Additive Inheritance Research Articles

Association of the vitamin D metabolism gene polymorphism with the severity of coronary lesions assessed by SYNTAX score

This study aimed to determine the association of vitamin D serum blood levels and vitamin D gene polymorphism with the severity of coronary lesions in patients with stable coronary artery disease (CAD). Material and methods. 260 patients with stable CAD (average age was 58 years) were examined in the presented research. All patients were divided into two groups according to the SYNTAX score: low-risk patients with SYNTAX score ≤ 31 (n = 224) and high-risk patients with SYNTAX score > 31 (n = 36). For enzyme-linked immunosorbent assay and genetic analysis, peripheral blood was collected from the cubital vein into vacuum tubes containing coagulation activator and K3-EDTA, respectively. Serum blood level of 25-hydroxyvitamin D (DiaSource Diagnostics, Belgium) and 1,25-dihydroxyvitamin D (Immunodiagnostic Systems, Great Britain) were determined by enzyme-linked immunosorbent assay according to the manufacturers’ protocols. Genomic DNA was isolated by phenol-chloroform extraction method from whole blood. The quality and quantity of isolated DNA were assessed using NanoDrop spectrophotometer (Thermo Fisher Scientific, USA). Five polymorphic variants in the VDR (rs2228570 and rs73123) and GC (rs7041, rs1155563 and rs2298849) genes were selected for analysis. Genotyping was performed by real-time PCR in a 96-well plate with fluorescently labeled TaqMan probes. The quality of PCR was controlled by repeated genotyping of 10 % of the analyzed samples. Results. We found no statistically significant differences in serum blood level of the studied markers in patients from low-risk and high-risk groups. One polymorphic variant in the GC gene associated with the multiple coronary lesions (rs2298849) (odds ratio 2.26, 95 % confidence interval 1.28–3.99, p = 0.006) according to an additive inheritance model was identified. In addition, we determined the association between low serum blood level of 1,25-dihydroxyvitamin D in patients with CAD with multiple lesions of the coronary vascular system with A/A – A/G genotypes of the rs2228570 polymorphism in the VDR gene, A/A genotype of the rs7041 polymorphism and A/A genotype of the rs2298849 polymorphism in the GC gene. Conclusions. Allelic variants in the vitamin D metabolism genes are associated with the degree of coronary artery lesions assessed by the SYNTAX score in patients with stable CAD. Also, serum blood level of the active form of vitamin D (1,25-dihydroxyvitamin D) is less in carriers of homozygous genotypes for the major alleles of the VDR and GC genes.

Nonadditive Effects of Common Genetic Variants Have a Negligent Contribution to Cancer Heritability.

Contribution of dominance effects to cancer heritability is unknown. We leveraged existing genome-wide association data for seven cancers to estimate the contribution of dominance effects to the heritability of individual cancer types. We estimated the proportion of phenotypic variation caused by dominance genetic effects using genome-wide association data for seven cancers (breast, colorectal, lung, melanoma, nonmelanoma skin, ovarian, and prostate) in a total of 166,772 cases and 284,824 controls. We observed no evidence of a meaningful contribution of dominance effects to cancer heritability. By contrast, additive effects ranged between 0.11 and 0.34. In line with studies of other human traits, the dominance effects of common genetic variants play a minimal role in cancer etiology. These results support the assumption of an additive inheritance model when conducting cancer association studies with common genetic variants.

CLINICAL COURSE OF OBESITY-ASSOCIATED ASTHMA DEPENDING ON THE GLN27GLU POLYMORPHIC VARIANT OF THE β2-ADRENORECEPTOR GENE, TAKING INTO ACCOUNT THE AGE OF ONSET

