Commissioning of Versatile Compact Neutron Diffractometer (VCND) at the B-3 Beam Port of Kyoto University Research Reactor (KUR)

Proceedings of the 3rd J-PARC Symposium (J-PARC2019)Owing to successful promotion of the research and education by Kyoto University Research Reactor (KUR), a versatile compact neutron diffractometer (VCND) was designed and built at the B-3 beam port of KUR. With a monochromatic beam of neutrons (wavelength, λ = 1.0 Å), neutron diffraction data can be collected in the scattering angle, 2θ, range of 5–130°. The resolution of the VCND, Δd/d, is approximately 1%, evaluated from the neutron diffraction data of diamond powder. As the first results of the VCND, we demonstrated structural analyses of the following energy storage materials and functional materials: strontium fluoride (SrF₂), lanthanum-nickel intermetallic alloy (LaNi₅), and an austenitic-ferritic stainless steel

POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33

Primary biliary cholangitis (PBC) is a chronic and cholestatic autoimmune liver disease caused by the destruction of intrahepatic small bile ducts. Our previous genome-wide association study (GWAS) identified six susceptibility loci for PBC. Here, in order to further elucidate the genetic architecture of PBC, a GWAS was performed on an additional independent sample set, then a genome-wide meta-analysis with our previous GWAS was performed based on a whole-genome single nucleotide polymorphism (SNP) imputation analysis of a total of 4, 045 Japanese individuals (2, 060 cases and 1, 985 healthy controls). A susceptibility locus on chromosome 3q13.33 (including ARHGAP31, TMEM39A, POGLUT1, TIMMDC1, and CD80) was previously identified both in the European and Chinese populations and was replicated in the Japanese population (OR = 0.7241, P = 3.5 × 10⁻⁹). Subsequent in silico and in vitro functional analyses identified rs2293370, previously reported as the top-hit SNP in this locus in the European population, as the primary functional SNP. Moreover, e-QTL analysis indicated that the effector gene of rs2293370 was Protein O-Glucosyltransferase 1 (POGLUT1) (P = 3.4 × 10⁻⁸). This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC