Association of ACE ID, MTHFR C677T, and MIF-173GC variants with the clinical course of COVID-19 patients.

The course of coronavirus disease-2019 (COVID-19) differs from person to person. The relationship between the genetic variations of the host and the course of COVID-19 has been a matter of interest. In this study, we investigated whether Angiotensin-Converting Enzyme (ACE) ID, Methylenetetrahydrofolate Reductase (MTHFR) C677T, and Macrophage Migration Inhibitory Factor (MIF)-173GC variants are risk factors for the clinical course of COVID-19 disease in Turkish patients. One hundred COVID-19 patients were included in the study. The diagnosis of COVID-19 was made using Reverse Transcription Polymerase Chain Reaction (RT-PCR) and Chest Computed Tomography (CT). The patients were evaluated in 3 groups: intensive care, service, and outpatient treatment. ACE ID, MTHFR C677T, and MIF-173GC variants were genotyped by PCR-Restriction Fragment Length Polymorphism (RFLP) methods. When the genotype distribution between the groups was examined, it was found that the frequency of the ACE DD genotype and the D allele was higher in the intensive care group compared to the hospitalized and outpatient groups. MTHFR C677T CT genotype T allele and MIF-173GC, CC genotype C allele were more prevalent in the intensive care group compared to other groups. Patients with PCR-positive results had a higher MTHFR C677T C/C genotype and C allele. In CT-positive patients, the MTHFR C677T CT genotype and the MIF-173GC, G allele were more common. It is predicted that genetic predisposition may contribute to COVID-19 morbidity and mortality. Our results show that ACE ID, MTHFR C677T, and MIF-173GC variants affect the course of COVID-19 disease in the Turkish population.

The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey.

OBJECTIVE: Familial Mediterranean fever (FMF) is a common, inherited, autosomal recessive inflammatory disease in children. The diagnosis of FMF is based on clinical features and positive family history supported with genetic testing. This study aimed to determine the frequency and distribution of Mediterranean fever (MEFV) gene alterations of a city in Northern Anatolia. MATERIALS AND METHODS: We evaluated MEFV gene mutations in 374 children preliminary diagnosed as FMF by a commercial kit based on real-time polymerase chain reaction technique in a one-year period, and screened 12 mutations. RESULTS: At least one mutation was detected in 213 patients (57%) and 38 genotypes with 11 distinct mutations.A total of 137 (64. 3%) of mutation-positive children were heterozygous, 45 (21. 1%) were compound heterozygous, and 2 (0.9%) were complex heterozygous; and 14 (6.4%) patients were homozygous, 6 (2.8%) were compound homozygous, and 3 (1.4%) were complex homozygous. With a frequency of 50.1%, R202Q was the most common mutation. Also, R202Q/M694V was the most common compound heterozygous genotype. In 43 alleles, R202Q-M694V mutations were found to be in linkage disequilibrium. In our cohort, M694V, E148Q, V726A, and M680I (G/C) were other common mutations; whereas F479L, A744S, K695R, P369S, M694I, and R761H were the rare mutations. None of our patients had M680I (G/A) mutation. CONCLUSION: We determined the most common MEFV alteration prevalence in children of our region for the first time. The high R202Q mutation and linkage disequilibrium (LD) rates were the remarkable results of this study.

Vitamin D Status in a Population of Well Children: Amasya Sample.

OBJECTIVE: The aim of this study was to determine the vitamin D status of children living in Amasya, a city in northern Turkey. Vitamin D is an essential hormone for the health of the musculoskeletal system and acts as a modulator for the immune system, a protector of the cardiovascular system and a regulator of metabolic homeostasis. METHODS: A total of 2551 healthy individuals aged 1 to17 years enrolled in this study. They were divided into 4 groups, according to their ages. Vitamin D status was classified based on the 2015 global consensus statement from the Endocrine Society. The data were collected from the hospital record system, retrospectively, and categorized according to age, gender, and the season in which the blood sample was taken for the measurement of 25 (OH) D levels. RESULTS: Only 39% of the subjects were found to have sufficient vitamin D levels (>50 nmol/l [i.e., >20 ng/ml]), while the rest had poor vitamin D status. The insufficiency and deficiency problems were greater in females especially in winter and increasing with age. CONCLUSION: The high frequency of poor vitamin D status in otherwise healthy children indicates a necessity for supplementation and for implementing lifelong strategies that increase and maintain adequate levels of sun exposure.