Introduction. Studies have shown that bronchial asthma (BA) associated with obesity has a more severe course, lower control, more frequent cases of low efficacy of basic treatment, and exacerbations. Two phenotypes have been distinguished in BA-obesity comorbidity based on age of onset: early atopic and late non-atopic. It is known that genetic factors associated with β2-adrenoceptor (AR) genes are important in the development of both asthma and obesity.
 The purpose of the study aimed to analyze the association of the Gln27Glu polymorphism of the β2-adrenoceptor gene with the severity of the course of bronchial asthma with obesity, taking into account the age of its onset.
 Research material and methods. 195 asthma patients with obesity consented for the study participation were examined. The control group consisted of 95 practically healthy people. Patients were divided into two clinical groups depending on the age of onset of BA: the first group included 100 patients with an early onset, the second group - 95 patients with a late onset. The diagnosis and treatment of asthma followed the guidelines of the Global Initiative for Asthma (2016) and its updated versions. The study was approved by the Bioethics Commission of the Educational and Scientific Medical Institute of Sumy State University. Determination of the Gln27Glu polymorphism of the β2-AR gene (rs1042714) was performed using the polymerase chain reaction with the subsequent analysis of restriction fragments. Statistical analysis of the obtained results was carried out using the SPSS-17 program. Pearson's chi-squared test was used to compare genotype distributions between experimental groups. To determine the risk of BA and obesity, odds ratios and 95% confidence intervals were calculated for dominant, recessive, superdominant, and additive models of inheritance. Their relevance was assessed using the Akaike information criterion. All tests were two-sided, and values p < 0.05 were considered statistically significant.
 Research results. The frequency of Gln/Gln, Gln/Glu and Glu/Glu genotypes according to the Gln27Glu polymorphism of the β2-AR gene in patients with early-onset obesity-associated asthma was 70.0; 25.0; 5.0% with a mild course and 55.0; 36.2; 8.8% with severe (χ2 = 1.49; p = 0.473); and with a late debut - 50.0; 43.8; 6.2% with mild and 54.0%; 31.7; 14.3%, respectively, with severe (χ2 = 2.10; p = 0.350). Despite the absence of a probable difference in the distribution of genotypes depending on the severity of the course, it was found that the frequency of homozygotes for the minor allele was 1.8 times higher in patients with a severe course of early BA and 2.3 times higher in late BA compared to that in patients with mild BA course.
 The risk of early-onset BA with obesity and a severe course showed no association in all models of inheritance, and in patients with late-onset BA, there was a 1.66-fold increase (95% CI (1.03 – 2.72), p = 0.04) in the additive inheritance model (p = 0.04).
 Conclusions. There are no statistically significant differences in the distribution of genotypes according to the Gln27Glu polymorphism of the β2-AR gene depending on the severity of the course of early and late BA with obesity. The risk of developing a severe course of early BA did not depend on the Gln27Glu polymorphism of the β2-AR gene, and late BA increased by 1.66 times in the additive model of inheritance.

Abstract A109: Novel germline genetic variants in pseudogenes associated with overall survival in advanced stage ovarian cancer treated with carboplatin, paclitaxel, and bevacizumab: Results from the ROSiA trial

Abstract A109: Novel germline genetic variants in pseudogenes associated with overall survival in advanced stage ovarian cancer treated with carboplatin, paclitaxel, and bevacizumab: Results from the ROSiA trial

Association of the C allele of rs479200 in the EGLN1 gene with COVID-19 severity in Indian population: a novel finding

The present study investigated two single nucleotide polymorphisms (SNPs)—rs479200 and rs516651 in the host EGLN1/PHD2 gene for their association with COVID-19 severity. A retrospective cohort of 158 COVID-19 patients from the Indian population (March 2020 to June 2021) was enrolled. Notably, the frequency of C allele (0.664) was twofold higher than T allele (0.336) in severe COVID-19 patients. Here, we report a novel finding that the C allele of rs479200 in the EGLN1 gene imparts a high risk of severe COVID-19 (odds ratio—6.214 (1.84–20.99) p = 0.003; 9.421 (2.019–43.957) p = 0.004), in additive inheritance model (adjusted and unadjusted, respectively).

Diallel crosses in Picea abies VI. Genetic variation in early reproduction in three young Norway spruce progeny trials

Abstract Female flowering and cone production took place in three Norway spruce progeny tests at ages 17 and 20 years, each planted with full-sib families from a half diallel. The number of cones on individual trees were scored in five classes. More than 50 % of the trees produced cones, and a considerable variation was found among families for the ability to produce cones (precocity) and for the number of clones scored in classes (fruitfulness). Both traits were strongly related to tree heights and diameters at the individual and at the family level. In general, tall trees produced the highest number of cones. However, some families produced many cones even if their average heights were low. In two of the half diallels, estimates of GCA variance components for the number of cones produced had twice the value of the SCA component, indicating additive genetic inheritance of cone production. Heritability estimates of cone scores were 0.10, 0.17 and 0.23, and the genetic correlations between cone production and tree heights were 0.40, 0.50 and 0.35 in the tree half-diallels, respectively.

