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Liu M.,Shanxi Medical University | Shi X.,Beijing Institute of Geriatrics | Wang J.,Beijing Hospital | Xu Y.,Tianjin Medical University | And 14 more authors.
Clinical Laboratory | Year: 2015

Background: The tumor suppressor forkhead box P4 (FOXP4) plays important roles in oncogenesis, and the FOXP4 variant rsl983891 is associated with prostate cancer (PCa) in several studies. However, association studies conducted in Northern and Southern Chinese have provided conflicting results. Therefore, here we performed fine mapping of FOXP4 to identify the association with PCa and the potential application in Chinese men. Methods: We examined 11 variants spaced approximately 55 kb apart spanning FOXP4 using high-resolution melting-curve analysis and sequencing methods in 286 PCa patients and 630 controls, and the association between these variants and PCa risk was evaluated. Additionally, we evaluated the cumulative effect of rs4714476 and 2 variants in 8q24 (rsl6901966, rsl0090154) confirmed in our previous study. Results: Of 11 SNPs, only rs4714476-C at the 5′ near gene of FOXP4 was associated with increased age-adjusted PCa risk (p = 0.012, OR = 1.32, 95% CI = 1.06-1.63) and aggressive PCa (p = 0.026). The CG haplotype covering rs4714476-C demonstrated significant differences between PCa cases and controls (p = 0.009). The cumulative effect analysis showed men who carried any combination of 1,2, or 3 risk genotypes had a gradually increased PCa risk (age-adjusted OR is from 1.244 to 3.312). Conclusions: These data suggest that rs4714476 at the 5′ near gene of FOXP4 potentially contributes to the susceptibility of PCa in Chinese men. The cumulative effect of rs4714476 at FOXP4 and 8q24 could increase PCa risk. Source

Jin Z.,Capital Medical University | Pu L.,Capital Medical University | Sun L.,Beijing Hospital and Beijing Institute of Geriatrics | Chen W.,Capital Medical University | And 20 more authors.
PLoS ONE | Year: 2014

Objective: Adiponectin receptor 1 (encoded by ADIPOR1) is one of the major adiponectin receptors, and plays an important role in glucose and lipid metabolism. However, few studies have reported simultaneous associations between ADIPOR1 variants and type 2 diabetes (T2D), coronary artery disease (CAD) and T2D with CAD. Based on the "common soil" hypothesis, we investigated whether ADIPOR1 polymorphisms contributed to the etiology of T2D, CAD, or T2D with CAD in a Northern Han Chinese population. Methods: Our multi-disease comparison study enrolled 657 subjects, including 165 with T2D, 173 with CAD, 174 with both T2D and CAD (T2D+CAD), and 145 local healthy controls. Six ADIPOR1 single nucleotide polymorphisms (SNPs) were genotyped and their association with disease risk was analyzed. Results: Multi-case-control comparison identified two ADIPOR1 variants: rs3737884-G, which was simultaneously associated with an increased risk of T2D, CAD, and T2D+CAD (P-value range, 9.80×10-5-6.30×10-4; odds ratio (OR) range: 1.96-2.42) and 16850797-C, which was separately associated with T2D and T2D+CAD (P-value range: 0.007-0.014; OR range: 1.71-1.77). The risk genotypes of both rs3737884 and 16850797 were consistently associated with common metabolic phenotypes in all three diseases (P-value range: 4.81×10 -42-0.001). We observed an increase in the genetic dose-dependent cumulative risk with increasing risk allele numbers in T2D, CAD and T2D+CAD (Ptrend from 1.35×10-5-0.002). Conclusions: Our results suggest that ADIPOR1 risk polymorphisms are a strong candidate for the "common soil" hypothesis and could partially contribute to disease susceptibility to T2D, CAD, and T2D with CAD in the Northern Han Chinese population. © 2014 Jin et al. Source

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. Source

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. Source

Zheng C.-G.,Guangxi Zhuang Autonomous Region Women and Children Care Hospital | Liu M.,Peking Union Medical College | Liu M.,Institute of Geriatrics | 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. Source

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