Genotype data for 60 SNP genetic markers associated with eye, hair, skin color, ABO blood group, sex, core Y-chromosome haplogroups in Kazakh population.

OBJECTIVES: The collection of genotype data was conducted as an essential part of a pivotal research project with the goal of examining the genetic variability of skin, hair, and iris color among the Kazakh population. The data has practical application in the field of forensic DNA phenotyping (FDA). Due to the limited size of forensic databases from Central Asia (Kazakhstan), it is practically impossible to obtain an individual identification result based on forensic profiling of short tandem repeats (STRs). However, the pervasive use of the FDA necessitates validation of the currently employed set of genetic markers in a variety of global populations. No such data existed for the Kazakhs. The Phenotype Expert kit (DNA Research Center, LLC, Russia) was used for the first time in this study to collect data. DATA DESCRIPTION: The present study provides genotype data for a total of 60 SNP genetic markers, which were analyzed in a sample of 515 ethnic Kazakhs. The dataset comprises a total of 41 single nucleotide polymorphisms (SNPs) obtained from the HIrisPlex-S panel. Additionally, there are 4 SNPs specifically related to the AB0 gene, 1 marker associated with the AMELX/Y genes, and 14 SNPs corresponding to the primary haplogroups of the Y chromosome. The aforementioned data could prove valuable to researchers with an interest in investigating genetic variability and making predictions about phenotype based on eye color, hair color, skin color, AB0 blood group, gender, and biogeographic origin within the male lineage.

[DNA Phenotyping of Remains from Elite Burials of the Khazar Period of Southern Russia].

Ancient DNA analyses help to solve the problems related to the genogeographic origin and migration patterns of populations. The Khazar Khaganate is a subject of controversy among researchers. Its complex historical development, lack of a sufficient number of artistic and written sources, the disappearance of representatives of Khazar culture leaves open the question of the appearance of the Khazars. DNA phenotyping of bone remains from elite burials of the Khazar period of Southern Russia was carried out with respect to eye color, hair color, skin color, and AB0 blood groups. Eight out of 10 individuals had brown eyes, dark hair (to varying degrees), and a predominantly dark skin during their lifetime. Individuals from two burials had gray-blue eyes, and one individual had blond hair. The most probable AB0 blood group was identified in eight people, of which five blood group 0 (I) group, four had blood group A (II), and one had blood group B (III). The allele frequency distribution was assessed for ten population-specific autosomal markers and suggested high heterogeneity for the ethnogeographic origin of the Khazars examined. The results are evidence for ethnocultural, genetic, and phenotypic diversity of the Khazar Khaganate.

[A Biochip for Genotyping Polymorphisms Associated with Eye, Hair, Skin Color, AB0 Blood Group, Sex, Y Chromosome Core Haplogroup, and Its Application to Study the Slavic Population].

This paper presents a method for genotyping a panel of 60 single nucleotide polymorphisms (SNPs) using single-stage PCR followed by hybridization on a hydrogel biochip. The pool of analyzed polymorphisms consists of 41 SNPs included in the HIrisPlex-S panel, 4 SNPs of the AB0 gene (261G>Del, 297A>G, 657C>T, 681G>A), markers of the AMELX and AMELY genes, and 14 SNP markers of the Y chromosome haplogroups: B (M60), C (M130), D (CTS3946), E (M5388), G (P257), H (M2920), I (U179), J (M304), L (M185), N (M231), O (M175), Q (M1105), R (P224) and T (M272). These genetic data allow one to predict the phenotype of the desired person according to the characteristics of eye, hair, skin color, AB0 blood group, sex, and genogeographic origin in the male line. The setting protocol is simplified as much as possible to facilitate the introduction of the method into practice. The distribution of allele frequencies of the studied polymorphisms, as well as AB0 blood groups among the Slavs (N = 482), originating mainly from central Russia, was established.

Obstetric outcomes in pregnant COVID-19 women: the imbalance of von Willebrand factor and ADAMTS13 axis.

BACKGROUND: Thrombotic microangiopathy has been invoked as one of the most important mechanisms of damage in COVID-19 patients. Protease ADAMTS13 is a marker of microangiopathy responsible for controlling von Willebrand multimers size. Von Willebrand factor/ADAMTS13 ratio has been found impaired in COVID-19 patients outside pregnancy. METHODS: We prospectively investigated 90 pregnant women admitted to two tertiary academic hospitals in Italy with a laboratory-confirmed diagnosis of SARS-CoV-2 infection. Demographic, clinical information and routine laboratory data were collected at the hospital admission and until discharge. We investigated whether vonWillebrand /ADAMTS13 axis imbalance is a predictor of adverse outcomes. Logistic regression analysis, which controlled for potential confounders, was performed to evaluate the association between laboratory parameters and clinical outcomes. RESULTS: Most women (55.6%) were parae, with median gestational age at admission of 39 weeks. At hospital admission, 63.3% were asymptomatic for COVID-19 and 24.4% showed more than one sign or symptom of infection. Nulliparae with group O showed Willebrand / ADA MTS-13 ratios significantly lower than non-O, whereas in multiparae this difference was not observed. Logistic regression showed that ratio von Willebrand to ADAMTS13 was significantly and independently associated with preterm delivery (OR 1.9, 95%CI 1.1-3.5). CONCLUSION: This study shows an imbalance of vonWillebrand /ADAMTS13 axis in pregnant women with COVID-19, leading to a significantly higher and independent risk of preterm delivery. Monitoring these biomarkers might support decision making process to manage and follow-up pregnancies in this setting.

