Association of ESR1 and C6orf97 gene polymorphism with osteoporosis in postmenopausal women

The estrogen receptor 1 (ESR1) and Chromosome 6 Open Reading Frame 97 (C6orf97) gene polymorphisms were earlier reported to be associated with osteoporosis in the European cohort. The aim of this study was to investigate the association of four single nucleotide polymorphisms (SNP) with bone mineral density (BMD), fracture, vertebral fracture, bone turnover or 25-hydroxyvitamin D [25(OH)D] in 1,753 randomly selected postmenopausal women in China. Vertebral fracture, BMD of lumbar spine (2–4), femoral neck and total hip were measured respectively. Serum N-terminal procollagen of type 1 collagen (P1NP), β-isomerized type I collagen C-telopeptide breakdown products (β-CTX) and 25(OH)D3 were also determined. Binary logistic regression revealed significant associations between fracture risk with rs1999805 (P = 0.041, OR 1.633, 95 %CI 1.020–2.616) and rs6929137 (P = 0.005, OR 1.932, 95 %CI 1.226–3.045) in recessive model. Significant association was also observed between vertebral fracture risk and rs1038304 (P = 0.039, OR 0.549, 95 %CI 0.311–0.969) in recessive model. Liner regression analyses showed that only the CC group of rs4870044 was significantly associated with total hip in dominant model (P = 0.034). Our findings suggest that ESR1 and C6orf97 gene polymorphism is associated with fracture and vertebral fracture risk in Chinese postmenopausal women.     

Ecto-Mesenchymal Stem Cells from Facial Process: Potential for Muscle Regeneration

Ecto-mesenchymal stem cells (EMSCs) originate from the cranial neural crest and participate in the formation of tooth, salivary, and muscle in early development stage. The transplantation of EMSCs, a potential source of myoblast stem cell, might improve muscle regeneration. The purpose of this study was to explore whether EMSCs have the potential to differentiate and display a myogenic phenotype in vitro the in vitro. Here, we characterized the EMSCs isolated from the facial process, and p75 + EMSCs were collected by a FACS calibur flow cytometer. In vitro, p75 + EMSCs induced by DMSO can accumulate and fuse into multinucleated myotubes and further differentiate into the skeletal muscle cells in form of cell sheet. Functional myoblast phenotypes of p75 + EMSCs were found in vivo model of muscle injury. The remarkable ability of stem cells to regenerate skeletal muscle indicated their potential role in the cell therapy and tissue engineering of the skeletal muscle.     

Intercellular adhesion molecule-1 gene K469E polymorphism and ischemic stroke: a case-control study in a Chinese population

Background Intercellular adhesion molecule-1 (ICAM-1) was involved in the pathogenetic mechanisms responsible for ischemic stroke (IS). Population-based sample have revealed gene-gender interaction in blood pressure which is major risk for IS. We sought to evaluate whether ICAM-1 K469E polymorphism was involved in the causation of IS and whether it was different between female and male. Methods A 1:1 case-control study was conducted. The K469E polymorphism of ICAM-1 gene were analyzed by polymerase chain reaction (PCR) and restriction enzyme analysis in Chinese patients with IS (n = 309) and elderly subjects without IS (n = 309). Results ICAM-1 K469E polymorphism was significantly associated with IS. Interestingly, a further analysis stratified by sex found that there was significance between 469E genotypes and IS in female, but not in male. Multiple regression analysis revealed that ICAM-1 K469E polymorphism was still significantly associated with IS, compared with ICAM-1 KK genotype in all population (OR = 1.60, P = 0.030). Stratified by sex, EE combined EK was contributory factor to IS in female (OR = 3.03, P = 0.004), but not in male. After adjustment for confounding factors, the interaction between female and ICAM-1 EK/EE genotypes was found (OR = 3.54, P = 0.001). Conclusions It is suggested that the ICAM-1 469E allele may be important in the pathogenesis of ischemic stroke, especially in female but not in male. Xiao-Xia Li and Jian-Ping Liu have contributed equally.     

Serine peptidase HTRA3 is closely associated with human placental development and is elevated in pregnancy serum

HTRA3 is a newly identified serine peptidase of the mammalian HTRA (high-temperature requirement factor A) family, that is upregulated dramatically during mouse placental development. The current study determined whether HTRA3 was involved in human placentation. During the menstrual cycle, HTRA3 was expressed primarily in the endometrial glands, being significantly upregulated toward the mid- to late secretory phases; prominent expression in the stroma detected only in the decidual cells in the late secretory phase. Thus, overall endometrial HTRA3 expression was highest in the late secretory phase, when the endometrium is prepared for maternal-trophoblast interaction. During the first trimester of pregnancy, both glandular and decidual HTRA3 expression increased further with the decidual upregulation being highly significant. The strong link between HTRA3 expression and endometrial stromal cell decidualization was further established in an in vitro model using primary endometrial stromal cells. HTRA3 was also expressed by certain trophoblast subtypes in the first-trimester placenta: strongly in the villous syncytiotrophoblast, trophoblast shell, and endovascular trophoblast and weakly in the distal portion of the trophoblast cell columns but not in villous cytotrophoblast, the proximal region of the cell columns, or interstitial trophoblast. Upregulation of HTRA3 expression in association with placental development was revealed by a significant elevation of this protein in the maternal serum during the first trimester. We thus propose that HTRA3 is a previously unrecognized factor closely associated with and potentially important for human placentation. This study established crucial groundwork for future investigations toward establishing the physiological roles of HTRA3 in human placentation.     

Biochemistry and Genetic Analysis of Bioeffects of Low Energy N+ Implantation and Y-Radiation on Arabidopsis thaliana

We analyzed the activities of specific enzymes, esterase and peroxidase, and the electrophoresis profiling of isozymes of both the second-generation (M1) and the third-generation (M2) individuals of Arabidopsis thaliana after the parental generation was treated with low-energy N⁺ implantation and γ-radiation. Results indicated that the mutagenic effects of both treatments were inheritable. The obvious difference between N⁺ implantation and γ-radial on the relationship of doses and effects was also observed. For the correlation between effects and doses, the former presented a particular saddle-like pattern, while the latter showed a pattern of linearity. Random amplification of polymorphic DNA analysis showed that the variant DNA bands were consistent in M1 and M2 generations treated with both γ-radiation and ion implantation. However, the ratio of individual plant variation between the two treatments was remarkably different. Translated from Journal of Beijing Normal University (Natural Science), 2005, 41(1) (in Chinese)