Codominant Alleles Research Articles

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.

Human plasminogen (PLG), the zymogen of the fibrinolytic protease, plasmin, is a polymorphic protein with two widely distributed codominant alleles, PLG/Asp453 and PLG/Asn453. About 15 other missense or non-synonymous single nucleotide polymorphisms (nsSNPs) of PLG show major, yet different, relative abundances in world populations. Although the existence of these relatively abundant allelic variants is generally acknowledged, they are often overlooked or assumed to be non-pathogenic. In fact, at least half of those major variants are classified as having conflicting pathogenicity, and it is unclear if they contribute to different molecular phenotypes. From those, PLG/K19E and PLG/A601T are examples of two relatively abundant PLG variants that have been associated with PLG deficiencies (PD), but their pathogenic mechanisms are unclear. On the other hand, approximately 50 rare and ultra-rare PLG missense variants have been reported to cause PD as homozygous or compound heterozygous variants, often leading to a debilitating disease known as ligneous conjunctivitis. The true abundance of PD-associated nsSNPs is unknown since they can remain undetected in heterozygous carriers. However, PD variants may also contribute to other diseases. Recently, the ultra-rare autosomal dominant PLG/K311E has been found to be causative of hereditary angioedema (HAE) with normal C1 inhibitor. Two other rare pathogenic PLG missense variants, PLG/R153G and PLG/V709E, appear to affect platelet function and lead to HAE, respectively. Herein, PLG missense variants that are abundant and/or clinically relevant due to association with disease are examined along with their world distribution. Proposed molecular mechanisms are discussed when known or can be reasonably assumed.

MMP-3-1171 5A/6A promoter polymorphism and cancer susceptibility: an updated meta-analysis and trial sequential analysis.

Purpose: Previous studies of MMP-3-1171 5A/6A in cancers haveproduced inconclusive outcomes. This updated meta-analysis wasperformed to clarify the link between this variant and cancer. Methods: Databases including PubMed, Google Scholar, EMBASEand Cochrane were searched for data collection. The associations were calculated by odds ratios with 95% CIs. Results: 63 eligible studies with 14,252 cases and 15,176 controls were included. The codominant2, codominant3, dominant, recessiveand allelemodels were found to be significantly associated with 1.28-, 1.13-, 1.13-, 1.19- and 1.13-foldenhanced overall risk of cancer, respectively. Stratification analysis revealed a 1.28-times enhanced risk of esophageal cancer(codominant1), 1.29- and 1.26-fold(codominant3)and 1.18- and 1.28-fold(recessivemodel)enhanced risk in colorectal and gastrointestinal cancers, respectively, 1.30-, 1.35- and 1.22-times in codominant model1, dominant and allele models for breast cancer, 1.56-fold(codominant2) for gynecological cancer and2.40-times in codominant model2 for hepatocellular cancer. Conclusion: This meta-analysis suggests a significant association between theMMP-3-1171 5A/6A variant and cancer. This meta-analysis was registered at INPLASY (registration number: INPLASY202280049).

Single-cell variations in the expression of codominant alleles A and B on RBC of AB blood group individuals

A key question in biology is whether all cells of a given 'cell type' within an individual have more or less the same phenotype, especially in relation to nonimprinted autosomal loci. Some studies have shown differential allelic expression of autosomal genes to confer phenotypic variability at the individual cell level. Here, we report the amount of A and B histo-blood group antigens, products of classic examples of codominant alleles, in individual red blood cells (RBCs). Using immunofluorescence with Cy3-tagged and FITC-tagged antibodies, we quantified the levels of these antigens in 2512 RBCs from 24 individuals in the AB blood group. When these data were fit to a normal distribution, we could detect four groups: showing normal distribution for both antigens, either antigen, and neither antigen. Surprisingly, very few samples showed a significant positive correlation between the amounts of A and B antigens on individual RBC; in fact, the ratio of antigen A to antigen B in the entire set of samples spanned over five orders of magnitude. This variability in the amount of antigens A and/or B, combined with a lack of correlation between the amounts of these two antigens, resulted in unique staining patterns of RBC, generating widespread mosaicism in the RBC population of AB blood group individuals.