Genetic Potential of Tropically Adapted Exotic Maize (Zea mays L.) Heat-Tolerant Donor Lines in Sub-Tropical Breeding Programs

Breeding for heat stress tolerance became a priority in sub-Saharan Africa (SSA), as projections are showing an increase in frequency, duration, and severity. In this study, 14 heat stress tolerant-donor lines (HSTDLs) sourced from CIMMYT-India (males) were crossed with 15 locally adapted elite lines (females) developed within the CIMMYT-Zimbabwe maize-breeding program using the North Carolina Design II mating scheme. The resultant 175 single crosses were evaluated alongside five commercial hybrids and adjacent to the trial of parental lines used in the crosses across two locations representing heat stress and optimal environments in Zimbabwe. The design II analysis showed significant (p < 0.01) general combining ability (GCA) effects for exotic heat donor lines and specific combining ability (SCA) effects on grain yield under heat stress, optimal conditions, and across locations; demonstrating additive and non-additive genetic inheritance of grain yield. High Baker’s ratios observed in this study indicate predominance of additive over non-additive gene effects. Three exotic HSTDLs, namely CAL14138, CAL152, and CAL1440, exhibited significant (p < 0.001) and positive GCA effects under heat stress conditions. The results imply that these exotic lines could serve as valuable genetic resources for introgression of heat tolerant alleles into local maize populations for accelerated yield genetic gains. Single crosses, DJ265-15 × VL1018816 and DJ267-9 × CAL1440, exhibited positive and significant (p < 0.01) and (p < 0.05) SCA effects for grain yield under heat stress conditions, respectively. These crosses can be used for further breeding and can contribute to grain yield performance under heat stress conditions. The exotic HSTDLs, CAL14138, CAL152, and VL109126 showed superior per se performance under heat, optimal conditions, and across environments. Overall data demonstrate the potential of exotic HSTDLs for improving the adaptation of maize to heat stress in sub-tropical breeding programs.

Association of the ACTN3 Gene's Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals.

To study the associations of SNV rs1815739 (C577T or R577X) allelic variants and genotypes of the ACTN3 gene with qualification and competitive distance in Caucasian athletes of the Southern Urals. A total of 126 people of European origin who lived in the Southern Urals region took part in this study. The first group included 76 cyclical sports athletes (speed skating, running disciplines in track-and-field): SD (short distances) subgroup-40 sprinters (mean 22.1 ± 2.4 y.o.); LD (long distances) subgroup-36 stayer athletes (mean 22.6 ± 2.7 y.o.). The control group consisted of 50 healthy nonathletes (mean 21.4 ± 2.7 y.o.). We used the Step One Real-Time PCR System (Applied Biosystems, USA) device for real-time polymerase chain reaction. The frequency of the major allele R was significantly higher in the SD subgroup compared to the control subgroup (80% vs. 64%; p-value = 0.04). However, we did not find any significant differences in the frequency of the R allele between the athletes of the SD subgroup and the LD subgroup (80% vs. 59.7%, respectively; p-value > 0.05). The frequency of the X allele was lower in the SD subgroup compared to the LD subgroup (20% vs. 40.3%; p-value = 0.03). The frequency of homozygous genotype RR was higher in the SD subgroup compared to the control group (60.0% vs. 34%; p-value = 0.04). The R allele was associated with competitive distance in the SD group athletes compared to those of the control group (OR = 2.45 (95% CI: 1.02-5.87)). The X allele was associated with competitive distance in the LD subgroup compared to the SD subgroup (OR = 2.7 (95% CI: 1.09-6.68)). Multiplicative and additive inheritance models demonstrated that high athletic performance for sprinters was associated with the homozygous dominant genotype 577RR in cyclical sports athletes of Caucasian origin in the Southern Urals.

