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Background: Despite the greater prevalence of familial hypercholesterolemia (FH) in subjects with ischemic heart disease (IHD), premature IHD, and severe hypercholesterolemia (low-density lipoprotein ≥190 mg/dl), overall prevalence estimates are not available.Objectives: The aim of this study was to provide worldwide estimates of FH prevalence in subjects with IHD, premature IHD, and severe hypercholesterolemia compared with those in the general population.Methods: In this systematic review and meta-analyses, Embase, PubMed, and the Web of Science were searched until June 3, 2019, for peer-reviewed papers and conference abstracts reporting heterozygous FH prevalence in nonfounder populations, revealing 104 studies eligible for inclusion.Results: Estimates of FH prevalence were pooled using random-effects meta-analyses and were 0.32% (95% confidence interval [CI]: 0.26% to 0.39% [corresponding to 1:313]) among 10,921,310 unique subjects in the general population (33,036 patients with FH) on the basis of 44 studies, 3.2% (95% CI: 2.2% to 4.3% [1:31]) among 84,479 unique subjects with IHD (2,103 patients with FH) on the basis of 28 studies, 6.7% (95% CI: 4.9% to 8.7% [1:15]) among 31,316 unique subjects with premature IHD (1,471 patients with FH) on the basis of 32 studies, and 7.2% (95% CI: 4.6% to 10.8% [1:14]) among 17,728 unique subjects with severe hypercholesterolemia (920 patients with FH) on the basis of 7 studies. FH prevalence in the general population was similar using genetic versus clinical diagnoses. Seventeen of 195 countries (9%) in the world have reported FH prevalence for the general population, leaving 178 (91%) countries in the world with unknown prevalence.Conclusions: Compared with 1:313 among subjects in the general population, FH prevalence is 10-fold higher among those with IHD, 20-fold higher among those with premature IHD, and 23-fold higher among those with severe hypercholesterolemia. The prevalence of FH is unknown in 90% of countries in the world. [ABSTRACT FROM AUTHOR]

Background A number of studies have been conducted to investigate associations between genetic polymorphisms in interleukin-17 (IL-17) pathway and the risk of gastrointestinal diseases. Results, however, have been inconclusive. We aimed to evaluate these associations through a meta-analysis. Methods We searched electronic databases (PubMed, Embase, Web of Science, CBM and CNKI) to identify papers, published before October 2014, on associations between polymorphisms in the IL-17 pathway genes (rs2275913, rs763780, rs3748067, rs3819025, rs9382084, rs12203582 and rs8193036) and the risk of gastrointestinal diseases. We estimated the strength of candidate associations through calculating pooled odds ratios (ORs) and 95% confidence intervals (CIs). A test of heterogeneity, a false-positive report probability (FPRP) test, sensitivity analyses and examination for bias were further conducted to evaluate cumulative evidence of these associations. Results We identified 25 eligible case–control studies retrieved from 16 articles involved in a total of 4507 cases and 5733 controls. Of them, IL-17 (−197G/A) polymorphism (rs2275913) was statistically significantly associated with risk of gastrointestinal diseases, especially for gastrointestinal malignancy and gastroduodenal diseases. Based on heterogeneity ( P < 0.05) and FPRP ( P < 0.2) identified in this study, we graded cumulative epidemiological evidence of an association with gastrointestinal diseases for this polymorphism. However, IL-17 (7488T/C) polymorphism (rs763780) did not show significant associations with gastrointestinal diseases either individually or overall ( P > 0.05). Conclusion Our study provides moderate evidence that IL-17 (− 197G/A) polymorphism may be a potential risk factor for gastrointestinal diseases, particularly for malignancy. Further validation of this association in a large homogeneous study is warranted. [ABSTRACT FROM AUTHOR]