POLYMORPHISM OF THE Β-LACTOGLOBULIN GENE AND DAIRY PRODUCTIVITY OF DIFFERENT SHEEP’S GENOTYPES

POLYMORPHISM OF THE Β-LACTOGLOBULIN GENE AND DAIRY PRODUCTIVITY OF DIFFERENT SHEEP’S GENOTYPES

Evaluation of haemoglobin variants of Red Sokoto goats and Yankasa sheep in Beji, Niger State, Nigeria: Effect on body weight and reproductive parameters

Blood was sampled from 76 Red Sokoto (RS) goats and 76 Yankasa Sheep (YS) to evaluate Haemoglobin (Hb) genotypes and their effect on body weight and some reproductive parameters of the animals. The blood samples were analyzed by cellulose acetate electrophoresis. The electrophoretic test revealed the presence of three co-dominant alleles (A, B and C) which produced four haemoglobin genotypes (AA, AB, BB andBC) in RS goats, and two codominantalleles (AandB) which gave rise to two haemoglobin genotypes (AA and AB) in YS. The frequencies of alleles A, B and C were 0.32, 0.61 and 0.07 in RS goats; and 0.945 and 0.055 for alleles A and B in YS. The estimated heterozygosities were 0.406 and 0.118 in RS goats and YS while the estimated inbreeding coefficients were 0.009 and 0.008 in the RS goats and YS, respectively. The observed and expected genotype frequencies deviated significantly from the expected Hardy-Weinberg equilibrium (P 0.05;chi-square=7.82for RS goats, P 0.01;chi-square = 13.13 for YS).There were significant (P<0.05) differences observed in the body weight of male YS as a result of the Hb type; individuals with Hb AB were observed to have higher body weight (44.00 kg) compared to those with Hb AA (22.83 kg).No significant (P>0.05) difference was observed however in the body weight of RS goats. Male YS with Hb AB had longer (P 0.05) scrotum (26.00 kg) and wider scrotal circumference (33.00 kg) compared to those with Hb AA (18.83kg;25.67kg,respectively). No significant (P>0.05) difference was however observed in there productive parameters of RS goats. It was concluded that polymorphism exist at the Hb locus in the YS and RS goats sampled in Beji and this had an influence on body weight and the reproductive parameters evaluated particularly in the sheep. More heterozygotes were also observed in the population studied there by leading to alow rate of in breeding coefficient in the animals.

Codominant inheritance of polymorphic color mutant and characterization of a bisexual mutant of Gracilaria caudata (Gracilariales, Rhodophyta)

The red alga Gracilaria caudata is one of the main agarophytes exploited on the Brazilian coast. A greenish-brown mutant was found growing side-by-side with the common red wild type in a natural population. In this work, we tested the hypotheses that the greenish-brown phenotype has a recessive nuclear inheritance and less fitness (growth, photosynthesis, number of apices, secondary attachment percentage, and number of cystocarps) under laboratory conditions when compared with the red phenotype. Crosses between plants of the same color (red or greenish-brown) showed tetrasporophytic and subsequent gametophytic generations with parental phenotype. However, heterozygous tetrasporophytes, obtained from crosses between plants with different colors, showed a brown phenotype. From their progeny, we concluded that the brown phenotype is due to a monolocus Mendelian genetic system with two codominant alleles. Bisexual gametophytes were found in the progeny of tetrasporophytic color mutants, which is an unusual and poorly known characteristic in the life cycle of Gracilariales. Red female gametophytes (rd genotype) presented better performance in relation to the greenish-brown female gametophytes (gb genotype): growth rates (rd = 17.14 ± 1.36, gb = 13.81 ± 0.95); number of apices (rd = 41.05 ± 6.35, gb = 16.00 ± 5.47); secondary attachment percentage (rd = 68.75 ± 23.93, gb = 25 ± 0.00); and number of cystocarps (rd = 38.61, gb = 18.81). Our results explain the maintenance of the greenish-brown mutant and the predominance of red specimens in natural population. The life cycle was completed in 5 months, one of the shortest times reported for Gracilaria, highlighting the importance of the species as a possible model organism for reproductive studies and in selecting strains for use in mariculture.