Pathogenetic significance of polymorphic variants in the <i>TREM-1</i> gene in the multiple organ failure risk after cardiac surgery

Introduction. Searching of highly specific, sensitive and easy-to-use markers of multiple organ failure (MOF) that will help to the early prognosis of this unfavorable condition, prevent complications and reduce mortality in the early postoperative period is very urgent for the modern medicine.Aim: To study the pathogenetic significance of the TREM-1 gene polymorphism in MOF in patients with coronary artery disease (CAD) in the early postoperative period.Material and methods. 592 CAD patients (564 patients with uncomplicated postoperative period and 28 MOF patients) were selected for the presented study. Genotyping polymorphic variants rs1817537, rs3804277, rs6910730, rs7768162, rs2234246, rs4711668, rs9471535 and rs2234237 in the TREM-1 gene was carried out by polymerase chain reaction.Results. It was found that the allele T (rs2234246), the allele G (rs1817537) and the allele T (rs3804277) in the TREM-1 gene were associated with an increased MOF risk after elective surgery according to the dominant inheritance model. TREM-1 polymorphic loci rs7768162 and rs4711668 were associated with a decreased MOF risk according to the additive inheritance model. We found no significant associations between polymorphic variants rs2234237, rs6910730, rs9471535, as well as inherited haplotype and MOF risk. Using the MDR analysis, three most significant models of gene-gene interactions of TREM-1 polymorphic loci associated with MOF risk in patients after cardiac surgery were identified.Conclusion. The obtained results demonstrate a significant contribution of polymorphic variants in the TREM-1 gene to the development of MOF in patients undergoing cardiac surgery.

Recurrent Interpopulation Selection in Popcorn: From Heterosis to Genetic Gains

In view of the need to develop new popcorn cultivars and considering the uncertainties in choosing the most appropriate breeding methods to ensure consistent genetic progress, simultaneously for both popping expansion and grain yield, this study addressed the efficiency of interpopulation recurrent selection regarding genetic gains, the study of the response in genetic parameters as well as heterotic effects on the control of the main agronomic traits of popcorn. Two populations were established, Pop1 and Pop2. A total of 324 treatments were evaluated, which consisted of 200 half-sib families (100 from Pop1 and 100 from Pop2), 100 full-sib families from the two populations and 24 controls. The field experiment was arranged in a lattice design with three replications in two environments, in the north and northwest regions of the State of Rio de Janeiro, Brazil. The genotype × environment interaction was partitioned and the genetic parameters, heterosis and predicted gains were estimated by the Mulamba and Mock index, based on selection results in both environments. The genetic parameters detected variability that can be explored in successive interpopulation recurrent selection cycles. Exploring heterosis for GY, PE and yield components is a promising option to increase grain yield and quality. The Mulamba and Mock index was efficient in predicting the genetic gains in GY and PE. Interpopulation recurrent selection proved effective to provide genetic gains for traits with predominantly additive and dominance inheritance.

TMPRSS2 polymorphism (rs12329760) and the severity of the COVID-19 in Iranian population.

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has been responsible for the recent pandemic since early 2020. Due to the wide range of clinical symptoms of this disease, from asymptomatic to severe and critical forms, it seems that genetic differences among patients, along with other factors (such as gender, age, and underlying diseases), can explain part of the variation in disease symptoms. The TMPRSS2 enzyme plays a vital role in the early stages of the interaction of the SARS-CoV-2 with the host cells by facilitating viral entry. There is a polymorphism in the TMPRSS2 gene, called rs12329760(C to T) as a missense variant, which causes the replacement of valine to methionine in the TMPRSS2 protein at position 160. The present study investigated the association between the TMPRSS2 genotype and the severity of the Coronavirus disease 2019 (COVID-19) in Iranian patients. The TMPRSS2 genotype of 251 COVID-19 patients (151 patients with asymptomatic to mild and 100 patients with severe to critical symptoms) was detected on genomic DNA extracted from patients' peripheral blood via the ARMS-PCR method. Our results showed a significant association between the minor T allele and the severity of the COVID-19 (P-value = 0.043) under the dominant and additive inheritance model. In conclusion, the results of this study showed that the T allele of the rs12329760 in the TMPRSS2 gene is a risk allele for severe form of COVID-19 in Iranian patients in contrast to most previous studies on this variant in European ancestry populations which suggested this variant as a protective allele. Our results reiterate to the ethnic-specific risk alleles and hidden unknown complexity behind the host genetic susceptibility. However, further studies are needed to address the complex mechanisms behind the interaction of the TMPRSS2 protein and the SARS-CoV-2 and the role of rs12329760 polymorphism in determining the disease severity.

