Genetic variations in OLR1 gene associated with PCOS and atherosclerotic risk factors.

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. The aim of this study was to investigate the association of oxidized low-density lipoprotein receptor 1 (OLR1) gene variations with the susceptibility of PCOS and to examine the relationship between the frequencies of OLR1 gene variations and atherosclerotic risk factors. Genomic DNA was extracted from blood samples collected from 49 patients with PCOS and 43 healthy controls. The variants in the OLR1 gene were identified using next-generation sequencing (NGS). Heterozygous rs11053646 (K167N), rs11611438, rs11611453, and rs35688880 genotype frequencies were significantly higher in the PCOS group than that of control group. Single nucleotide polymorphism (SNP) rs34163097 minor A allele increased the PCOS risk by ∼10-fold (p = 0.03). SNPs rs11053646, rs11611438, rs11611453, rs34163097, and rs35688880 were positively correlated with body mass index (BMI). The logistic regression model (area under the curve: 0.770, p = 0.000) further revealed a combination of 2-h plasma glucose (PG-2 h), dehydroepiandrosterone sulfate (DHEAS), and rs11053646 as predictors of PCOS phenotype. This is the first study reporting the NGS data of OLR1 gene variants which might be associated with the pathogenesis of PCOS and several atherosclerotic risk factors, particularly higher BMI and DHEAS. To fully understand the genetic basis of PCOS and the contribution of OLR1 gene variants to PCOS pathogenesis, additional large-scale studies are warranted.

Assessment of peripapillary retinal nerve fiber layer thickness in children with vitamin B12 deficiency.

PURPOSE: Vitamin B(12) deficiency is a worldwide problem. It affects all ages, including children. It is one of the most common nutritional disorders and can cause harmful effects on the nervous system. In this study, we compared the peripapillary retinal nerve fiber layer thickness (RNFLT) in a healthy control group with children with vitamin B(12) deficiency. In our study, we aimed to evaluate the effect of vitamin B(12) deficiency on the RNFLT in children with the optical coherence tomography (OCT) method. METHODS: Sixty-six children with a diagnosis of vitamin B(12) deficiency (patient group) and 66 age- and sex-matched healthy children (control group) were enrolled in this prospectively designed study. Blood counts, vitamin B(12) levels, folate levels, and full biochemical parameters were obtained for all the subjects in each group. Peripapillary RNFLT measurements were performed with Cirrus HD spectral domain OCT. RESULTS: The thickness of the superior retinal nerve fiber layer (RNFL) in the vitamin B(12) deficiency group was significantly lower than that of the control group (p = 0.037). Although the average thickness of the RNFL was lower in the patient group, there was no statistically significant differences (p = 0.216). In the vitamin B(12) deficiency group, the average RNFL thickness and the superior RNFL thickness were significantly correlated with vitamin B(12) levels ((r1) = 0.353, (p1) < 0.004 and (r2) = 0.416, (p2) = 0.001, respectively). CONCLUSION: Our study showed that a deficiency in vitamin B(12), elsewhere it is important for the development of the central nervous system, is associated with a reduction in the thickness of the superior RNFL.