Prevalence of Ocular Morbidity Among School Adolescents of Gandhinagar District, Gujarat

Objective: To study the prevalence of ocular morbidity (abnormal condition) and various factors affecting it among school attending adolescents. Methods: A cross-sectional study was conducted to study abnormal ocular conditions like refractive errors, vitamin A deficiency, conjunctivitis, trachoma, ocular trauma, blephritis, stye, color blindness and pterygium among school adolescents of 10-19 years age in rural and urban areas of Gandhinagar district from January to July, 2009. Systematic sampling was done to select 20 schools having 6th to 12th standard education including 12 schools from rural and 8 from urban areas. Six adolescents from each age year (10-19) were selected randomly to achieve sample size of 60 from each school. In total, 1206 adolescents including 691 boys and 515 girls were selected. Information was collected from selected adolescents by using proforma. Visual acuity was assessed using a Snellen’s chart and all participants underwent an ophthalmic examination carried out by a trained doctor. Results: Prevalence of ocular morbidity among school adolescents was reported 13% (7.8% in boys, 5.6% in girls); with 5.2% have moderate visual impairment. Refractive error was most common ocular morbidity (40%) both among boys and girls. Almost 30% of boys and girls reported vitamin A deficiency in various forms of xerophthalmia. Prevalence of night blindness was 0.91% and of Bitot`s spot 1.74%. Various factors like, illiterate or lower parents’ education, lower socio-economic class and malnutrition were significantly associated with ocular morbidity. Conclusion: Ocular morbidity in adolescents is mainly due to refractive error, moderate visual impairment and xerophthalmia

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.

BACKGROUND & AIMS: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. METHODS: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). RESULTS: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10(-4), with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10(-6); odds ratio [OR], 1.39; 95% confidence interval [CI], 1.028-1.88; Japanese cohort). Although the transethnic meta-analysis evidenced only a suggestive signal (rs2239452, mapping within the PIM2 gene; OR, 1.17; 95% CI, 1.09-1.26; P = 9.93 × 10(-8)), the population-specific meta-analysis showed a genome-wide significant locus in East Asian individuals pointing to the same region (rs7059064, mapping within the GRIPAP1 gene; P = 6.2 × 10(-9); OR, 1.33; 95% CI, 1.21-1.46). Indeed, rs7059064 tags a unique linkage disequilibrium block including 7 genes: TIMM17B, PQBP1, PIM2, SLC35A2, OTUD5, KCND1, and GRIPAP1, as well as a superenhancer (GH0XJ048933 within OTUD5) targeting all these genes. GH0XJ048933 is also predicted to target FOXP3, the main T-regulatory cell lineage specification factor. Consistently, OTUD5 and FOXP3 RNA levels were up-regulated in PBC case patients (1.75- and 1.64-fold, respectively). CONCLUSIONS: This work represents the first comprehensive study, to our knowledge, of the chrX contribution to the genetics of an autoimmune liver disease and shows a novel PBC-related genome-wide significant locus.The article is available via Open Access. Click on the 'Additional link' above to access the full-text.Published version, accepted versio