The collective behavior of ant groups depends on group genotypic composition

Increasingly, researchers document variation between groups in collective behavior, but the genetic architecture of collective behavior and how the genotypic composition of groups affects collective behavior remains unclear. Social insects are ideal for studying the effects of genetic variation on collective behavior because their societies are defined by social interactions. To explore how the genetic composition of groups affects collective behavior, we constructed groups of pharaoh ants (Monomorium pharaonis) from 33 genetically distinct colonies of known pedigree. The groups consisted of either all workers from the same single colony or workers from two genetically different colonies, and we assayed the exploration and aggression of the groups. We found that collective behavior depended on the specific genotypic combination of group members, i.e. we found evidence for genotype-by-genotype epistasis for both collective behaviors. Furthermore, the observed collective behavior of groups differed from the additive genetic expectations of groups, further demonstrating the importance of genotype-by-genotype effects. Finally, the collective aggression of the groups was negatively correlated with the pairwise relatedness estimates between workers within the group. Overall, this study highlights that specific combinations of genotypes influence group-level phenotypes and the difficulty of predicting group-level phenotypes using only additive models.

Polymorphisms of the GSTT1 and GSTM1 genes in polycystic ovary syndrome

SUMMARY BACKGROUND: This study aimed to investigate the deletion polymorphisms of the genes of the glutathione S-transferase family GSTT1 and GSTM1 in patients with Polycystic Ovarian Syndrome (PCOS), comparing them with a control population. METHODS: Blood was collected from 219 women (110 with PCOS and 109 controls) and genomic DNA was extracted. For the analysis of polymorphisms, the technique used was multiplex PCR. In the statistical analysis, the chi-square test and multiple logistic regression were used. RESULTS: There is no association between the GSTM1 null and GSTT1 null genotypes with PCOS when analyzed separately (P = 0.616 and P = 0.188). The analysis of the combined genotypes showed differences between the groups (P < 0.05), evidencing that the genotypic combination GSTT1 positive and GSTM1 negative is more frequent among patients. In the multivariate analysis, smoking was more frequent in the control group (OR = 0.22; 95% CI - 0.87-0.57; P = 0.002) while the presence of a family history of PCOS (OR = 2, 96; 95% CI - 1.54-5.68; P = 0.001) was more frequent in women with PCOS. CONCLUSIONS: In the studied sample, the deletion polymorphisms of the GSTT1 and GSTM1 genes isolated are not associated with PCOS, but in combination, they may be implicated in the etiology of the condition.

Genética y fútbol: asociación de los polimorfismos genéticos ACTN3 y ACE-I/D en jugadores de fútbol: Revisión literaria (Genetic and soccer: association of ACTN3 and ACE-I/D genetic polymorphisms in soccer players: Literary review)

Se ha comprobado y establecido que alrededor del 66% de los componentes del rendimiento y estado del atleta se explican por los factores hereditarios. Dos de los polimorfismos genéticos mas estudiados con relación al rendimiento deportivo en la ultima década, son el ACTN3 R577X y el ACE I/D. El objetivo de este estudio fue resumir las posibles asociaciones de ambos polimorfismos y el rendimiento en jugadores de fútbol, determinando la combinación alélica y genotípica que más destaca en esta población y, además, observar las relaciones de estos a nivel físico y fisiológico. Para la realización de este estudio se llevaron a cabo dos fases, una primera de revisión bibliográfica y una segunda fase de clasificación y análisis de la información. Los estudios evidencian una mayor influencia de los alelos ACE-D y ACTN-R, y de los genotipos ACE-ID y ACTN-RR. Se observó que los sujetos con estas combinaciones tenían mejores rendimientos es pruebas de velocidad y fuerza. Por otro lado, el polimorfismo ACTN3 está directamente relacionado con las lesiones musculares. En conclusión, se pudo observar una relación entre los polimorfismos genéticos y el rendimiento en jugadores de fútbol. Los componentes genéticos se pueden integrar como un nuevo componente dentro de la caracterización del deporte y como una herramienta dentro de un modelo de identificacción y detección de talentos en el fútbol juvenil. Además, los biomarcadores genéticos podrían ser responsables en un futuro, del estudio del riesgo de lesiones para que se optimice mucho más el rendimiento en el fútbol profesional. Abstract. It has been verified and established that around 66% of the components of the athlete's performance and state are explained by hereditary factors. Two of the most studied genetic polymorphisms in relation to sports performance in the last decade are ACTN3 R577X and ACE I/D. The aim of this study was to summarize the possible associations of both polymorphisms and the performance in soccer players, determining the allelic and genotypic combination that stands out the most in this population and, also, to observe their relationships at the physical and physiological level. In order to complete this study, two phases were carried out, the first one of literature review and, the second one which covered the information classification and analysis. The studies show a greater influence of the ACE-D and ACTN-R alleles, and higher presence of the ACE-ID and ACTN-RR genotypes. Subjects with these combinations were found to perform better on speed and strength tests. On the other hand, the ACTN3 polymorphism is directly related to muscle injuries. In conclusion, a relationship between genetic polymorphisms and performance in soccer players could be observed. Genetic components can be integrated as a new component within the characterization of sport and as a tool within a model of identification and detection of talents in youth soccer. In addition, genetic biomarkers could be responsible, in the future, for the study of the risk of injury so that performance in professional soccer is much more optimized.

