Distribution of HLA epitope frequencies in Turkish population

Objectives The antibodies interact with the “Human Leukocyte Antigen (HLA) antigens” at specific epitopes. “Epitopes” are present on a single HLA or shared by multiple antigens. In this study, we aim to determine the frequency of prevalent epitopes common in the Turkish population. Methods Non-related 644 healthy volunteers were recruited, and The “HLA-A, -B, -C, -DR -DQ’s” were typed using the “Next Generation Sequencing”. The provisional and confirmed epitopes were identified using the “HLA Epitope Registry databases, HLA Epitopia Maps and Immucor Epitope databases” dated 07.02.2018. Epitope frequencies were calculated by counting the shared epitopes in the total number of shared HLA Class epitopes in our sample database. Results Class I HLA’s had 298 epitopes that repeated a total of 158,117 times with frequencies ranging between 0.0006 and 2.03%, and the most frequent epitope was 170RY found on 119 different alleles. Class II HLA’s had 193 epitopes that repeated a total of 93,082 times with frequencies ranging between 0.002 and 1.36%, and the most frequent epitope was 108P found on 42 different alleles. Conclusions Our findings summarize both the provisional, and confirmed epitope frequencies in the Turkish population and may help clinicians and immunogeneticists develop a better understanding of HLA epitope mismatches.

The prevalence and distribution of the flexor carpi radialis brevis muscle in the Turkish population

The flexor carpi radialis brevis (FCRB) is a very rare anomalous muscle that is usually asymptomatic but may cause various pathologies, such as radial-sided wrist pain. The aim of this study was to determine the prevalence of FCRB in the Turkish population, its location, and sex differences. Forearm, wrist, and hand magnetic resonance images of 849 individuals aged 18–65 years were retrospectively evaluated in this study. The survey found an FCRB prevalence of 4%, with a prevalence of 3.6% among women and of 4.7% among men. However, the difference between the sexes was not statistically significant (p = 0.629). The origin of all 34 FCRBs identified was the distal third of the anterior aspect of the radius; the insertion site of 28 was the second metacarpal bone, whereas that of the remaining 6 was the os trapezium. In conclusion, the data of this study report the prevalence of FCRB for the first time in the Turkish population, which will contribute to radiological and surgical evaluations in the region and help in early and accurate diagnosis of various pathological conditions that may be caused by FCRB.

Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients

Introduction: The CHEK2 gene is known to be an important signal transducer involved in DNA repair, apoptosis, or cell cycle arrest in response to DNA damage. The mutations in this gene have been associated with a wide range of cancers, both sporadic and hereditary. Germline CHEK2 mutations are linked to an increased risk of breast cancer. Therefore, the aim of this study was to identify the prevalence of CHEK2 variants in BRCA1/2 and PALB2 negative early-onset patients with breast cancer and/or ovarian cancer in a Turkish population for the first time. Methods: The study included 95 patients with BRCA1/2 and PALB2 negative early-onset breast cancer and/or ovarian cancer and also 60 unaffected women. All the intron/exon boundaries and coding exons of CHEK2 were subjected to mutational analysis by heteroduplex analysis and DNA sequencing. Results: A total of 16 CHEK2 variants were found in breast cancer patients within the Turkish population. CHEK2 c.1100delC mutation studied in the CHEK2 gene most frequently was not detected in our study. The prevalence of variants of uncertain significance in CHEK2 was found to be 7.3% (n= 7) in BRCA1/2 and PALB2 mutation negative Turkish patients with early-onset breast and/or ovarian cancer. Discussion/Conclusion: The present study may shed light on alternative variations that could be significant for understanding the prevalence and clinical suitability of the CHEK2 gene.

Eating Habits and Lifestyle Changes Among Turkish Population During Covid-19 Pandemic Period

This study aimed to investigate the impact of the Covid-19 pandemic on eating habits, and lifestyles including sleeping and smoking habits, and physical activity of the Turkish population aged >15 years using a web-survey. The survey was conducted from the 5th of August to the 4th of October 2020 by using an online platform and disseminated through institutional and private social networks (Facebook and WhatsApp) and institutional mailing lists. The questionnaire consisted of demographic information, anthropometric data, changes in dietary habits, and changes in lifestyle habits. The total number of participants was 1020 in the study and 71.1% of them are female, and 80% of the participants were in the 20-59 age range. More than half of the participants (67.42%) declared that their eating habits and lifestyles changed during the Covid-19 pandemic. Most of the participants (63%) declared that there is no special food that can improve their immunity against the Covid-19. Contrary to them, most of those who added certain foods to their diets or increased the consumption of certain foods to improve the immunity (39.8%), declared that they got that information from social media such as Twitter, Facebook, and WhatsApp. In particular smoking habits did not change and sleep hours increased during the Covid-19 period. Concerning physical activity, no significant difference was found between the percentage of people before and during the Covid-19 period.