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An increasing number of epidemiological studies have suggested that birth weight (BW) may be a determinant of bone health later in life, although the underlying genetic mechanism remains unclear. Here, we applied a pleiotropic conditional false discovery rate (cFDR) approach to the genome-wide association study (GWAS) summary statistics for lumbar spine bone mineral density (LS BMD) and BW, aiming to identify novel susceptibility variants shared between these two traits. We detected 5 novel potential pleiotropic loci which are located at or near 7 different genes (NTAN1, PDXDC1, CACNA1G, JAG1, FAT1P1, CCDC170, ESR1), among which PDXDC1 and FAT1P1 have not previously been linked to these phenotypes. To partially validate the findings, we demonstrated that the expression of PDXDC1 was dramatically reduced in ovariectomized (OVX) mice in comparison with sham-operated (SHAM) mice in both the growth plate and trabecula bone. Furthermore, immunohistochemistry assay with serial sections showed that both osteoclasts and osteoblasts express PDXDC1, supporting its potential role in bone metabolism. In conclusion, our study provides insights into some shared genetic mechanisms for BMD and BW as well as a novel potential therapeutic target for the prevention of OP in the early stages of the disease development.

As the major cause of female anovulatory infertility, polycystic ovary syndrome (PCOS) affects a great proportion of women at childbearing age. Although glucagon-like peptide 1 receptor agonists (GLP-IRAs) show therapeutic effects for PCOS, its target and underlying mechanism remains elusive. In the present study, we identified that, both in vivo and in vitro, GLP-1 functioned as the regulator of proliferation and antiapoptosis of MGCs of follicle in PCOS mouse ovary. Furthermore, forkhead box protein O1 (FoxO1) plays an important role in the courses. Regarding the importance of granulosa cells (GCs) in oocyte development and function, the results from the current study could provide a more detailed illustration on the already known beneficial effects of GLP-1RAs on PCOS and support the future efforts to develop more efficient GLP-1RAs for PCOS treatment.

Objective Effective management of thyroid-associated ophthalmopathy (TAO) requires precise identification of the disease activity period as it is responsive to immunosuppressive treatment. Quantitative evaluations of orbital soft tissue are useful for analysing disease stages. We aimed to establish a method for orbital soft tissue volume calculation based on magnetic resonance imaging (MRI) data using 3D reconstruction technology. Furthermore, we validated the accuracy and precision of this method and investigated volume differences between patients with TAO and healthy individuals. Materials and methods Using Mimics software for 3D reconstruction based on orbital MRI data, we quantitatively measured orbital fat volume (FV) and extraocular muscle volume (MV) using a manual phantom, and in patients with TAO and healthy volunteers (n = 10 each). The phantom was made using a combination of butter and chicken muscle and 2 observers measured its volume. Volume calculations were compared to a previously established standard volume. One observer measured a typical TAO case 10 times to calculate intra-observer variability while 3 observers independently measured 10 patients with TAO each to calculate interobserver variability. Orbital soft tissue volumes between 10 patients with TAO and 10 healthy individuals were compared. Results The precision of calculations for the phantom between the 2 observers varied from -4.60% to -2.78% for FV and between -4.13% to 0.71% for MV. Mean differences among repetitive calculations were lower than 4%, except during measurement of MV, which was 5.84%. The intraclass correlation coefficient varied from 0.976 to 0.996. FV was 15.53 ± 3.06 mL in patients with TAO and 11.32 ± 1.68 mL(P = .001)in healthy individuals, while MV was 3.19 ± 0.82 mL in patients with TAO and 2.45 ± 0.57 mL(P = .030)in healthy individuals. Conclusions This method of calculating orbital soft tissue volumes based on MRI data and 3D reconstruction is both reliable and accurate as it yielded significant differences in tissue volume between patients with TAO and healthy individuals.