Susceptible gene polymorphism in patients with three-vessel coronary artery disease

BackgroundData of susceptible gene polymorphisms related to progression of coronary atherosclerosis in patients with three-vessel disease (TVD) is limited in China. This case-control study aimed to analyze the differences of variant carrier frequencies between cases and controls, and to explain the possible genetic effects on the progression of TVD.MethodsA total of 8943 TVD patients were consecutively enrolled. Major adverse cardiac and cerebrovascular events (MACCE) included all-cause death, acute myocardial infarction, repeat revascularization, readmission and stroke. Patients with 1-year MACCE in this cohort were selected as MACCE group. Blood samples from MACCE group and non-CAD control groups were collected, and a deoxyribonucleic acid library was created. A total of 34 tag or hot single nucleotide polymorphisms (SNPs) in six genes including CDKN2B-AS1, ADAMTS7, ABO, ADAMTS13, IL-18, and PECAM1 were analyzed by a SNPscan™ multi-genotyping kit. Carrier frequencies of each SNP were compared between the two groups using dominant, recessive and codominant allele model, respectively. Multivariate logistic regression model was established.ResultsVariant allele frequencies of rs10757274, rs1333042, rs1333049, rs4977574, rs9632884, rs1063192 and rs3217986 on CDKN2B-AS1 gene showed significant differences between the two groups in at least one allele model. Variant allele frequency of rs3217986 was not statistically significant after adjusting for the false discovery rate using Benjamini-Hochberg procedure (Q > 0.05). Variant allele frequencies of rs1333049, rs10757274, rs4977574 on CDKN2B-AS1 gene were significantly higher in MACCE group in all dominant, recessive and codominant models. Rs1055432 on ADAMTS13 and rs8176694 on ABO gene showed threshold significance between the two groups. After multivariable adjustment, G mutant homozygous rs9632884 (GG vs. GC + CC) (OR: 0.24; 95% CI: 0.09–0.65; P = 0.005) on CDKN2B-AS1 gene were independent protective factor of MACCE in recessive model.ConclusionsIn patients with TVD in China, variant alleles on CDKN2B-AS1 gene may form part of the genetic basis of coronary atherosclerosis progression, promoting or suppressing ischemic events.

A new disruption observed in the white shrimp Penaeus vannamei caused by the absence of a trypsin allele

In a previous study, the frequency of three different trypsin genotypes of Penaeus vannamei in aquaculture was described. Genotype CBA was the most abundant, followed by genotype CB, but genotype CA decreased its frequency and was not found in shrimps higher than 5 g of body weight. The conclusion was that shrimp with genotype CA inexplicably die under culture conditions. The question was if the process of shrimp aquaculture exerts excess pressure on the CA organisms, will they die? or will they die no matter where they grow?. To answer this question, the trypsin genotype frequencies in 60 breeder shrimp of a natural population were analyzed to predict the trypsin genotype frequency in the next generation. Then, a total of 1000 P. vannamei shrimp within the F1 generation of the same natural population weighing 2, 3, 5, 7 and 15 g were collected for 5 months, and the trypsin genotype frequencies were recorded. The results indicate that the F1 is out of Hardy–Weinberg equilibrium, and the absence of genotype CA in the natural population is similar to that in aquaculture. In conclusion, the process of aquaculture does not exert pressure on the CA genotype; such mortality is associated with another phenomenon not yet understood and deserving of further examination. At the moment, we know that the mortality occurs when shrimp inherit a trypsin codominant allele monomorphic called A, and the absence of allele B, and thus, we named the phenomenon “NON-B disruption”.

