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PubMed | Shanxi Medical University, Tianjin Medical University, Beijing Hospital, Guangxi Zhuang Autonomous Region Women and Children Care Hospital and Beijing Hospital & Beijing Institute of Geriatrics
Type: Journal Article | Journal: International journal of environmental research and public health | Year: 2016

Prostate cancer (PCa) is a multifactorial disease involving complex genetic and environmental factors interactions. Gene-gene and gene-environment interactions associated with PCa in Chinese men are less studied. We explored the association between 36 SNPs and PCa in 574 subjects from northern China. Body mass index (BMI), smoking, and alcohol consumption were determined through self-administered questionnaires in 134 PCa patients. Then gene-gene and gene-environment interactions among the PCa-associated SNPs were analyzed using the generalized multifactor dimensionality reduction (GMDR) and logistic regression methods. Allelic and genotypic association analyses showed that six variants were associated with PCa and the cumulative effect suggested men who carried any combination of 1, 2, or 3 risk genotypes had a gradually increased PCa risk (odds ratios (ORs) = 1.79-4.41). GMDR analysis identified the best gene-gene interaction model with scores of 10 for both the cross-validation consistency and sign tests. For gene-environment interactions, rs6983561 CC and rs16901966 GG in individuals with a BMI 28 had ORs of 7.66 (p = 0.032) and 5.33 (p = 0.046), respectively. rs7679673 CC + CA and rs12653946 TT in individuals that smoked had ORs of 2.77 (p = 0.007) and 3.11 (p = 0.024), respectively. rs7679673 CC in individuals that consumed alcohol had an OR of 4.37 (p = 0.041). These results suggest that polymorphisms, either individually or by interacting with other genes or environmental factors, contribute to an increased risk of PCa.


Zheng C.-G.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | Liu M.,Peking Union Medical College | Liu M.,Beijing Hospital | Du J.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | And 4 more authors.
Hemoglobin | Year: 2011

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 (-α3.7, -α4.2, ααWestmead and ααCS) 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. © 2011 Informa Healthcare USA, Inc.


Yu L.-H.,Southern Medical University | Liu D.,Southern Medical University | Cai R.,Liuzhou Women and Children Care Hospital | Shang X.,Southern Medical University | And 9 more authors.
Clinical Genetics | Year: 2015

Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number. Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from β-thalassemia allele that was identified ameliorating the severity of α-thalassemia. Because erythroid Krüppel-like factor (KLF1) mutations can modulate the red blood phenotype, we evaluated its effect on the α-thalassemia phenotype. Overall, we identified 72 subjects with five different KLF1 heterozygous mutations in 1468 individuals, including 65 out of 432 α-thalassemia carriers with fetal hemoglobin (HbF) levels ≥1%, 0 out of 310 carriers with HbF levels <1% and 7 out of 726 HbH disease patients. We firstly established the link between KLF1 mutations and relatively elevated hemoglobin A2 (HbA2) and HbF levels, along with lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) values in a group of α-thalassemia carriers. However, we concluded that KLF1 mutations were not significantly linked to HbH disease severity. On the basis of HBA or HBB genotype and gender, clinical severity of patients with HbH disease was correctly predicted in 73.3% cases. It may improve the screening and diagnostic assessment of α-thalassemia. © 2014 John Wiley & Sons A/S.


PubMed | 303rd Hospital of the Peoples Liberation Army, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Maternal and Child Health Hospital, Southern Medical University and 3 more.
Type: Journal Article | Journal: Clinical genetics | Year: 2015

Phenotypic variations in -thalassemia mainly depend on the defective -globin gene number. Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from -thalassemia allele that was identified ameliorating the severity of -thalassemia. Because erythroid Krppel-like factor (KLF1) mutations can modulate the red blood phenotype, we evaluated its effect on the -thalassemia phenotype. Overall, we identified 72 subjects with five different KLF1 heterozygous mutations in 1468 individuals, including 65 out of 432 -thalassemia carriers with fetal hemoglobin (HbF) levels 1%, 0 out of 310 carriers with HbF levels <1% and 7 out of 726 HbH disease patients. We firstly established the link between KLF1 mutations and relatively elevated hemoglobin A2 (HbA2 ) and HbF levels, along with lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) values in a group of -thalassemia carriers. However, we concluded that KLF1 mutations were not significantly linked to HbH disease severity. On the basis of HBA or HBB genotype and gender, clinical severity of patients with HbH disease was correctly predicted in 73.3% cases. It may improve the screening and diagnostic assessment of -thalassemia.


