Hyperbilirubinemia does not influence DNA damage, whereas both conventional and intensive phototherapy are associated with DNA damage in term infants with hyperbilirubinemia.

This study aimed at evaluating possible associations of the single nucleotide polymorphism (SNP) in luteinizing hormone/choriogonadotropin receptor (LHCGR) gene G935A and polycystic ovary syndrome (PCOS) phenotype. The study included 100 PCOS female patients and 60 healthy female control subjects. The patients were recruited from the Gynecology out-patient clinic, Kasr Al-Aini Hospital, Cairo University. All candidates underwent full history taking and clinical examination with calculation of body mass index. Serum and EDTA samples were collected from each patient after a written consent. A hormonal profile was done for each patient as well as DNA analysis of the G935A polymorphism of LHCGR gene. In PCOS group, 26% were homozygous (AA), 27% were heterozygous (GA) and 47% were wild genotype (GG), while in controls 30% were heterozygous and 70% were wild genotype (OR: 2.25; CI: 1.16-4.386; p value: 0.012). The homozygous 935A individuals were at higher risk to develop PCOS than controls (OR: 1.80; CI: 1.54-2.09; p value < 0.001).We found a genetic variant, which is associated with PCOS in a sample of the Egyptian population. These results may provide an opportunity to test this SNP at the LHCGR gene in fertile or infertile women with family history to assess their risk of PCOS.

Transcription factor 7-like 2 (TCF7L2) variants are known risk factors of type 2 diabetes (T2DM).However, this association is not consistent among different populations. The current study aimed at investigating the relationship between rs 7903146, rs 12255372 variants of TCF7L2 and susceptibility to T2DM and different metabolic parameters in a cohort of Egyptian type 2 diabetic patients. This case control study included 60 diabetic patients and 60 matched unrelated healthy controls. Genotyping was performed by using Real Time-PCR. The frequency of genotypes, alleles, anthropometric measures, glycemic indices, HOMA-IR and lipid profile were evaluated in patients and control. Regarding rs 7903146, TT genotype was more frequent in healthy controls (43.3%) than diabetic patients (20%) (OR = 0.291, 95% CI = 0.108-0.788, P = 0.015). T allele was more frequent in healthy control (61.7%) than diabetic patients (44.2%) and it was associated with lower risk of diabetes (OR = 0.492, 95% CI = 0.294-0.823, P = 0.007).However, there was no significant difference between patients with CC, CT and TT genotypes of rs7903146 regarding HbA1C (p=0.549), HOMA-IR (p=0.359), total cholesterol (p=0.482). In contrast, T allele of rs12255372 had no significant relation to diabetes risk (OR = 0.602, 95% CI = 0.361-1.005, P = 0.052). There was no statistically significant difference of frequency of any rs12255372 genotypes between cases and controls In addition, patients with GG,GT, TT genotypes of rs12255372 had no significant difference regarding HbA1C (p=0.393), HOMA-IR (p=0.985), total cholesterol (p=0.368). The study confirmed the association of TCF7L2 (rs 7903146) and T2DM, while failed to detect any association between TCF7L2 (rs 12255372) and susceptibility to T2DM. No significant difference in respect to metabolic parameters between different genotypes of rs7930146 and rs12255372.

Background Inborn errors of immunity (IEI) are a group of heterogeneous disorders with geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is limited due to financial restrictions. This study aims to characterize the genetic spectrum of IEI patients in Egypt and highlights the adaptation of the molecular diagnostic methods to a resource-limited setting. Methods Genetic material from 504 patients was studied, and proper diagnosis was achieved in 282 patients from 246 families. Mutational analysis was done by Sanger sequencing, next-generation sequencing (NGS) targeting customized genes panels, and whole-exome sequencing (WES) according to the patients’ phenotypes and availability of genetic testing. Results A total of 194 variants involving 72 different genes were detected with RAG1/2 genes being the most encountered followed by DOCK8, CYBA, LRBA, NCF1, and JAK3. Autosomal recessive (AR) inheritance was detected in 233/282 patients (82.6%), X-linked (XL) recessive inheritance in 32/282 patients (11.3%), and autosomal dominant (AD) inheritance in 18/282 patients (6.4%), reflecting the impact of consanguineous marriages on the prevalence of different modes of inheritance and the distribution of the various IEI disorders. Conclusion The study showed that a combination of Sanger sequencing in selected patients associated with targeted NGS or WES in other patients is an effective diagnostic strategy for IEI diagnosis in countries with limited diagnostic resources. Molecular testing can be used to validate other nonexpensive laboratory techniques that help to reach definitive diagnosis and help in genetic counseling and taking proper therapeutic decisions including stem cell transplantation or gene therapy.

We investigated the association of the Osteopontin (OPN) (rs9138 and rs1126616) polymorphisms with colorectal cancer (CRC). One hundred CRC patients and 112 healthy individuals were subjected to OPN (rs9138 and rs1126616) genotyping and measurement of OPN protein plasma level. The C allele of OPN rs1126616 and the CC haplotype were significantly higher in CRC patient (p = 0.036, 0.003, respectively). In females, the C allele of OPN rs9318 (A/C) polymorphism was significantly associated with increased CRC risk (p = 0.036). The plasma OPN level >104.35 ng/mL was significantly associated with CRC. Our findings suggest a significant role played by OPN (rs9138 and rs1126616) in colorectal carcinogenesis.