Polymorphisms of Pre-miR-499 rs3746444 T/C and Pre-miR-146a rs2910164 C/G in the Autoimmune Diseases of Rheumatoid Arthritis and Systemic Lupus Erythematosus in the West of Iran

Background: The present research is a case-control study to analyze the influence of pre-miRNA-146a rs2910164 and pre-miRNA-499 rs3746444 polymorphisms as candidate susceptibility factors for both rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Methods: Polymorphism in miR146 and miR499 using ARMS-PCR was genotyped on 139 autoimmune disease (AD) patients (89 RA and 50 SLE) referred to Educational Hospitals of Khorramabad, Lorestan Province, west of Iran in 2018–2019 and 237 healthy control subjects. Results: A significant increase in the likelihood of carrying the GC vs. GG of pre-miR146-rs2910164 and T vs C allele of pre-miR499- rs3746444 in patients with RA was found. On the contrary, patients with RA were less likely to carry the TC + CC vs TT genotype and the C vs T allele of pre-miR499- rs374644. In females with the GC vs GG and GC+ CC vs GG genotypes, a significant association was found with the increased risk of RA. Interestingly, the genotypic combination of TC of the pre-miR499-rs374644 with GG of pre-miR146-rs2910164 more strongly decreased the risk of RA. In patients with SLE, no notable associations were found between both pre-miRNA-146a rs2910164 and pre-miRNA-499 rs3746444 with risk of disease. Conclusion: Genetic polymorphisms of miR146 rs2910164 is associated with RA susceptibility especially in females. Interestingly, there is a potential in miR499 to reduce the risk with the protective effect of gene-gene interactions on miR146 in RA disease.

Distribution of polymorphic variants of genes for xenobiotic biotransformation GSTM1, GSTT1 and GSTP1 in populations of native inhabitants and Russians of Eastern Siberia