Expression inheritance and constraints on cis- and trans-regulatory mutations underlying lotus color variation.

Both cis- and trans-regulatory mutations drive changes in gene expression that underpin plant phenotypic evolution. However, how and why these two major types of regulatory mutations arise in different genes and how gene expression is inherited and associated with these regulatory changes are unclear. Here, by studying allele-specific expression in F1 hybrids of pink-flowered sacred lotus (Nelumbo nucifera) and yellow-flowered American lotus (N. lutea), we reveal the relative contributions of cis- and trans-regulatory changes to interspecific expression rewiring underlying petal color change and how the expression is inherited in hybrids. Although cis-only variants influenced slightly more genes, trans-only variants had a stronger impact on expression differences between species. In F1 hybrids, genes under cis-only and trans-only regulatory effects showed a propensity toward additive and dominant inheritance, respectively, whereas transgressive inheritance was observed in genes carrying both cis- and trans-variants acting in opposite directions. By investigating anthocyanin and carotenoid coexpression networks in petals, we found that the same category of regulatory mutations, particularly trans-variants, tend to rewire hub genes in coexpression modules underpinning flower color differentiation between species; we identified 45 known genes with cis- and trans-regulatory variants significantly correlated with flower coloration, such as ANTHOCYANIN 5-AROMATIC ACYLTRANSFERASE (ACT), GLUTATHIONE S-TRANSFERASE F11 (GSTF11), and LYCOPENE Ε-CYCLASE (LCYE). Notably, the relative abundance of genes in different categories of regulatory divergence was associated with the inferred magnitude of constraints like expression level and breadth. Overall, our study suggests distinct selective constraints and modes of gene expression inheritance among different regulatory mutations underlying lotus petal color divergence.

Association of Polymorphism rs12778366 of the SIRT1 Gene with the Risk of Age-Related Macular Degeneration

The C allele in the additive inheritance model and the TC heterozygous genotype in the codominant and recessive models serve as the genetic factor predisposing to this disease (p<0,001, OR: 2,121, 95% of CI: 1.435-3.133; p<0.001, OR: 2.499, 95% of CI: 1.595-3.915; p<0.001, OR: 2.507, 95% of CI: 1.612-3.900). In addition, the C allele was more common in women with AMD and in AMD patients over 65 years of age, which may be associated with a higher risk of AMD

Sex-dimorphic gene effects on survival outcomes in people with coronary artery disease

BackgroundIschemic coronary heart disease (IHD) is the leading cause of death worldwide. Genetic variation is presumed to be a major factor underlying sex differences for IHD events, including mortality. The purpose of this study was to identify sex-specific candidate genes associated with all-cause mortality among people diagnosed with coronary artery disease (CAD). MethodsWe performed a sex-stratified, exploratory genome-wide association (GWAS) screen using existing data from CAD-diagnosed males (n = 510) and females (n = 174) who reported European ancestry from the Duke Catheterization Genetics biorepository. Extant genotype data for 785,945 autosomal SNPs generated with the Human Omni1-Quad BeadChip (Illumina, CA, USA) were analyzed using an additive inheritance model. We estimated instantaneous risk of all-cause mortality by genotype groups across the 11-year follow-up using Cox multivariate regression, covarying for age and genomic ancestry. ResultsThe top GWAS hits associated with all-cause mortality among people with CAD included 8 SNPs among males and 15 among females (p = 1 × 10−6 or 10−7), adjusted for covariates. Cross-sex comparisons revealed distinct candidate genes. Biologically relevant candidates included rs9932462 (EMP2/TEKT5) and rs2835913 (KCNJ6) among males and rs7217169 (RAP1GAP2), rs8021816 (PRKD1), rs8133010 (PDE9A), and rs12145981 (LPGAT1) among females. ConclusionsWe report 20 sex-specific candidate genes having suggestive association with all-cause mortality among CAD-diagnosed subjects. Findings demonstrate proof of principle for identifying sex-associated genetic factors that may help explain differential mortality risk in people with CAD. Replication and meta-analyses in larger studies with more diverse samples will strengthen future work in this area.

