Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Publisher Copyright: © 2022, The Author(s).Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes.Peer reviewe

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology (Nature Communications, (2022), 13, 1, (634), 10.1038/s41467-022-28167-1)

The original version of this Article contained an error in Fig. 3, in which the blue and red trend lines on the left plot were incorrect. In addition, the text “Dorsalgia variants” in the table should have been italicized and underlined. The correct version of Fig. 3 is: (Figure presented.) which replaces the previous incorrect version: (Figure presented.). This has been corrected in both the PDF and HTML versions of the Article. © The Author(s) 2022

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes. © 2022, The Author(s)

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes. © 2022, The Author(s)

Morfologia externa dos cicadellinae (homoptera, cicadellidae): comparação entre versigonalia ruficauda (walker) (cicadellini) e tretogonia cribrata melichar (proconiini), com notas sobre outras espécies e análise da terminologia External morphology of the cicadellinae (homoptera, cicadellidae): comparison between versigonalia ruficauda (walker) (cicadellini) and tretogonia cribrata melichar (proconiini), with notes on other species and an analysis of the structural terminology

<abstract language="eng">The external morphology of two cicadelline species, Versigonalia ruficauda (Walker, 1851) (Cicadellini) and Tretogonia cribrata Melichar, 1926 (Proconiini), is analyzed. The head, axillary sclerites, wing venation, female genitalia, and tegumentary processes are described. Notes on other Cicadellini - Amblyscarlidia albofasciata (Walker, 1851), Tettisama quinquemacidata (Germar, 1821), Macugonalia lencomelas (Walker, 1851), and Diedrocephala variegata (Fabricius, 1775) - and Proconiini - Ciccus adspersus (Fabricius, 1803), Homoscarta superciliaris (Jacobi, 1905), Ichthyobelus sp., and Rhaphirrhinus phosphoreus (Linnaeus, 1758) - are added. A technique for dissecting the female genitalia is presented. The facial porlion of head in V. ruficauda, T. cribrata, and remaining species has a large sclerite (frons or postfrontofrons) clearly defined by the frontogenal suture. Below the frons, and separated from it by the epistomal suture, a smaller sclerite is present (clypeus). The identification of these sclerites is based on comparisons with descriptions in the literature of a generalized Pterygota, a Psocoptera, a fossil Hemipteroidea, and other Homoptera. The conclusions about the identities of frons and clypeus corroborate the hypotheses of Hamilton (1981) on the homologies of cephalic areas in Rhynchota. The facial sclerites have modifications related with the xyleniomyzous diet. The frons is swollen, providing a larger area for attachmcnt of cibarial muscles. Other modifications increasing the area of frons are observed in the Proconiini. In C. adspersus its lateral margins are distinctly pronounced and its upper portion has a pair of lateral elevations. In Ichthyobelus sp. and R. phosphoreus the upper part of frons is greatly developed, occupying 4/5 of dorsal area of head on middle line. The vertex is limited to a small portion (1/5) of that area. The clypeus is also swollen, a fact related with the greater development of cibarium. This character is more conspicuous in the Proconiini. In this tribe the clypeus has a convex projection occupied by the cibarium, which is greatly devcloped. The pronotum and forewings in T. cribrata are covered by pits, each with a seta on external margin. These pits are similar (and maybe homologous) to struetures in the abdomen of a membracid (Goniolomus tricomiger Stål. 1869). The pronotum is smooth in V. ruficauda. However, pits similar to those of T. cribrata, although smaller. oceur near the forewing veins. A strong costal vein is present in the forewings of the 10 studied species. This vein is formed by a fusion between precosta (PC), costa anterior (CA), and costa posterior (CP). Vestiges of subcosta posterior (ScP) and media (M) occur in the forewing base. A vein formed by a fusion between anal (A) and jugal (J) veins is observed along the inner margin of clavus. In the hindwings, PC, CA, and CP are also fused. The occurrence of PC can be inferred by the presence of the wing coupling lobe. which represents its final part. Jugal anterior (JA) is fused to anal posterior (AP"). Jugal posterior (JP) occurs as a small rudiment at hindwing base. The characters of fore - and hindwings confirm the observations of Dworakowska (1988) on the Cicadellidae. The presence of PC and J corroborates Kukalová-Peck's (1983) model of the primitive pterygote venation. Comparisons between the Cicadellinae and a description of a fossil species of the order Diaphanopterodea (Kukalová-Peck 1992) revealed remarkable similarities in female genitalia. Such similarities (manifested in the positions of gonocoxites eight and nine, gonangulum, valvulae eight and nine, and lergite nine) permit a correct interpretation of the genital structurcs in the subfamily. The sclerites of the genital chamber described by Young (1977) in females of various Cicadellini are the reduced eighth abdominal sternite. Sclerotized plates in this sternite occur in A. albofasciata, T. quinquemaculata, T. cribrata, C. adspersus, and H. superciliaris. Comparisons carried out among these Cicadellinae, allied with data from the literature, indicate that the eighth sternum can provide useful characters for the subfamily taxonomy. Features of potential taxonomic interest in valvulae eight and nine include tegumentary processes (valvulae eight), shaft form, and teeth form and distribution (valvulae nine). Lists with the terms suggested for head, wings, and female genitalia are included, together with synonyms proposed by other taxonomists and morphologists

The HITRAN 2008 molecular spectroscopic database

This paper describes the status of the 2008 edition of the HITRAN molecular spectroscopic database. The new edition is the first official public release since the 2004 edition, although a number of crucial updates had been made available online since 2004. The HITRAN compilation consists of several components that serve as input for radiative-transfer calculation codes: individual line parameters for the microwave through visible spectra of molecules in the gas phase; absorption cross-sections for molecules having dense spectral features, i.e. spectra in which the individual lines are not resolved; individual line parameters and absorption cross-sections for bands in the ultraviolet; refractive indices of aerosols, tables and files of general properties associated with the database; and database management software. The line-by-line portion of the database contains spectroscopic parameters for 42 molecules including many of their isotopologues. © 2009 Elsevier Ltd.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Human immunodeficiency virus continuum of care in 11 european union countries at the end of 2016 overall and by key population: Have we made progress?

Background. High uptake of antiretroviral treatment (ART) is essential to reduce human immunodeficiency virus (HIV) transmission and related mortality; however, gaps in care exist. We aimed to construct the continuum of HIV care (CoC) in 2016 in 11 European Union (EU) countries, overall and by key population and sex. To estimate progress toward the Joint United Nations Programme on HIV/AIDS (UNAIDS) 90-90-90 target, we compared 2016 to 2013 estimates for the same countries, representing 73% of the population in the region. Methods. A CoC with the following 4 stages was constructed: number of people living with HIV (PLHIV); proportion of PLHIV diagnosed; proportion of those diagnosed who ever initiated ART; and proportion of those ever treated who achieved viral suppression at their last visit. Results. We estimated that 87% of PLHIV were diagnosed; 92% of those diagnosed had ever initiated ART; and 91% of those ever on ART, or 73% of all PLHIV, were virally suppressed. Corresponding figures for men having sex with men were: 86%, 93%, 93%, 74%; for people who inject drugs: 94%, 88%, 85%, 70%; and for heterosexuals: 86%, 92%, 91%, 72%. The proportion suppressed of all PLHIV ranged from 59% to 86% across countries. Conclusions. The EU is close to the 90-90-90 target and achieved the UNAIDS target of 73% of all PLHIV virally suppressed, significant progress since 2013 when 60% of all PLHIV were virally suppressed. Strengthening of testing programs and treatment support, along with prevention interventions, are needed to achieve HIV epidemic control