *GENES , *OBESITY , *OSTEOPOROSIS , *DATABASES - Abstract
Background: Public SNP databases are frequently used to choose SNPs for candidate genes in the association and linkage studies of complex disorders. However, their utility for such studies of diseases with ethnic-dependent background has never been evaluated. Results: To estimate the accuracy and completeness of SNP public databases, we analyzed the allele frequencies of 41 SNPs in 10 candidate genes for obesity and/or osteoporosis in a large American-Caucasian sample (1,873 individuals from 405 nuclear families) by PCR-invader assay. We compared our results with those from the databases and other published studies. Of the 41 SNPs, 8 were monomorphic in our sample. Twelve were reported for the first time for Caucasians and the other 29 SNPs in our sample essentially confirmed the respective allele frequencies for Caucasians in the databases and previous studies. The comparison of our data with other ethnic groups showed significant differentiation between the three major world ethnic groups at some SNPs (Caucasians and Africans differed at 3 of the 18 shared SNPs, and Caucasians and Asians differed at 13 of the 22 shared SNPs). This genetic differentiation may have an important implication for studying the well-known ethnic differences in the prevalence of obesity and osteoporosis, and complex disorders in general. Conclusion: A comparative analysis of the SNP data of the candidate genes obtained in the present study, as well as those retrieved from the public domain, suggests that the databases may currently have serious limitations for studying complex disorders with an ethnic-dependent background due to the incomplete and uneven representation of the candidate SNPs in the databases for the major ethnic groups. This conclusion attests to the imperative necessity of large-scale and accurate characterization of these SNPs in different ethnic groups. [ABSTRACT FROM AUTHOR]
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- 2004
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26. IGF-I and IGF-II Genetic Variation and Breast Cancer Risk in Chinese Women: Results from the Shanghai Breast Cancer Study.
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Deming, Sandra L., Zefang Ren, Qiuyin Cai, Xiao-Ou Shu, Wanqing Wen, Ji-Rong Long, Yu-Tang Gao, and Wei Zheng
- Abstract
The article discusses a study which investigated the relationship of 23 single-nucleotide polymorphisms (SNP) in insulin-like growth factor (IGF)-I and IGF-II genes with the risk of developing breast cancer. The study included patients from the Shanghai Breast Cancer Study, a case-control study of breast cancer prevalence in Shanghai, China. It concluded that IGF-I or IGF-II genes may not influence breast cancer risk in Chinese women.
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- 2008
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27. Interaction of Soy Food and Tea Consumption with CYP19A1 Genetic Polymorphisms in the Development of Endometrial Cancer.
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Wang Hong Xu, Qi Dai, Yong Bing Xiang, Ji Rong Long, Zhi Xian Ruan, Jia Rong Cheng, Wei Zheng, and Xiao Ou Shu
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GENETIC polymorphisms ,POPULATION genetics ,AROMATASE ,POLYPHENOLS - Abstract
Certain polyphenols inhibit the activity of aromatase, a critical enzyme in estrogen synthesis that is coded by the CYP19A1 gene. Consumption of polyphenol-rich foods and beverages, thus, may interact with CYP19A1 genetic polymorphisms in the development of endometrial cancer. The authors tested this hypothesis in the Shanghai Endometrial Cancer Study (1997–2003), a population-based case-control study of 1,204 endometrial cancer cases and 1,212 controls. Dietary information was obtained by use of a validated food frequency questionnaire. Genotypes of CYP19A1 at rs28566535, rs1065779, rs752760, rs700519, and rs1870050 were available for 1,042 cases and 1,035 controls. Unconditional logistic regression models were used to calculate odds ratios and their 95% confidence intervals after adjustment for potential confounding factors. Higher intake of soy foods and tea consumption were both inversely associated with the risk of endometrial cancer, with odds ratios of 0.8 (95% confidence interval: 0.6, 1.0) for the highest versus the lowest tertiles of intake of soy and 0.8 (95% confidence interval: 06, 0.9) for ever tea consumption. The association of single nucleotide polymorphisms rs1065779, rs752760, and rs1870050 with endometrial cancer was modified by tea consumption (pinteraction CYP19A1 genetic polymorphisms on the development of endometrial cancer. [ABSTRACT FROM AUTHOR]
- Published
- 2007
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