Genetic polymorphisms of rs9313422 G>C and rs41297579 G>A at the promoter of TIM-1 gene contribute to the risk of community-acquired pneumonia in children.

ObjectiveTo investigate the association of genetic polymorphisms of rs9313422 G>C and rs41297579 G>A at the promoter of TIM‐1 gene with the risk of community‐acquired pneumonia (CAP) in children.MethodsA total of 112 children with CAP were included as the case group. Another 120 healthy children were enrolled as the control group. Polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) was applied for the genotyping of rs9313422 G>C and rs41297579 G>A in the promoter region of TIM‐1.Resultsrs9313422 G>C was related to the risk of CAP in children under codominant model, dominant model, recessive model, and allele model. Besides, the A allele of rs41297579 G>A could increase the risk of CAP in children. Besides, the haplotype GA (rs9313422‐rs41297579) and GG reduced the risk of children CAP, while haplotype CA had an elevated risk. rs9313422 G>C and rs41297579 G>A polymorphisms were both associated with the severity of CAP in children, and the rs9313422 G>C was also related to the ICU admission rate. In addition, patients carried with the mutant homozygotes of rs9313422 G>C and rs41297579 G>A showed higher levels of white blood cell (WBC), procalcitonin (PCT), and C‐reactive protein (CRP) than the wild type and heterozygous genotypes carriers.Conclusionrs9313422 G>C and rs41297579 G>A polymorphisms in the promoter region of TIM‐1 could increase the risk of CAP in children and showed a relation with inflammatory responses and severity.

Assessment of Genetic Diversity at the Heamoglobin Locus in Selected West African Dwarf Goat Populations in Nigeria

Blood samples were collected from 40 (forty) goats in Kwande Local Government Area, of Benue State, Nigeria. Blood samples collected were subjected to electrophoresis to study haemoglobin polymorphism and its distribution in West African Dwarf goat populations in Kwande. Data on Haemoglobin genotypes were subjected to sample variance (S2) population genetics simulation software for the analysis. Three heamoglobin genotypes (HbAA, HbAB and HbBB) were observed in the West African dwarf goat populations. The haemoglobin gynotypes (HbAA, HbAB and HbBB) were controlled by two co-dominant haemoglobin alleles HbA and HbB. The genotypic frequencies were 0.24, 0.57 and 0.19 for HbAA, HbAB and HbBB respectively. Genotypic frequencies at the haemoglobin locus in West African Dwarf goat were in hardy-weinberg equilibrium. The gene frequencies of HbA and HbB observed were 0.52 and 0.48 respectively with HbA being the most frequent. The low allelic variation may have occur when populations are separated but only for a short time, that the processes of genetic drift and mutation that leads to differentiations of allelic frequencies at selected loci are yet to occur. As the amount of time in which two isolated populations increases, the differences in allelic frequencies will also increase until each population is completely fixed for a number of alleles. These factors may have accounted for the low variation in the heamoglobin allelic frequencies observed in this study. There was also gene-controlled diversity at the haemoglobin locus in the WAD goat populations with heterozygosity (He) value of 0.49, which indicated a moderate level of genetic diversity at the haemoglobin locus in WAD goat populations in Kwande Local Government Area of Benue State, Nigeria.

