Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population

The pathogenesis of endometriosis is unknown, but some evidence supports a genetic predisposition. The purpose of this study was to evaluate the recent literature on the genetic characterization of women affected by endometriosis and to evaluate the influence of polymorphisms of the wingless-type mammalian mouse tumour virus integration site family member 4 (WNT4), vezatin (VEZT), and follicle stimulating hormone beta polypeptide (FSHB) genes, already known to be involved in molecular mechanisms associated with the proliferation and development of endometriotic lesions in the Sardinian population. Materials and Methods: In order to provide a comprehensive and systematic tool for those approaching the genetics of endometriosis, the most cited review, observational, cohort and case-control studies that have evaluated the genetics of endometriosis in the last 20 years were collected. Moreover, 72 women were recruited for a molecular biology analysis of whole-blood samples—41 patients affected by symptomatic endometriosis and 31 controls. The molecular typing of three single nucleotide polymorphisms (SNPs) was evaluated in patients and controls: rs7521902, rs10859871 and rs11031006, mapped respectively in the WNT4, VEZT and FSHB genes. In this work, the frequency of alleles, genotypes and haplotypes of these SNPs in Sardinian women is described. Results: From the initial search, a total of 73 articles were chosen. An analysis of the literature showed that in endometriosis pathogenesis, the contribution of genetics has been well supported by many studies. The frequency of genotypes observed in the groups of the study population of 72 women was globally coherent with the law of the Hardy–Weinberg equilibrium. For the SNP rs11031006 (FSHB), the endometriosis group did not show an increase in genotypic or allelic frequency due to this polymorphism compared to the control group (p = 0.9999, odds ratio (OR) = 0.000, 95% confidence interval (CI), 0.000–15.000 and p = 0.731, OR = 1639, 95% CI, 0.39–683, respectively, for the heterozygous genotype and the polymorphic minor allele). For the SNP rs10859871 (VEZT), we found a significant difference in the frequency of the homozygous genotype in the control group compared to the affected women (p = 0.0111, OR = 0.0602, 95% CI, 0.005–0.501). For the SNP rs7521902 (WNT4), no increase in genotypic or allelic frequency between the two groups was shown (p = 0.3088, OR = 0.4133, 95% CI, 0.10–1.8 and p = 0.3297, OR = 2257, 95% CI, 0.55–914, respectively, for the heterozygous genotype and the polymorphic minor allele). Conclusion: An analysis of recent publications on the genetics of endometriosis showed a discrepancy in the results obtained in different populations. In the Sardinian population, the results obtained do not show a significant association between the investigated variants of the genes and a greater risk of developing endometriosis, although several other studies in the literature have shown the opposite. Anyway, the data underline the importance of evaluating genetic variants in different populations. In fact, in different ethnic groups, it is possible that specific risk alleles could act differently in the pathogenesis of the disease.

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HbA1c levels in individuals heterozygous for hemoglobin variants

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.63.04.341 ◽

2017 ◽

Vol 63 (4) ◽

pp. 341-346

Author(s):

Ricardo Silva Tavares ◽

Fábio Oliveira de Souza ◽

Isabel Cristina Carvalho Medeiros Francescantonio ◽

Weslley Carvalho Soares ◽

Mauro Meira Mesquita

Keyword(s):

Test Group ◽

Exchange Chromatography ◽

Group Method ◽

Control Group ◽

Significant Difference ◽

Hemoglobin Variants ◽

Different Populations ◽

And Control ◽

Two Populations ◽

Hba1c Levels

Summary Objective: To evaluate the levels of glycated hemoglobin (HbA1c) in patients heterozygous for hemoglobin variants and compare the results of this test with those of a control group. Method: This was an experimental study based on the comparison of HbA1c tests in two different populations, with a test group represented by individuals heterozygous for hemoglobin variants (AS and AC) and a control group consisting of people with electrophoretic profile AA. The two populations were required to meet the following inclusion criteria: Normal levels of fasting glucose, hemoglobin, urea and triglycerides, bilirubin > 20 mg/dL and non-use of acetylsalicylic acid. 50 heterozygous subjects and 50 controls were evaluated between August 2013 and May 2014. The comparison of HbA1c levels between heterozygous individuals and control subjects was performed based on standard deviation, mean and G-Test. Results: The study assessed a test group and a control group, both with 39 adults and 11 children. The mean among heterozygous adults for HbA1c was 5.0%, while the control group showed a rate of 5.74%. Heterozygous children presented mean HbA1c at 5.11%, while the controls were at 5.78%. G-Test yielded p=0.93 for children and p=0.89 for adults. Conclusion: Our study evaluated HbA1c using ion exchange chromatography resins, and the patients heterozygous for hemoglobin variants showed no significant difference from the control group.