Актуальность. Изучение полиморфизма генов системы биотрансформации ксенобиотиков, ассоциированных с рядом многофакторных заболеваний - важное направление современных медико-генетических исследований. Цель и задачи - выявить этнические особенности распределения полиморфных вариантов генов GSTM1, GSTT1 и GSTP1 среди бурят, телеутов и русских Восточной Сибири. Материалы и методы. Изучены выборки восточных (N=139) и западных (N=284) бурят, метисов западных бурят с русскими (N=47), телеутов (N=115) и русских Восточной Сибири (N=122). Выявление генотипов GSTM1 0/0 и GSTT1 0/0 проводилось методом мультиплексной полимеразной цепной реакции в режиме реального времени, генотипирование GSTP1 проводили в режиме реального времени с использованием TaqMan-зондов. Результаты. Встречаемость генотипа GSTM1 0/0 среди восточных и западных бурят составляет 37,7% и 57,7% соответственно (51,4% в суммарной выборке бурят), среди русских - 42,6%. Статистически значимо меньшая частота показана у телеутов - 17,4%. Частота GSTТ1 0/0 у восточных и западных бурят равна 40,8% и 27,6% соответственно, у русских статистически значимо меньше - 18%, у телеутов - 24,8%. Для метисов показаны промежуточные значения частот GSTM1 0/0 и GSTТ1 0/0. Аллель GSTP1 1405G встречается среди восточных и западных бурят с частотой 27,7% и 19,2% соответственно, у русских - 31,8%, телеутов - 24,8%. Различие русских с западными бурятами статистически значимо. Частота аллеля GSTP1 2285T среди восточных (4,9%), западных (1,8%) бурят и телеутов (2,2%) меньше, чем среди русских (8,3%). Отличие русских от западных бурят и телеутов, является статистически значимым. Выводы. В суммарной выборке бурят показаны повышенные частоты генотипов GSTM1 0/0 и GSTТ1 0/0, ассоциированых, по данным литературы, с некоторыми многофакторными заболеваниями по сравнению с телеутами и русскими. В обеих выборках бурят статистически значимо повышена частота комбинированного генотипа, приводящего к отсутствию активности ферментов. В то же время у телеутов частота индивидов с генотипической комбинацией GSTM1 +GSTТ1 +, ответственной за нормальную ферментативную активность, статистически значимо выше. Частоты аллелей 1405G и 2285T гена GSTP1 среди бурят и телеутов понижены по сравнению с русскими. Метисация способствует изменению частоты аллелей. Статистически значимые различия в частотах вариантов GSTM1, GSTТ1 и GSTP1 внутри бурятского этноса могут свидетельствовать о его генетической неоднородности. Relevance. The study of the gene polymorphism of the system biotransformation of xenobiotics, which are associated with a number of multifactorial diseases, is an important area of modern medical genetic research. The aim and tasks are to reveal ethnic features in the distribution of polymorphic variants of genes GSTM1, GSTT1 and GSTP1 among Buryats, Teleuts and Russians of Eastern Siberia. Materials and methods. The samples of Eastern (N=139) and Western (N=284) Buryats, métis Western Buryats with Russians (N=47), Teleuts (N=115) and Russians of East Siberia (N=122) are studied. Detection of GSTM1 0/0 and GSTT1 0/0 was carried out through multiplex real-time PCR. Genotyping of GSTP1 was performed using TaqMan real-time PCR. Results. The occurrence of GSTM1 0/0 among Eastern and Western Buryats is 37.7% and 57.7% respectively (51.4% for the total sample of Buryats), among Russians - 42.6%. Significantly lower frequency is shown in Teleuts-17.4%. The frequency of GSTT1 0/0 in Eastern and Western Buryats is 40.8% and 27.6% respectively. It is significantly lower in Russians - 18%, in Teleuts - 24.8%. Mestis shows intermediate frequencies of GSTM1 0/0 and GSTТ1 0/0. GSTP1 1405G is found among Eastern and Western Buryats with 27.7% and 19.2% frequency, respectively, in Russians - 31.8%, Teleuts - 24.8%. The difference of Russians with Western Buryats is statistically significant. The frequencies of GSTP1 2285T among Eastern (4.9%), Western (1.8%) Buryats and Teleuts (2.2%) are lower than frequency among Russians (8.3%). The difference between Russians and Western Buryats with Teleuts is statistically significant. Summary. There are increased frequencies of GSTM1 0/0 and GSTT1 0/0 in the total cohort of Buryats in comparison with Teleuts and Russians. According to the literature data, these genotypes are associated with multi-factorial diseases. In both samples of Buryats, there is a statistically significantly increased frequency of the combined genotype resulting in the absence of enzyme activity. At the same time, there is a statistically significantly increased frequency of individuals with a genotypic combination GSTM1 +GSTT1 + responsible for normal enzymatic activity in the sample of Teleuts. There are reduced frequencies of risk-alleles GSTP1 1405G and 2285T among Buryats and Teleuts in comparison with Russians. Metisation changes the frequency of risk alleles. Significant differences in the frequencies of GSTM1, GSTT1 and GSTP1 within the Buryat ethnic group may indicate its genetic heterogeneity.

