Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, nineteen associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biologic pathways.

Our novel findings indicate that the inflammation in PPP is initiated by the 'stand-by' innate immune system at the acrosyringium.

Photosensitivity is a well-known manifestation of lupus erythematosus (LE). Since there are no strict criteria for photosensitivity, varying prevalence figures have been reported. Also, distinction from polymorphous light eruption (PLE) can be difficult. The purpose of this study was to characterize photosensitivity in more detail and to determine the occurrence of PLE in a series of well-documented LE patients. A questionnaire was answered by 337 LE patients seen at dermatology departments in Finland and Sweden, and 63 of the patients were invited for interview. According to the questionnaire, LE lesions were made worse by sunlight in 242 (72%) patients. Symptoms consistent with PLE were reported by 165 (49%) patients. Detailed personal interviews supported the results from the questionnaire, and revealed that PLE had started 2-45 years before the onset of LE in 23 of 37 patients with both diagnoses, and more than 7 years before in 18 of 37 (49%). PLE proved to be common in patients with both systemic and cutaneous LE. The two conditions may often coexist and, in about half of the cases, PLE preceded LE. These two diseases may share pathogenic factors. PLE might predispose to LE in a subgroup of PLE patients.

This analysis underscores the challenges of living with fatigue, pain, stiffness/spasticity, and visual difficulties, prevalent NMOSD symptoms among members of the PLM community.

No abstract

Lack of replication is common and could be due to differences in study design, phenotype, populations examined or the occurrence of false positives in the initial study. Variants within TGFB1, IGF1 and IL1RN could have a role in OA susceptibility; however, replication of these findings is required in an independent study.

The incidence of Ro/SSA-positive SCLE in Stockholm County, Sweden is estimated to be 0.7 per 100,000 persons per year as compared with an incidence of SLE in Sweden of 4.8 per 100,000 persons per year. The prevalence is estimated to be 6.2-14 in 100,000 persons. Self-reported photosensitivity commonly corresponds to a history of PLE in Ro/SSA-positive patients, even when the clinical profile of SCLE is absent. Photoprotection should therefore be included in the treatment recommendations for these patients.

We sought to determine the incidence rate of carpal tunnel syndrome in the general population. Using three different case definitions, we conducted a prospective study to ascertain by medical record review all cases of incident disease in a defined population during a 2-year period. Newly diagnosed probable or definite carpal tunnel syndrome (N = 309) occurred at a rate of 3.46 cases per 1,000 person-years (95% confidence interval = 3.07-3.84). The incidence rate in our study was 3.5 times higher than the rate 20 years ago in a Minnesota city. The rate difference probably results from a combination of reasons, including a true rise in incidence.