Zhang L.-L.,Harbin Medical University | Sun L.,Beijing Hospital and Beijing Institute of Geriatrics | Zhu X.-Q.,Beijing Hospital and Beijing Institute of Geriatrics | Xu Y.,Tianjin Medical University | And 13 more authors.
Asian Pacific Journal of Cancer Prevention | Year: 2014

Aims: Genome-wide association studies (GWAS) have identified several risk variants for prostate cancer (pCa) mainly in Europeans, which need to be further verified in other racial groups. We selected six previously identified variants as candidates and to define the association with PCa in Northern Han Chinese. Methods: 749 subjects from Beijing and Tianjin in Northern China were included. Six variants (rs10505474, rs7837328, rs4242384, rs7813, rs486907 and rs1058205) were genotyped by high resolution melting (HRM) assays. The individual and cumulative contribution for of the risk of PCa and clinical covariates were analyzed. Results: Among the six candidate variants, onlyrs10505474, and rs7837328, both locating at 8q24 region, were associated with PCa in our population.rs10505474 (A) was associated with PCa (ORrecessive= 1.56, p=0.006); and rs7837328 (A) was associated with PCa (ORdominant= 1.38, p=0.042/ORrecessive=1.99, p=0.003). Moreover, we observed a cumulative effects between them (ptrend=2.58×10-5). The joint population attributable risk showed the two variants might account for 71.85% of PCa risk. In addition, we found the homozygotes of rs10505474 (A) and rs7837328 (A) were associated with PCa clinical covariants (age at onset, tumor stage, respectively) (ORage=0.046, ORtumorstage =0.048). Conclusion: rs10505474 (A) and rs7387328 (A) at 8q24 are associated with PCa and cumulatively confer risk, suggesting the two variations could determine susceptibility to PCa in the Northern Chinese Han population.


He S.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | Qin Q.,Baise Women and Children Care Hospital | Yi S.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | Wei Y.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | And 6 more authors.
Gene | Year: 2016

Thalassemia is one of the most common hereditary blood disorders. Epidemiological data regarding the occurrence and distribution of thalassemia is important for designing appropriate prevention strategies. The objective of this study was to update and reveal the prevalence of thalassemia and mutation spectrum in the Baise region of southern China. We screened 47,500 individuals from Baise region by hematological and genetic analysis. Totally, 11,432 (24.07%) subjects were diagnosed as being carriers and patients of thalassemia, including 7290 (15.35%) subjects with α-thalassemia, 3152 (6.64%) subjects with β-thalassemia and 990 (2.08%) subjects with both α-thalassemia and β-thalassemia. Ten α-thalassemia mutations and 31 genotypes were identified in the α-thalassemia carriers and patients. Meanwhile, 13 β-thalassemia mutations and 26 genotypes were characterized in the β-thalassemia carriers and patients. Furthermore, the true prevalence of nondeletional mutations and Thailand type (-THAI) deletion mutation were first reported in this study. In addition, three cases of αα/ααα3.7, five cases of HKαα/αα and two rare β-globin mutations, -86 (G. >. C) and CD 121 (G. >. T) were first identified in the Chinese Zhuang ethnic populations. Our data indicated that there was great heterogeneity and extensive spectrum of thalassemias in the Baise populations. The findings will be useful for genetic counseling and prevention of severe thalassemia in this region. © 2016.