Melatonin receptor 1B −1193T>C polymorphism is associated with diurnal preference and sleep habits

BackgroundMelatonin modulates the master circadian clock through the activation of G-protein-coupled receptors MT1 and MT2. It is presumed, therefore, that genetic variations in melatonin receptors can affect both sleep and circadian phase. We investigated whether the −1193T > C (rs4753426) polymorphism in the promoter of MT2 receptor gene (MTNR1B) is associated with diurnal preference and sleep habits. This polymorphism was previously associated with sunshine duration, suggesting a role in circadian entrainment. MethodsA total of 814 subjects who completed the Morningness–Eveningness and the Munich Chronotype questionnaires were genotyped for the selected polymorphism. Linear and multinomial regression were performed to test the interaction between gene variants and diurnal preference/sleep habits. ResultsThe −1193C variant was associated with the extreme morningness phenotype in a codominant model (C/C vs. T/T), recessive model (C/C + C/T vs. T/T) and alleles (C vs. T). A negative correlation was found between −1193C alleles and social jetlag scores. The frequency of −1193T allele was higher in the group that stay in bed more than 8 h/night compared to the group that stay in bed less than 8 h/night on weekends. ConclusionTo the best of our knowledge, these data provide the first insights into the role of MTNR1B gene in the regulation of sleep, biological rhythms, and entrainment in humans.

The Sub-Chromosomic Macronuclear Pheromone Genes of the Ciliate Euplotes raikovi: Comparative Structural Analysis and Insights into the Mechanism of Expression.

In Euplotes raikovi, we have determined the full-length sequences of a family of macronuclear genes that are the transcriptionally active versions of codominant alleles inherited at the mating-type (mat) locus of the micronuclear genome, and encode cell type-distinctive signaling pheromones. These genes include a 225-231-bp coding region flanked by a conserved 544-bp 5'-leader region and a more variable 3'-trailer region. Two transcription initiation start sites and two polyadenylation sites associated with nonconventional signals cooperate with a splicing phenomenon of a 326-bp intron residing in the 5'-leader region in the generation of multiple transcripts from the same gene. In two of them, the synthesis of functional products depends on the reassignment to a sense codon, or readthrough of a strictly conserved leaky UAG stop codon. That this reassignment may take place is suggested by the position this codon occupies in the transcripts, close to the transcript extremity and far from the poly(A) tail. In such a case, one product is a 69-amino acid protein in search of function and the second product is a 126-amino acid protein that represents a membrane-bound pheromone isoform candidate to function as a cell type-specific binding site (receptor) of the soluble pheromones.

Allelic differentiation at the Sg-1 locus for the terminal sugar of the C-22 position of group A saponin in Chinese wild soybean (Glycine soja Sieb. & Zucc.)

Group A saponins are thought to be the cause of bitter and astringent tastes in processed foods of soybean (Glycine max), and the elimination of group A saponins is an important breeding objective. The group A saponins include two main Aa and Ab types, controlled by codominant alleles at the Sg-1 locus that is one of several key loci responsible for saponin biosynthesis in the subgenus Glycine soja. However, A0 mutant lacking group A saponin is a useful gene resource for soybean quality breeding. Here, eight Chinese wild soybean A0 accessions were sequenced to reveal the mutational mechanisms, and the results showed that these mutants were caused by at least three kinds of mechanisms involving four allelic variants (sg-10-b2, sg-10-b3, Sg-1b-0, and Sg-1b-01). The sg-10-b2 had two nucleotide deletions at positions + 72 and + 73 involving in the 24th and 25th amino acids. The sg-10-b3 contained a stop codon (TGA) at the 254th residue. The Sg-1b-0 and Sg-1b-01 were two novel A0-type mutants, which likely carried normal structural alleles, and nevertheless did not encode group A saponin due to unknown mutations beyond the normal coding regions. In addition, to reveal the structural features, allelic polymorphism, and mechanisms of the abiogenetic absence of group A (i.e., A0 phenotype), nucleotide sequence analysis was performed for the Sg-1 locus in wild soybean (Glycine soja). The results showed that Sg-1 alleles had a lower conservatism in the coding region; as high as 18 sequences were found in Chinese wild soybeans in addition to the Sg-1a (Aa) and Sg-1b (Ab) alleles. Sg-1a and Sg-1b alleles were characterized by eight synonymous codons and nine amino acid substitutions. Two evolutionarily transitional allelic sequences (Sg-1a7 and Sg-1b2) from Sg-1a toward Sg-1b were detected.