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Virulence and genetic characterization of six baculovirus strains isolated from different populations of Spodoptera frugiperda (Lepidoptera: Noctuidae)

Archives of Microbiology ◽

10.1007/s00203-021-02722-8 ◽

2022 ◽

Vol 204 (1) ◽

Author(s):

Ingrid Zanella-Saenz ◽

Elisabeth A. Herniou ◽

Jorge E. Ibarra ◽

Ilse Alejandra Huerta-Arredondo ◽

Ma. Cristina Del Rincón-Castro

Keyword(s):

Spodoptera Frugiperda ◽

Genetic Characterization ◽

Different Populations ◽

Lepidoptera Noctuidae

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Genetic characterization of Cryptosporidium spp. and Giardia duodenalis in dogs and cats in Guangdong, China

Parasites & Vectors ◽

10.1186/s13071-019-3822-z ◽

2019 ◽

Vol 12 (1) ◽

Cited By ~ 3

Author(s):

Jiayu Li ◽

Xiaoyu Dan ◽

Kexin Zhu ◽

Na Li ◽

Yaqiong Guo ◽

...

Keyword(s):

Risk Factors ◽

Genetic Characterization ◽

Giardia Duodenalis ◽

Ratio Analysis ◽

Infection Rates ◽

Sequence Analyses ◽

Chi Square ◽

Significant Difference ◽

Chi Square Test

Abstract Background There are only limited number of reports on molecular epidemiology of Cryptosporidium spp. and Giardia duodenalis in dogs and cats in China. This study was conducted to assess the infection rates, genetic identity, and public health potential of these parasites in dogs and cats in Guangdong, China. Methods PCR and sequence analyses were used to identify and genotype Cryptosporidium spp. and G. duodenalis in fecal samples from 641 dogs and 418 cats in Guangdong. Chi-square test and odds ratio analysis were used to compare the occurrence rates of these pathogens and identify risk factors for infection. Results The overall infection rates of Cryptosporidium spp. and G. duodenalis were 6.9% (44/641) and 9.4% (60/641) in dogs, and 6.2% (26/418) and 3.6% (15/418) in cats. Purebred cats (12.4%; χ2 = 5.110, OR = 2.8, P = 0.024) and dogs (10.8%; χ2 = 5.597, OR = 4.8, P = 0.018) were more likely to be infected by Cryptosporidium spp. and G. duodenalis, respectively. Dogs (12.0%; χ2 = 7.589, OR = 2.6, P = 0.006) and cats (13.6%; χ2 = 8.235, OR = 3.5, P = 0.004) under 6 months had significantly higher infection rates of Cryptosporidium spp. than older animals. Household (13.9%; χ2 = 10.279, OR = 2.6, P = 0.008) and pet shop dogs (11.0%; χ2 = 7.182, OR = 2.0, P = 0.048) had higher occurrence of Cryptosporidium spp., as was the case for G. duodenalis occurrence in experimental dogs (13.4%; χ2 = 9.223, OR = 1.9, P = 0.017). Cryptosporidium canis (n = 42), C. muris (n = 1) and Cryptosporidium rat genotype IV (n = 1) were identified in dogs, while C. felis (n = 21), C. parvum (n = 3), C. muris (n = 1) and Cryptosporidium rat genotype IV (n = 1) were identified in cats. In contrast, the canine-specific assemblages C (n = 27) and D (n = 26) and the feline-specific assemblage F (n = 14) were almost exclusively the only genotypes of G. duodenalis in dogs and cats, respectively. There was no significant difference in infection rates of Cryptosporidium spp. and G. duodenalis between diarrheal and non-diarrheal pets. Conclusions While domestic pets in Guangdong are infected with zoonotic Cryptosporidium species, they are mainly infected with host-specific G. duodenalis genotypes. Risk factors for infections differ between Cryptosporidium spp. and G. duodenalis and between dogs and cats.