Association of Sirtuin 1 Gene Polymorphisms with the Risk of Coronary Heart Disease in Chinese Han Patients with Type 2 Diabetes Mellitus.

Aims To explore the associations between polymorphisms in SIRT1 and coronary heart disease (CHD) risk in Chinese Han patients with type 2 diabetes (T2D). Methods This case-controlled study enrolled 492 patients with T2D: 297 with CHD and 195 without CHD. Five SIRT1 haplotype-tagging single-nucleotide polymorphisms (rs3818291, rs12242965, rs3818292, rs4746720, and rs16924934) were selected from Chinese Han data in the GRCh37.p13 phase 3 database and genotyped by polymerase chain reaction-restriction fraction length polymorphism or sequencing. Results The rs16924934 G allele was associated with a higher risk of CHD than the A allele (odds ratio (OR) = 1.429; 95% confidence interval (CI) = 1.003–2.037; P = 0.048). Using an additive inheritance model, the rs3818291 G/A genotype was associated with a higher CHD risk than the G/G genotype (OR′ = 1.683; 95%CI = 1.033–2.743; P′ = 0.037 after adjustment for CHD risk factors). Smokers carrying G/A or A/A rs3818291 genotypes had a 3-fold higher CHD risk than those carrying GG (adjusted OR′ = 3.035; P′ = 0.011) and a 2.6-fold higher CHD risk than nonsmokers carrying GG (adjusted OR′ = 2.604; P′ = 0.033). Conclusions Genetic polymorphisms of SIRT1 are associated with the risk of CHD in a Chinese Han population with T2D.

A genome-wide epistatic network underlies the molecular architecture of continuous color variation of body extremities

Deciphering the molecular architecture of coat coloration for a better understanding of the biological mechanisms underlying pigmentation still remains a challenge. We took advantage of a rabbit French experimental population in which both a pattern and a gradient of coloration from white to brown segregated within the himalayan phenotype. The whole experimental design was genotyped using the high density Affymetrix® AxiomOrcun™ SNP Array and phenotyped into 6 different groups ordered from the lighter to the darker. Genome-wide association analyses pinpointed an oligogenic determinism, under recessive and additive inheritance, involving genes already known in melanogenesis (ASIP, KIT, MC1R, TYR), and likely processed pseudogenes linked to ribosomal function, RPS20 and RPS14. We also identified (i) gene-gene interactions through ASIP:MC1R affecting light cream/beige phenotypes while KIT:RPS responsible of dark chocolate/brown colors and (ii) a genome-wide epistatic network involving several others coloration genes such as POT1 or HPS5. Finally, we determined the recessive inheritance of the English spotting phenotype likely involving a copy number variation affecting at least the end of the coding sequence of the KIT gene. Our analyses of coloration as a continuous trait allowed us to go beyond much of the established knowledge through the detection of additional genes and gene-gene interactions that may contribute to the molecular architecture of the coloration phenotype.

Analysis of the redistribution of rs4977574-polymorphic variants of the ANRIL gen in patients with acute coronary syndrome of different sex

Annotation. The aim of the study was to analyze the distribution of rs4977574-polymorphic variants of the ANRIL gene in patients with acute coronary syndrome of different sex. The venous blood of 234 patients with acute coronary syndrome (ACS) and 195 people without cardiac pathology was used for the study. DNA was isolated from whole venous blood using the GeneJET Whole Blood Genomic DNA Purification Mini Kit (ThermoFisher Scientific, USA). rs4977574 ANRIL gene polymorphism was studied by real-time PCR reaction in the presence of TaqMan assay C_31720978_30. Statistical analysis of the study was performed using the SPSS program (version 17.0). A difference was found when comparing the frequencies of genotypes at the polymorphic site rs4977574 of the ANRIL gene in their distribution (p=0,035). According to the results of logistic regression, it was detected that in the recessive (p=0,015) and additive (p=0,012) inheritance models, carriers of the G/G genotype are approximately 2 times more likely to develop ACS than carriers of the A-allele. The reliability of the results was maintained after adjustments for gender, age, B<I, smoking habits, diabetes and stress (p=0,049 for the recessive model; p=0,037 for the additive model). Thus, individuals with the rs4977574 G/G genotype polymorphism of the ANRIL long non-coding RNA gene have a 2 times higher risk of developing ACS than dominant allele carriers. Further research will focus on the association of ANRIL polymorphism with the risk of ACS depending on other risk factors.

