Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.

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Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.

Transfus Apher Sci. 2014 Dec 18;

Authors: Belsito A, Costa D, Fiorito C, De Iorio G, Casamassimi A, Perrotta S, Napoli C

Abstract
BACKGROUND AND OBJECTIVES: Although minor erythrocyte antigens are not considered clinically significant in sporadic transfusions, they may be relevant for multi-transfusion patients. When serological assay is not conceivable, molecular genotyping allows predicting the red blood cell phenotype, extending the typing until minor blood groups. The aim of this study was to evaluate the utility of blood group genotyping and compare the molecular typing of erythrocyte antigens with the established serological methods.
MATERIALS AND METHODS: We selected 225 blood donors and 50 transfusion-dependent patients at the Division of Immunohematology of the Second University of Naples. Blood samples were analyzed with NEO Immucor automated system and genotyped for 38 red blood cell antigens and phenotypic variants with the kit HEA BeadChip™. The comparative study was conducted for RhCE and Kell antigens whose typing is available with both methods.
RESULTS: We observed a good correlation between serological and molecular methods for donors that were concordant for 99.5% (224/225) and discordant for 0.5% (1/225). Patients resulted concordant only for 46.0% (23/50) and discordant for 54.0% (27/50); discrepancies were 46.0% (23/50) and 8.0% (4/50) for RhCE and Kell systems respectively. Through molecular genotyping we also identified polymorphisms in RhCE, Kell, Duffy, Colton, Lutheran and Scianna loci in donors and patients.
CONCLUSIONS: Blood group genotyping is particularly useful for poly-transfused patients. Molecular analysis confirms and extends serological test data and then allows us to obtain a better match. This molecular assay can be used in the future to prevent alloimmunization in transfusion-dependent patients.

PMID: 25582271 [PubMed - as supplied by publisher]

De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.

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De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.

J Genet. 2014 Dec;93(3):869-73

Authors: Córdova-Fletes C, Sáinz-González E, Avendaño-Gálvez RI, Ramírez-Velazco A, Rivera H, Ortiz-López R, Arámbula-Meraz E, Picos-Cárdenas VJ

PMID: 25572250 [PubMed - in process]

An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population.

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An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population.

Eur J Med Res. 2015 Jan 9;20(1):3

Authors: Liu NJ, Wu HH, Li YL, Yang Z, Tao XM, Du YP, Wang XC, Lu B, Zhang ZY, Hu RM, Wen J

Abstract
BackgroundGenome-wide association studies (GWAS) have reported that the polymorphism rs5219 of the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) is associated with type 2 diabetes mellitus (T2DM). Given that diabetic retinopathy (DR) is one of the most common microvascular complications of T2DM, GWAS have identified a number of potential susceptibility genes for DR. However, only a fraction of them have been replicated in different studies and show consistent genetic associations with the occurrence of DR. The aim of the present study was to investigate whether common variants of KCNJ11 confer DR in a cohort of the Chinese Han population.MethodsA case¿control study of 580 T2DM patients, including 105 T2DM with DR and 475 T2DM without DR was performed. A single nucleotide polymorphism (SNP) of KCNJ11 (rs5219) was genotyped, and its association with DR was explored using a dominant genetic model. Genotyping was performed by iPLEX technology. Univariate and multivariate logistic regression (MLR) analysis controlling for confounders was conducted to evaluate the association between rs5219 and DR.ResultsThe A allele frequency of rs5219 was significantly higher in DR patients than that in the patients without DR (49.01% versus 38.68%, P <0.05). We found the minor A allele could increase the risk to develop DR (ORint¿=¿1.58, 95% CI: 1.139 to 2.192 for allele and P¿=¿0.006, ORint¿=¿1.607, 95% CI: 1.267 to 2.038 for genotype and P <0.001) in the Chinese Han population.ConclusionsOur findings provided evidence that KCNJ11 was associated with DR in Chinese Han patients with T2DM.

PMID: 25573672 [PubMed - as supplied by publisher]

Interleukin 17A and Interleukin 17F Polymorphisms Are Associated With Oral Squamous Cell Carcinoma Susceptibility in a Chinese Population.

Interleukin 17A and Interleukin 17F Polymorphisms Are Associated With Oral Squamous Cell Carcinoma Susceptibility in a Chinese Population.

J Oral Maxillofac Surg. 2015 Feb;73(2):267-73

Authors: Li N, Zhang C, Chen Z, Bai L, Nie M, Zhou B, Xu H

Abstract
PURPOSE: Several studies have investigated the association of the interleukin (IL) 17A and IL-17F polymorphisms and cancer of various organs. However, the role of the IL-17A and IL-17F polymorphisms in oral squamous cell carcinoma (OSCC) remains unclear. Thus we sought to clarify the association of the rs2275913, rs763780, and rs2397084 polymorphisms with OSCC in a Chinese population.
MATERIALS AND METHODS: A TaqMan single-nucleotide polymorphism Genotyping Assay (ABI, Foster, CA) was used to measure the distributions of the IL-17A (rs2275913) and IL-17F (rs763780, rs2397084) polymorphisms in 121 OSCC patients and 103 healthy controls. The association of those polymorphisms and clinical OSCC patient characteristic also was evaluated.
RESULTS: Individuals carrying the rs2275913 A allele and AA genotype had an increased risk of OSCC (odds ratio [OR], 1.463; 95% confidence interval [CI], 0.807 to 2.652; and OR, 2.713; 95% CI, 1.250 to 5.889, respectively). The frequency of the rs2397084 T allele was significantly associated with a higher risk of OSCC than the G allele (OR, 1.501; 95% CI, 1.026 to 2.196). No difference in rs763780 frequencies was observed. The rs2275913 AA and rs2397084 TT genotypes also were associated with late clinical stages and poor tumor differentiation. In addition, stratification analysis indicated that the rs2275913 AA genotype increased OSCC risk among smoking and drinking populations (OR, 4.000; 95% CI, 1.404 to 11.394; and OR, 3.500; 95% CI, 1.018 to 12.030, respectively). In a smoking population, an rs9382084 T-allele carrier has a greater potential risk of OSCC than the overall population (OR, 2.200; 95% CI, 1.009 to 4.797).
CONCLUSIONS: The results of this study suggest a significant association of rs2275913 and rs2397084 but not rs763780 with OSCC risk, and this was related to tumor stage and differentiation. In addition, the IL-17A and IL-17F polymorphisms can interact with smoking and drinking to enhance the risk of OSCC developing.

PMID: 25579009 [PubMed - in process]

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