He S.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | Qin Q.,Baise Women and Children Care Hospital | Yi S.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | Zhou W.,Southern Medical University | And 3 more authors.
Hemoglobin | Year: 2015

We present the first description of a Chinese family with a β-thalassemia (β-thal) mutation -86 (C > G) (HBB: c.-136C > G). This mutation changes the conserved promoter sequence within the proximal CACCC box of the β-globin gene that leads to a phenotype of β+-thal. The β-globin haplotype analysis revealed that the -86 mutation in our case was linked with haplotype I [+ - - + +]. This haplotype was commonly found both in the β-thal mutation and the βA gene. Our results suggest that the -86 mutation possibly does not have a distinct origin. © 2015 Taylor & Francis.


PubMed | Baise Women and Children Care Hospital, Southern Medical University and Guangxi Zhuang Autonomous Region Women and Children Care Hospital
Type: | Journal: Gene | Year: 2016

Thalassemia is one of the most common hereditary blood disorders. Epidemiological data regarding the occurrence and distribution of thalassemia is important for designing appropriate prevention strategies. The objective of this study was to update and reveal the prevalence of thalassemia and mutation spectrum in the Baise region of southern China. We screened 47,500 individuals from Baise region by hematological and genetic analysis. Totally, 11,432 (24.07%) subjects were diagnosed as being carriers and patients of thalassemia, including 7290 (15.35%) subjects with -thalassemia, 3152 (6.64%) subjects with -thalassemia and 990 (2.08%) subjects with both -thalassemia and -thalassemia. Ten -thalassemia mutations and 31 genotypes were identified in the -thalassemia carriers and patients. Meanwhile, 13 -thalassemia mutations and 26 genotypes were characterized in the -thalassemia carriers and patients. Furthermore, the true prevalence of nondeletional mutations and Thailand type (-THAI) deletion mutation were first reported in this study. In addition, three cases of /3.7, five cases of HK/ and two rare -globin mutations, -86 (G>C) and CD 121 (G>T) were first identified in the Chinese Zhuang ethnic populations. Our data indicated that there was great heterogeneity and extensive spectrum of thalassemias in the Baise populations. The findings will be useful for genetic counseling and prevention of severe thalassemia in this region.


Ou S.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji | Year: 2013

To analyze the genetic effect of the abnormal chromosome karyotype, we summarized and studied the clinical data of the new abnormal karyotypes diagnosed at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012. The samples were cultured routinely for the karyotype analysis using G banding and C banding. Chromosomal aberrations were named according to the International System for Human Cytogenetic Nomenclature (ISCN 2009). Among tested samples, 105 new human abnormal karyotypes were identified (86 reciprocal translocation, 10 chromosomal inversion, six derivative chromosome, one duplication, one isochromosome, one partial trisomy and monosomy). The results suggest that chromosomal abnormalities were a major cause of miscarriage, infertility, congenital abnormalities, mental retardation and amenorrhea in humans.


PubMed | Guangxi Zhuang Autonomous Region Women and Children Care Hospital
Type: Journal Article | Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics | Year: 2014

To study the relationship between abnormal karyotypes and clinical phenotypes among children in genetic counseling in Guangxi Zhuang Autonomous Region, China.We studied 601 children who visited Guangxi Zhuang Autonomous Region Women and Children Care Hospital for genetic counseling between January 2009 and July 2012. Blood samples were cultured routinely for karyotype analysis with G banding as well as clinical analysis.Out of 601 patients, 329 (54.7%) had chromosomal abnormalities, and 8 new abnormal human karyotypes were found. Among 329 children with abnormal karyotypes, 317 (96.4%) had an abnormal number of chromosomes, and 12 (3.6%) had abnormal chromosomal structure. Abnormal karyotypes were clinically manifested by Downs syndrome (74.5%), growth retardation (10.9%), and mental retardation (3.0%).Eight rare abnormal karyotypes were found in the study, providing new resources for the genetic studies and etiological analysis of growth retardation, mental retardation, gonadal dysgenesis, and multiple congenital anomalies in children.

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