Genetic diversity between exotic and Nigerian indigenous Turkey at different structural loci

Poultry genetic resources in general are considered to be the most endangered and under-conserved, detailed attention is therefore needed on the existing genetic resources to reduce or prevent the increasing genetic erosion of local livestock. This study was conducted to characterize and estimate genetic diversity in Nigerian indigenous turkey and exotic turkey using blood proteins (Haemoglobin, Transferrin and Albumin) and enzyme (Carbonic Anhydrase and Esterase 1) markers. A total of 110 turkeys comprising 50 Nigerian indigenous turkeys and 60 exotic turkeys were used for the analysis. Separation of blood protein genotypes was achieved using cellulose acetate electrophoresis. The populations were characterized for their genetic variability using allele frequencies, observed heterozygosity, F-statistics (FIT, FIS, FST), test for Hardy-Weinberg and Genetic distance. Eleven variants were found at the five loci studied, two co-dominant allele A and B controlling three genotypes AA, AB, and BB were observed at Haemoglobin, Carbonic Anhydrase, Albumin and Esterase1 loci for both indigenous and exotic turkey breeds, a third allele C was observed in Transferrin locus. Allele A was the most frequency at the Hb, CA, Alb and Es1 locus in Nigerian indigenous turkey with frequencies 0.541, 0.541, 0.520, and 0.520 respectively and exotic turkey at Hb, Alb, and Es1 with frequencies 0.508, 0.617, and 0.508 respectively. Chi Square result indicated deviations from Hardy Weinberg equilibrium in the two populations. The average heterozygosity values were 0.56 and 0.477 indicating high genetic variability, heterozygote excess FIT was estimated at -0.050 while within breed excess as evaluated by FIS ranged from 0.370 to -0.336. The fixation index FST revealed that genetic diversity within the studied population was slightly differentiated. Genetic distance among the populations quantified through calculation of Nei’s Genetic distance was 0.008 while the identity was 0.992. Similarity in the estimated genetic variability parameters between the breeds indicates that the populations are closely related and there were no appreciable differences among them. This result obtained may be used as an initial guide in defining objectives for further investigations of genetic diversity and developing conservation strategies.Keywords: Electrophesis; Genetic distance; Polymorphism; Structural loci

Preliminary Assessment of Within-Ecotype Genetic Diversity at the Haemoglobin Locus in the Tiv Local Chickens in Makurdi, Nigeria

This experiment was designed to assess within-ecotype genetic diversity at the haemoglobin (Hb) locus in the Tiv local chickens of Nigeria in Makurdi. Eighty-two (82) blood samples were collected from each bird using needles and vials (SARSTEDT Monovette®). Haemoglobin genotypes were determined using cellulose acetate electrophoresis. Data were analyzed using Population Genetics Simulation (PopGen.S2) software. The result revealed three haemoglobin genotypes (HbAA, HbAB and HbBB) controlled by two co-dominant haemoglobin alleles HbA and HbB in the Tiv local chicken population in Makurdi. Genotype frequencies of HbAA, HbAB and HbBB were 0.44, 0.32 and 0.24, respectively, in the entire chicken population. The gene frequencies of HbA and HbB observed in this study were 0.60 and 0.40, respectively in the entire population. There was moderate heterozygosity (0.48) at the haemoglobin locus in the local chicken population in Makurdi, which is an advantage to the local chicken population.

Apolipoprotein E allelic variants and cerebral palsy.

