An efficient test of deviation from Hardy–Weinberg frequencies with one degree of freedom was applied to 44 marker loci in a genome scan, and 7 loci had a significant excess of apparent homozygotes (χ2(1) > 6) suggestive of typing error. In this example evidence for linkage did not increase when outliers were censored. Statistical quality control is an essential part of genotyping, and the effect of mistyping and map error should be considered in evaluating any genome scan.

Atopy and asthma are complex genetic diseases resulting from the interactions of a number of genetic and environmental factors. We had previously reported allelic association between the IL9 marker on chromosome 5q31-33 and atopy. In order to further investigate the role of susceptibility genes on 5q31-33 in the development of atopy and asthma we have studied 240 UK families comprising 131 families selected at random, 60 multiplex families with affected sib pairs, and 49 single proband nuclear families. Polymorphic markers on 5q31-33 were genotyped and both single and multipoint linkage analysis was undertaken using the BETA program. We have used both affection status and quantitative scores for atopy and asthma for phenotypic variables, combining data into scores for asthma and atopy. The strongest suggestion of linkage using multipoint analysis was centred around D5S410 with a maximum Lod of 1.946 at location 171.3 cM and a standard error of 3.3 for the asthma quantitative score. There was no evidence of linkage with atopy, the atopy quantitative score or total serum IgE. Genes and Immunity (2001) 2, 20-24.

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Investigate possible correlations between genetic polymorphisms of IL17A G197A (rs2275913) and IL17F T7488C (rs763780) with the development of keratoconus (KC) in patients from a population of the northwestern part of the State of São Paulo. Were enrolled 35 patients and 61 controls. Genotyping of IL17A G197A and IL17F T7488C polymorphisms was carried out using the PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) technique. The evaluation of IL17F T7488C SNP found that the TT genotype is associated as a risk factor for the development of KC (P = 0.04; OR = 2.97; CI = 1.09–8.33). As for the evaluation of IL17A G197A SNP, the allele and genotype frequencies between patients and controls were compared and no statistically significant differences were found. The TT genotype of IL17F T7488C SNP apparently contributes to the development of KC and the IL17A G197A SNP seemingly has no influence on the progression of the disease in the population of this study.

Background Ocular toxoplasmosis (OT) is a frequent clinical manifestation due to infection by Toxoplasma gondii. It is characterized by an inflammatory process involving macrophages activated by pro-inflammatory cytokines. The expression of microRNAs takes place during the inflammatory process and, among them, miRNA 511 regulates the activation of macrophages. This study evaluated the expression of miRNA 511_5p in patients with OT and healthy controls. Methods A total of 361 patients from the Hospital de Base of Fundação Faculdade de Medicina de São José do Rio Preto were enrolled and divided into four groups: G1–patients with active ocular lesions and reagent serology for T. gondii; G2–patients with scars and reagent serology for T. gondii; G3–patients without ocular lesions or scars and reagent serology for T. gondii; G4–patients without ocular lesions or scars and non-reagent serology for T. gondii. All patients underwent clinical and laboratory evaluation to confirm the diagnosis of OT. Serology tests, RNA extraction and cDNA synthesis were performed. Results The miRNA 511_5p levels were compared among the groups. The G1 group showed a high blood plasma concentration of miRNA 511_5p (mean 22.34) compared with the G2 (4.65), G3 (8.91) and G4 (3.52) groups (p<0.0001). Conclusion These data suggest that miRNA 511_5p has significant potential as a biomarker for OT.