GENETIC VARIANTS RELATED TO LIPID METABOLISM AS A RISK FACTOR TO LATE-ONSET ALZHEIMER’S DISEASE

Background: Genetic polymorphisms in genes regulating cholesterol metabolism have been suggested to risk factor of developing Alzheimer’s disease (AD). Objective: to analyze the frequency of polymorphisms apolipoprotein E (APOE-HhaI) and adenosine triphosphate binding cassette transporter 1 (ABCA1-StyI) in patients with late-onset AD. Design: case-control study. Participants: We studied 166 subjects (≥65 years old): Study Group (SG)- 88 patients and Control Group (CG)- 88 without dementia. Setting: The polymorphisms were determined using the polymorphism chain reaction and restriction fragment length polymorphism (PCR-RFLP) methods. It was applied Fisher's exact/chi-square tests (P<0.05). Results: Genotypes with APOE*4 prevailed in SG. The genotypic combination between APOE-HhaI and ABCA1-StyI polymorphisms showed a prevalence of heterozygous genotypes of risk for AD. Conclusion: Although genetic variants for ABCA1-StyI alone does not differentiate patients and controls, the G allele in synergy with APOE*4 allele is highlighted in patients suggesting the influence of ABCA1 in the disease.

Identification of ADRA2A Polymorphisms Related to Shear-Mediated Platelet Function by the PFA-100® System.

[Background] α 2A adrenergic receptor (ADRA2A) on platelets interacts with epinephrine, which has a key role in regulating platelet functions. There is familial clustering of inter-individual variations in the epinephrine-induced platelet aggregation, the molecular basis of which, however, has not been fully understood. In this study, we screened the sequence variations in the transcriptional region of ADRA2A gene and analyzed the relationship between the two common polymorphisms and platelet function using collagen/epinephrine (CEPI) cartridge in the platelet function analyzer (PFA)-100® system. [Methods and Results] Written informed consent was obtained from all study subjects who were genetically unrelated healthy Japanese males (n=255). Of the 255 subjects, an initial screening for the sequence variation(s) in the ADRA2A transcriptional region was performed on 44 subjects enrolled in 2003. Subsequently, relationship between ADRA2A polymorphisms and platelet function was investigated in 211 subjects enrolled between 2004 and 2005. In the screening, we observed 16 single nucleotide polymorphisms (SNPs) including 5 novel variations. We next examined the association between the ADRA2A polymorphisms and epinephrine-mediated platelet function using the PFA-100® system under high shear conditions (5000–6000/sec). According to the pilot study on the 16 SNPs, we focused on 1780A/G and 2732A/G (the first nucleotide of the open reading frame is nt#1, which corresponds to nt#31586326 of the GenBank NT_030059). We measured platelet function, as assessed by closure time (CT) using CEPI cartridge. A longer CEPI-CT indicates lower platelet function in the interaction with collagen and epinephrine. Because the manufacturer’s instructions for the PFA-100® report a mean CEPI-CT value of 132 s, study subjects were divided in two groups: a higher function group with a CEPI-CT &lt; 132 s (n=90) and a lower function group with a CEPI-CT ≥ 132 s (n=121). The frequency of the 1780GG genotype in the lower function group was significantly higher than that in the higher function group (p=0.0478) whereas no association between the CEPI-CT and the 2372A/G polymorphism was observed (p=0.1164). We also observed the effect of the combination of 1780GG+2372AA genotypes for shorter CT (p=0.0319). A multiple logistic regression model to adjust the reported confounding factors (VWF: RCo, platelet count, and hematocrit) revealed an adjusted odds ratio of 2.10 (p=0.0274) for the genotypic combination or 1.82 (p=0.0757) for the 1780A/G alone. Plasma VWF:RCo level was also an independent predictor for CEPI-CT. These observations suggested the enhanced effect of the genotypic combination as compared with the 1780A/G alone. [Conclusion] Of the 16 sequence variations of the transcriptional region of the ADRA2A gene, the combination of the 1780A/G and 2372A/G polymorphism was associated with collagen/epinephrine-mediated platelet function by PFA-100® system.