Gümüş E, Aras BD, Çilingir O, Yarar C, Çarman KB, Laçiner-Gürlevik S, Koçak O, Artan S. Apolipoprotein E allelic variants and cerebral palsy. Turk J Pediatr 2018; 60: 361-371. Cerebral palsy (CP) is the most frequent cause of mobility restriction and posture disturbance in childhood. Against the complexity in disease etiology, genetic factors, including Apolipoprotein E allelic distribution in this patient population, are worthy targets for investigation. ApoE is a lipoprotein of central nervous system encoded by ApoE gene with its 3 main co-dominant alleles, 2, 3 and 4. We aimed to evaluate the allelic frequencies of ApoE gene and its association with coexisting clinical entities such as vision and hearing impairment, cognitive problems, seizures and MRI findings in a pediatric patient population native to middle Anatolian region. Seventy-eight children with CP and 60 healthy controls were genotyped. Genotypic variations along with coexisting clinical conditions and CP-related medical findings were compared between the patient and control groups. The Denver Developmental Screening Test for all, the Wechsler Intelligence Scale for Children-IV (short form WISC-IV; Turkish version) for the patients > 6y and the Stanford-Binet Intelligence Scale (SB-5) for those who aged 2-6 years old were employed to evaluate cognitive and mental abilities of the patients. ApoE 2 and 4 alleles were more frequent in the patient group (p < 0.05), whereas ApoE 3 allele was more frequent in the healthy controls. ApoE 2/4 genotype has been determined 29% in the case group, but none in healthy control group. In the patient group with apolipoprotein 4 or 2 alleles, the rate of emergency cesarean section was found being significantly higher than the group with 3 allele. Brain MRI findings were not significantly different among ApoE allelic variants within the patient group. Our data show that the ApoE alleles may be effective in the development of cerebral palsy and may be associated with some clinical manifestations in those patients.

A Proteogenomic Analysis of Haptoglobin in Malaria.

Haptoglobin (Hp), an acute phase inflammatory protein is associated with malaria pathogenesis in several proteomics and genomics studies. The Hp gene has two co-dominant alleles: Hp1 and Hp2 that produce three genotypes: Hp1/Hp1, Hp1/Hp2 and Hp2/Hp2. In this study, validation of the proteomics data with Multiple Reaction Monitoring Mass Spectroscopy (MRM-MS) is performed and the association of the Hp gene variants with severe, non-severe malaria and community (healthy) controls using genotyping PCRs and DNA sequencing is analysed. Highly significant values of Hp is observed in the MRM assay that show a correlation with severity of malaria and is clearly distinguished from another febrile disease, dengue. Moreover, the Hp2/Hp2 genotype is seen in high percentages in non-severe malaria patients (74%) and community controls (72%) whereas patients diagnosed with severe malaria show only (31%) of this genotype. Sequencing of the Hp promoter region reveals three SNPs along with 10 unique haplotypes, out of which five are associated with non-severe and three with severe malaria populations (χ2 =130; df=18; p<0.0001). This proteo-genomic study focuses on the correlation of the Hp protein and gene with malaria, thus highlighting the pivotal role of this acute phase immune gene in malaria pathogenesis.