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Physiological and genetic characterization of the Gly40Ser mutation in the glucagon receptor gene in the Sardinian population

Diabetologia ◽

10.1007/s001250050647 ◽

1997 ◽

Vol 40 (1) ◽

pp. 89-94 ◽

Cited By ~ 15

Author(s):

G. Tonolo ◽

M. G. Melis ◽

M. Ciccarese ◽

G. Secchi ◽

M. M. Atzeni ◽

...

Keyword(s):

Genetic Characterization ◽

Receptor Gene ◽

Glucagon Receptor ◽

Sardinian Population ◽

Glucagon Receptor Gene

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Genetic diversity of Blastocystis in kindergarten children in southern Xinjiang, China

Parasites & Vectors ◽

10.1186/s13071-020-3890-0 ◽

2020 ◽

Vol 13 (1) ◽

Cited By ~ 5

Author(s):

Meng Qi ◽

Zilin Wei ◽

Ying Zhang ◽

Qiyuan Zhang ◽

Juanfeng Li ◽

...

Keyword(s):

Ribosomal Rna ◽

Genetic Characterization ◽

Intestinal Parasites ◽

Small Subunit ◽

Kindergarten Children ◽

Chain Reaction ◽

Significant Difference ◽

Polymerase Chain ◽

Southern Xinjiang

Abstract Background Blastocystis is one of the most common intestinal parasites in humans and various animals worldwide. Few studies are available regarding the genetic characterization of Blastocystis infections in humans in China. Methods In the present study, 609 fecal samples were collected from two- to six-year-old kindergarten children in southern Xinjiang and were examined by polymerase chain reaction (PCR). Results The infection rate of Blastocystis was 14.3% (87/609); no significant difference was observed among counties and between sexes. Blastocystis subtypes ST1 (n = 38), ST2 (n = 8), and ST3 (n = 41) were identified by sequence analysis of the small subunit ribosomal RNA gene. Genetic polymorphisms were observed at the intra-subtype level, including seven variations for ST1 (ST1A to ST1G), four for ST2 (ST2A to ST2D), and two for ST3 (ST3A and ST3B); with ST1F and ST2B being new variations. Conclusions ST1 and ST3 are the two common Blastocystis subtypes in the study area. More extensive studies in both humans and animals in different regions are needed to better characterize the transmission of Blastocystis.

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Identification and characterization of antibodies against human Hsp60 at pregnancy

HEALTH OF WOMAN ◽

10.15574/hw.2016.114.75 ◽

2016 ◽

pp. 75-78

Author(s):

M. Makarenko ◽

◽

D. Govsieiev ◽

R. Vorona ◽

A. Tsisarenko ◽

...

Keyword(s):

Pregnant Women ◽

Main Group ◽

Control Group ◽

Significant Difference ◽

Positive Serum ◽

Healthy Control ◽

Shock Proteins ◽

Identification And Characterization ◽

Human Hsp60

Heat shock proteins (HSPs) or molecular chaperones were originally described as members of the cell response to different types of stress (infection, the influence of heavy metals, ischemia, hypoxia, amino acid starvation, psycho-emotional stress, hormonal stress, etc.). Hsp60 is one of the first proteins that are synthesized during embryogenesis. Hsp60 is necessary for the development of the embryo. The objective: was the identification and characterization of anti-Hsp60 autoantibodies in pregnant women to assess the prospects for a possible use as additional capabilities for the prediction of pregnancy progress. Patients and methods. Was a group of 170 pregnant women. 20 pregnant women were clinically healthy (control group) and 150 pregnant women had complicated anamnesis (main group). The level of IgG anti-Hsp60 antibodies in the serum was determined using immunoassay (ІFA). Immunoreactivity was determined by Western blot (immunoblotting). Results. Using the ІFA method, anti-Hsp60 positive serum was detected in 7.7% of pregnant women from the control group and in 14.0% of pregnant with complicated anamnesis. A statistically significant difference between the level of anti-Hsp60 autoantibody (on average) in pregnant women of the main group and the control group was not identified (0.177±0.118 vs. 0.134±0.097 units of optical density, p>0.05). Also, it was determined the frequency of detection of pathologies in pregnant women which have an anti-Hsp60 positive serum, compared with pregnant women which have an anti-Hsp60 negative serum. Conclusions. Our results suggest that in relation to the anti-Hsp60 antibody studies as an additional test, in particular, the forecast of progress of pregnancy, joint use ІFA and Western blotting is more appropriate. Key words: pregnancy, Hsp60, anti-Hsp60 autoantibodies.

