The analyses of selected genes have led to identification of numerous sequence variants in the examined Ecuadorian family. Both substitution c.214+242C > T in IL1RN and novel deletion c.2558+149_2558+203del54 in SLC4A11 were observed significantly more frequently in family members with KTCN (P = 0.004525 and P = 0.00761, respectively), suggesting involvement of these two genes in KTCN etiology in the studied family.

Elevated level of DNA damage was observed in patients with depression. Furthermore, single nucleotide polymorphisms (SNPs) of base excision repair (BER) genes may modulate the risk of this disease. Therefore, the aim of this study was to delineate the association between DNA damage, DNA repair, the presence of polymorphic variants of BER genes, and occurrence of depression. The study was conducted on peripheral blood mononuclear cells of 43 patients diagnosed with depression and 59 controls without mental disorders. Comet assay was used to assess endogenous (oxidative) DNA damage and efficiency of DNA damage repair (DRE). TaqMan probes were employed to genotype 12 SNPs of BER genes. Endogenous DNA damage was higher in the patients than in the controls, but none of the SNPs affected its levels. DRE was significantly higher in the controls and was modulated by BER SNPs, particularly by c.977C>G–hOGG1, c.972G>C–MUTYH, c.2285T>C–PARP1, c.580C>T–XRCC1, c.1196A>G–XRCC1, c.444T>G–APEX1, c.-468T>G–APEX1, or c.*50C>T–LIG3. Our study suggests that both oxidative stress and disorders in DNA damage repair mechanisms contribute to elevated levels of DNA lesions observed in depression. Lower DRE can be partly attributed to the presence of specific SNP variants.Electronic supplementary materialThe online version of this article (doi:10.1007/s12035-016-9971-6) contains supplementary material, which is available to authorized users.

Purpose Keratoconus (KTCN) is described as a non‐inflammatory thinning and anterior protrusion of the central cornea which results in altered refractive powers, and loss of visual acuity. The etiology of KTCN remains unknown. Both genetic and environmental factors are associated with the disorder. The purpose of this study was to identify novel genetic factors involved in familial form of KTCN by extensive analysis of multigenerational Ecuadorian family. Methods A total of 22 individuals from KTCN‐019 family were included into this study. Genomic DNA samples of all members of KTCN‐019 family were genotyped with highly polymorphic microsatellite markers. After linkage was established, two positional and functional candidate genes, IL1A and IL1B, were examined with polymerase chain reaction amplification, and direct sequencing of all exons, and intron‐exon boundaries was performed. Results The disease susceptibility locus was mapped on 2q13 chromosome in KTCN‐019 family. Sequencing analysis of the candidate genes, IL1A and IL1B have revealed numerous alterations in coding and non‐coding sequences of both genes including several novel single nucleotide polymorphisms. No mutations segregated with KTCN phenotype have been identified. Conclusion Analysis of IL1A and IL1B genes revealed no mutations segregating with affected phenotype in large Ecuadorian family, indicating that other genes are involved in KTCN causation in this family.