A NEW COST-EFFECTIVE METHOD FOR QUANTIFICATION OF TOTAL APOE IN HUMAN PLASMA SAMPLES

Apolipoprotein E (ApoE) is a 34 kDa glycoprotein involved in lipid metabolism. Three common codominant alleles (ε2, ε3 and ε4) encode three ApoE protein isoforms (E2, E3 and E4). The presence of one or two ε4 alleles of the APOE gene is accepted as a reliable biomarker and risk factor of developing late onset Alzheimer's Disease (AD). Recently, we have developed a non-genetic, cost-effective and highly reliable method to detect the presence of apoE4 in human plasma using high-throughput clinical chemistry analysers. The method was based on the use of a proprietary coating agent, which allowed the capture of ApoE4 from plasma samples without using capture antibodies. Recent evidence shows that ApoE plasma levels are associated with increased risk of AD and dementia, independently of APOE genotype; suggesting that plasma ApoE is an easily accessible pre-clinical biomarker of AD. In this work, we explored the use of the same method for the quantification of plasma total ApoE. The nature and stability of ApoE binding to the ELISA plates treated with our proprietary coating solution was explored under a wide range of pH, different buffers and stringent conditions. Additionally, latex particles were used to demonstrate the feasibility of the methodology in suspension. We demonstrated that our methodology successfully bound the ApoE present in plasma without the need of capture antibodies. The binding to the plate is highly stable and not affected by the pH in the range tested (2–10), by the presence of detergents (polysorbate 20, Triton X-100 (from 0–0,5%) or by increasing concentrations of NaCl (0–2.4M). Furthermore, ApoE bound to the ELISA plate could only be released after treatments that destroy the apolipoprotein (enzymatic detergents or sodium hypochlorite). These results suggest that plasma ApoE could be captured and quantified using this methodology. The adaptation of the method to immunoturbidimetry to develop a fast and cost-effective method to quantify ApoE in plasma samples is currently ongoing.

GENETIC VARIATION IN INDIGENOUS TURKEY POPULATIONS IN SOUTH WEST NIGERIA

The study was carried out to assess the genetic variation in indigenous turkey populations in South West Nigeria using seven protein markers: Hemoglobin (Hb), Albumin (Alb), Transferin (Tf), Esterase-1 (Es-1), Alkaline phosphatase (ALP), Carbonic anhydrase (CA), and Esterase-3 (Es-3).. A total of 97 turkey birds from Ibadan, Ijebu Ode and Akure were purposively sampled. Separation of plasma and red cell proteins were determined on cellulose acetate electrophoresis to estimate the genetic variability within and among the populations. The degree of heterozygosity, deviation from Hardy-Weinbergs Equilibrum (HWE), FIS, and FST values were estimated. From a total of 7 loci analyzed, six were found to be polymorphic in all the populations sampled while Es-1 was monomorphic. Two codominant alleles which controlled three different genotypes were observed at each polymorphic loci. Deviations from Hardy Weinberg equilibrium and a deficiency of heterozygotes were observed in all the populations. Average heterozygosities ranged between 0.13 and 0.20, heterozygote deficit FIT was estimated at 0.5784 while within breed deficit as evaluated by FIS ranged from 0.38 to 0.56. The fixation index FST revealed that genetic diversity within the studied population was moderately differentiated. Genetic distance among the populations quantified through calculation of Nei genetic distance ranged from 0.037 - 0.109. The result obtained may be used as an initial guide in defining objectives for future investigations of genetic integrity and developing conservation strategies for Nigeria indigenous turkeys.

The MMP2 rs243865 polymorphism increases the risk of prostate cancer: A meta-analysis.

Prostate cancer is a common cancer in men. However, the association between the rs243865 single-nucleotide polymorphisms in the matrix metalloproteinase 2 gene (MMP2) and the risk for prostate cancer is inconclusive. We searched the PubMed, EMBASE, Cochrane Library, and the Chinese CNKI and WANFANG databases for the relevant literature. Data were extracted and pooled results were estimated from odds ratios (OR) with 95% confidence intervals (95% CIs). The quality of included studies was assessed, and publication bias of all included studies was examined. A total five studies involving 1895 patients with prostate cancer and 1918 controls were included. There was a significant association between rs243865 polymorphisms and higher risk of prostate cancer in the co-dominant model, dominant model, and allele model (CC vs. CT+TT, OR: 1.60, 95% CI: 1.22–2.11, P = 0.001; CC vs. CT, OR: 1.80, 95% CI: 1.34–2.42, P < 0.001; C vs. T, OR: 1.32, 95% CI: 1.05–1.66, P = 0.016, respectively). However, there was no significant difference between the co-recessive model and recessive model. Our meta-analysis results suggest that MMP2 rs243865 polymorphisms are significantly associated with higher risk of prostate cancer.