Common variants in AGR1 genes contributed to the risk and traits of cirrhotic cardiomyopathy in the Han Chinese population.

Aim: This study aimed to determine the association between polymorphisms of the ARG1 gene and the risk and traits of cirrhotic cardiomyopathy (CCM). Methods: A total of 468 CCM and 1012 cirrhosis patients were enrolled, and 12 single-nucleotide polymorphisms (SNPs) in the ARG1 gene were genotyped. Differences in genotype, allele and haplotype frequencies of the SNPs between the CCM and cirrhosis groups were analyzed by chi-square test. Correlations of the genotypes of SNPs and representative traits of liver and heart function were performed using linear regression analysis. Results: SNPs rs2781666 and rs2781667 were associated with the risk of CCM in both dominant and additive inheritance models. The GG genotype frequency of rs2781666 and CC genotype frequency of rs2781667 were lower in the CCM group than in the cirrhosis group. The G-C haplotype frequency of the block consisting of rs2781666 and rs2781667 was higher and the T-T haplotype frequency was lower in CCM patients than in cirrhosis patients. SNP rs2781666 was associated with the alanine transaminase level, and rs2781667 was associated with the ARG1 level and left atrial diameter. Conclusion: SNPs rs2781666 and rs2781667 in the ARG1 gene were associated with susceptibility to and traits of CCM in the Han Chinese population.

The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population.

The AKR1B1 gene encodes an enzyme that catalyzes the reduction of glucose into sorbitol. Chronic hyperglycemia in patients with diabetes mellitus (DM) leads to increased AKR1B1 affinity for glucose and, consequently, sorbitol accumulation. Elevated sorbitol increases oxidative stress, which is one of the main pathways related to chronic complications of diabetes, including diabetic kidney disease (DKD). Accordingly, some studies have suggested the rs759853 polymorphism in the AKR1B1 gene is associated with DKD; however, findings are still contradictory. The aim was to investigate the association of the rs759853 polymorphism in the AKR1B1 gene and DKD. The sample comprised 695 patients with type 2 DM (T2DM) and DKD (cases) and 310 patients with T2DM of more than 10 years' duration, but no DKD (controls). The polymorphism was genotyped by real-time PCR. Allelic and genotype frequencies of this polymorphism did not differ significantly between groups. However, the A/A genotype was associated with risk for DKD after adjustment for gender, triglycerides, BMI, presence of hypertension and diabetic retinopathy, and duration of DM, under both recessive (P = 0.048) and additive (P = 0.037) inheritance models. Our data suggest an association between the AKR1B1 rs759853A/A genotype and risk for DKD in Brazilians T2DM patients.

Blossom blight resistance in peach: heritability and segregation in progenies from reciprocal crosses

Blossom blight and brown rot caused by Monilinia fructicola is the most important peach disease in Brazil. Genetic resistance is a control strategy that is gaining importance in breeding programs worldwide. This study aimed to identify genotypes with higher levels of blossom blight resistance to estimate the heritability of this character; study the frequency distribution in populations; and test the possibility of maternal effect. Blossom blight susceptibility was tested in reciprocal hybridizations seedlings, as well as their parents. The detached flower technique was used in a randomized complete block design, considering each genotype as a treatment. Flower inoculation was made by spraying a M. fructicola suspension and evaluations were carried out after 72 and 120 hours using a scale of five severity levels. The studied populations presented low phenotypic variability regarding the flower resistance/susceptibility to M. fructicola, being most of them susceptible or very susceptible. Among the tested genotypes, the cultivars Maciel and Cerrito showed less blossom blight susceptibility, transmitting this character to their progenies. Heritability estimates of the blossom blight resistance were medium to low. The low heritability and its distribution in the progenies suggest that the character has additive inheritance, without detecting deviations associated with maternal effects.