Classification of major and minor blood group antigens in the Kuwaiti Arab population.

Ethnic differences in blood group frequencies might result in clinically important mismatches for transfusions. Arab people represent a large population for which no comprehensive database of red cell genotypes is available and Kuwaitis are no exception. For instance, the Rh blood group is the most elaborate blood group system that shows a high degree of polymorphism among different ethnic groups, there has been little classification of RH alleles in Arab people. Blood samples from 917 Kuwaiti Arab donors in the Kuwaiti Bone Marrow registry were tested with a single-nucleotide polymorphism DNA array. Blood group antigen prevalence were compared to known prevalence in European populations. Multiple subjects were found to be antigen negative for certain phenotypes that is considered rare by the American Rare Donor Program; (Fy(a-,b-) and Kell). In the minor blood group antigens, the FYA allele was predicted to be low in Kuwaitis, when compared to other published accounts. The frequencies of MNS blood antigens in the study population were not significantly different from those reported for European/Caucasian populations. The predicted frequency of the Diego blood group antigen was similar to that observed in a South Asian population. The weak D 1, 2, 3 phenotypes were not prevalent in the Kuwaiti Arab population; however, other RHD variants were detected. We provided information about blood group antigens in the Kuwaiti population that is important for guiding transfusion care. Several interesting findings demonstrated clinical importance, which could be useful in developing transfusion medicine policies and approaches.

Single nucleotide polymorphisms (rs3736228 and rs4988321) in low-density lipoprotein receptor-related protein-5 gene with predisposition to rheumatoid arthritis.

BACKGROUND: LRP5 (Lipoprotein Receptor 5) is one of the representatives of the low-density lipoprotein receptors family that play a crucial role in the process of bone homeostasis and bone remodeling. The role of LRP5 single nucleotide polymorphisms (SNPs) rs3736228 and rs4988321 has been associated with the susceptibility to osteoporosis and bone fracture. The frequency of mentioned LRP5 SNPs is unknown among RA (Rheumatoid Arthritis) patients. The case-control study was designed to determine the association of targeted SNPs among RA patients. METHODOLOGY: Patients were selected by ACR/EULAR 2010 criteria. After ethical approval blood samples of patients and healthy individuals were collected. DNA was extracted from the whole blood followed by amplification of the targeted region by T-ARMS PCR (Tetra-primer Amplification Refractory Mutation System) obtained product was observed on agarose gel electrophoresis. The data were analyzed by statistical and bioinformatic tools. RESULTS: It was observed that the SNPs rs3736228 and rs4988321 showed significant association with the risk of RA [χ2 = 44, p =< 0.001, O.R 95 % CI = 2.495, (1.865 âˆ¼ 3.337), p =< 0.001] and [χ2 = 85, p =< 0.001, O.R 95 % CI = 2.05, (1.571 âˆ¼ 2.69), p =< 0.001] respectively. Haplotypes AT, GC, and GT were found to be significantly associated with the risk of RA. Furthermore, both SNPs were in 40 % LD (Linkage Disequilibrium). CONCLUSIONS: The study revealed that SNPs rs3736228 and rs4988321 were significantly associated with the increased susceptibility to RA. The study serves as the baseline data considering targeted SNPs and their association with the progression of the disease. The study might be utilized for the development of potential biomarker for diagnostic purposes and in the precision medicine approach.

Pharmacogenomics of platinum-based chemotherapy in non-small cell lung cancer: focusing on DNA repair systems.

Drug therapy for non-small cell lung cancer consists mainly of platinum-based chemotherapy regimens. However, toxicity, drug resistance, and high risk of death have been seen in the clinic, which means there is a need for optimizing the use of medications. Platinum resistance could be mediated by a series of DNA repair pathways, and therefore, these pathways should be taken into account for optimizing drug using. The goal of pharmacogenomics is to elucidate genetic factors, such as DNA repair genes, which might underlie drug efficacy and effectiveness, and to improve therapeutic effects or guide personalized therapy as well. Here, we reviewed the current knowledge of pharmacogenomic data on DNA repair systems and examined whether they could be further translated into the clinic with evidence-based perspectives.

Genetic variants in BMP8B gene are associated with growth traits in Chinese native cattle.

As a signaling molecule, bone morphogenetic protein 8B (BMP8B) plays an essential role in bone metabolism and is able to regulate thermogenesis and energy balance, which suggests that BMP8B gene may be a new candidate for growth traits. Here, to characterize the effects of BMP8B gene on growth traits, we first used three Chinese indigenous cattle breeds (n=845) to detect single nucleotide polymorphisms (SNPs). Five novel SNPs of BMP8B gene (g.-242C>T, g.2164C>T, g.2639T>C, g.2900C>G and g.10817C>T) were identified by DNA pool sequencing and forced PCR-RFLP. And then we associated the five SNPs with four growth traits (body weight, body length, heart girth, and hucklebone width). Results from association analysis showed that the SNPs 1, 2, and 3 affected growth trait(s) markedly (P<0.05). Further, 6 combined haplotypes were constructed to guarantee the reliability of analysis results. There were also significant differences in body length, heart girth and body weight between the 6 combined haplotypes (P<0.05), but not in hucklebone width (P>0.05). Collectively, our results suggest a modulatory role of BMP8B gene in cattle growth and development, and 3 SNPs could be used as molecular markers in early marker assisted selection (MAS) in beef cattle breeding program.