AB0 Blood Group and Ovarian Cancer Survival.

Background: Epithelial ovarian cancer is the most lethal gynecological malignancy because is usually diagnosed at advanced stage. New prognostic factors have been investigated but these biomarkers do not have a strong direct relationship with survival. Several studies investigated the association between AB0 blood group with ovarian cancer but with conflicting results. We investigated the association between AB0 blood group and epithelial ovarian cancer patients consecutively surgically treated at our department from 2004 to 2015. Methods: Clinical charts of ovarian cancer patients treated and followed from 2004 to 2015 were checked for inclusion and exclusion criteria. Clinical and pathological data were recorded in an electronic separate, anonymous, password-protected database. All relevant data were extrapolated and used for final analysis. Results: A population of 265 ovarian cancer patients was analyzed in this study. 121 (45.6%) patients presented blood type 0, 112 (42.3%) had blood type A, 23 (8.7%) B and 9 (3.4%) AB. A significantly lower percentage of death (8.7%) in patients with blood type B in comparison with patients presenting different genotypes (group 0: 34.7%, group A: 32.1%, group AB: 22.2%) was found. In invasive serous ovarian cancer patients the analysis showed a 5 fold significant reduction of the risk of death in patients with B genotype. However, postoperative residual tumor resulted the most important prognostic factor for overall survival. Conclusions: AB0 blood group might be a preoperative prognostic factor in epithelial ovarian cancer patients. According to the literature, postoperative residual disease remain the most important prognostic factor also in our study.

The role of ABO blood groups in glial neoplasms.

INTRODUCTION: There are numerous diseases that are claimed to have a correlation with AB0 blood groups. Analysis on distribution of blood groups in primary brain tumors and clinical value has revealed conflicting results. The purpose of this study is to evaluate the association between AB0 blood groups and glial neoplasms (GN) and their effects on prognosis. METHODS: A retrospective cross sectional study was performed. Patients admitted between 2000-2014 and had a diagnosis of GN were evaluated. Blood groups of patients were analyzed and compared with the National blood group data obtained from Turkish Red Crescent Society. The prognostic significance of AB0 blood groups was analyzed within glioblastoma multiforme (GBM), anaplastic astrocytoma and grade 1-2 astrocytoma. RESULTS: 759 patients with a diagnosis of glial neoplasia were evaluated. Distribution of AB0 blood groups in the different grades of Glial neoplasia was similar with the national blood group frequencies. There was not a statistically significant difference between grades of glial neoplasia and healthy control patients. Median overall survival (mOS) of GBM patients were 12.9 months in A (95% CI, 10.2-15.5), 13.4 months in B (95% CI, 7.3-19.5), 5.7 months in AB (95% CI, 0.8-10.6), 12.8 months in 0 blood groups (95% CI, 8.6-16.8) (p = .46). mOS of anaplastic astrocytoma patients were 24.4 months in A (95% CI, 15.2-33.6), 47.2 months in B (95% CI, 9.9-84.5), 37.8 months in AB (95% CI, 10.2-80.3), 29.2 months in 0 blood groups (95% CI, 21.2-33.4) (p = .96). mOS in grade 1-2 were 84.2, 90.6 and 144 months for A, AB and 0 blood groups respectively. CONCLUSIONS: In our patient group, when compared with general population, there seems to be no association between frequencies of AB0 blood groups and Glial Neoplasia. In addition, the AB0 blood groups have no prognostic impact on glial neoplasms.

The impact of the AB0 and the Rhesus blood group system on outcomes in bladder cancer patients treated with radical cystectomy.

PURPOSE: To investigate the impact of the AB0 and the Rhesus blood group system on outcomes of urothelial carcinoma of the bladder (UCB) patients treated with radical cystectomy (RC). METHODS: We included 511 UCB patients treated with RC without neoadjuvant chemotherapy from 1996 to 2011 at our institution. Cox and logistic regression models assessed the association of the AB0 blood group antigen and Rhesus factor expression with tumor biologic features and outcomes, respectively. RESULTS: In total, 216 patients (42.3 %) had the blood group antigen A0, 73 patients (14.3 %) the antigen B0, 33 patients (6.4 %) the antigen AB and 189 patients (37.0 %) the antigen 00. In addition, 414 patients (81.0 %) were Rhesus factor positive. The AB0 blood group antigen expression was associated with a higher tumor grade (p = 0.003). In contrast, the Rhesus factor was not associated with any clinicopathologic characteristics. Neither the AB0 blood group antigens nor the Rhesus factor was associated with survival. In a sensitivity analysis of patients receiving adjuvant chemotherapy, however, the blood group antigen AB expression was associated with reduced cancer-specific and overall survival. CONCLUSION: The AB0 blood group antigens and the Rhesus factor are not associated with survival. Although the AB0 blood groups and the Rhesus factor are analyzed in every patient treated with RC, they do not represent appropriate biomarkers for UCB outcome prognostication. The association of the AB0 blood group antigens with response to adjuvant chemotherapy requires further validation.