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P1811GENETIC POLYMORPHISMS IN STAT4, VEGF2578 AND PTPN22 GENES IN CHILDREN WITH GLOMERULOPATHIES

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfaa142.p1811 ◽

2020 ◽

Vol 35 (Supplement_3) ◽

Author(s):

Ina Kazyra ◽

Alexandr Sukala ◽

Hanna Bialkevich ◽

Anna Krylova-Alefirenko ◽

Natalia Tur ◽

...

Keyword(s):

Lupus Erythematosus ◽

Polymorphic Locus ◽

Pediatric Nephrology ◽

Study Groups ◽

Minor Allele ◽

Statistical Testing ◽

Control Group ◽

Healthy Children ◽

Glomerular Diseases ◽

Significant Difference

Abstract Background and Aims Glomerular diseases (GD) often have genetic predisposition, especially those autoimmune or immune complex-mediated. Our aim was to assess an impact of genetic polymorphism in STAT4 rs7574865 and rs3821236, VEGF rs699947 and PTPN22 rs2476601 on the risk of development of primary (PG) and secondary (SG) glomerulopathies in children. Method We enrolled 81 child with GD (m:f 33/48) and 335 healthy controls (m:f 184/151). Patients of the study group were arranged into two groups: 1st - with PG (38 children aged 3-17 yrs, 13±3,45, m:f 22/16) and 2nd - with SG (43 children aged 7-17 yrs, 13±3,59, m:f 11/32). 1st group included 35 patients with hereditary nephritis, 2 with IgA nephropathy, 1 – FSGS. 2nd group included 10 patients with ANCA associated vasculitis, 11 with IgA vasculitis, 22 with systemic lupus erythematosus (SLE). These patients were identified and monitored at the National Center for Pediatric Nephrology. Control group (CG) was matched with the study groups for age and sex and included 335 healthy children (m:f 184/151, age 2-17 yrs, 14,28±2,56). We analyzed DNA by polymerase chain reaction for identification of genotypes. Results The frequency of genotypes and allels for STAT4 rs 7574865 was found to be GG 55,26% in 1st, 46,51% in 2nd versus (vs) 62,09% in CG; GT 39,47%, 41,86% vs 32,24%; TT 5,26%, 11,63% vs 5,67%; for minor allele T 25,00%, 32,60% vs 21,79%, respectively. For STAT4 rs3821236: GG found in 65,79% in 1st, 55,81% in 2nd vs 65,07% in CG; GA genotype in 26,32%, 41,86% and 30,15%; AA genotype in 7,89%, 2,33% and 4,78%; minor allele A in 21,05%, 23,26% and 19,85%, respectively. For VEGF2578 rs 699947: AA 28,95% in 1st, 30,23% in 2nd vs 20,30% in CG; AC 44,74% and 51,16% vs 57,31%; CC 26,32% and 18,60% vs 22,39%; minor allele C 48,68%, 44,19% vs 51,04% in 1st and 2nd vs CG, respectively. For PTPN22: CC 68,42% in 1st, 59,46% in 2nd vs 72,95% in CG; CT 28,95%, 35,14%, 24,59%; TT 2,63%, 5,41% and 2,46%; minor allele T in 17,11%, 22,97% vs 14,75% in 1st,2nd and CG, respectively. The distribution of genotypes observed was tested with the Hardy-Weinberg Equilibrium. There were no differences found in rates of polymorphic genotypes in CG and patients with GD. For PTPN22 rs 2476601 and VEGF2578 rs6999467 no statistically significant difference between children of 1st, 2nd and CG was observed. We found the difference between patients with GD and healthy children (HC) for minor allele T of STAT4 rs7574865 (OR [95%CI]=1,73 [1,06-2,82], p=0,03), which was most prominent for female patients with SG (OR [95%CI]=2,31 [1,3-4,12], p=0,005). The development of SG was associated with the presence of GT+TT genotype (vs GG genotype) of STAT4 rs7574865 (OR=4,92; 95% CI [2,62-9,23]; p<0,001). Statistical testing showed significant differences between healthy female controls and SLE females for minor allele T of STAT4 rs7574865 (OR [95%CI]=2,14 [1,07-4,27], p=0,04) and GT+TT genotypes vs GG genotype of STAT4 rs7574865 (OR=2,54; 95%CI[1,00-6,42]; p<0,05). The analysis of genotypes/alleles for polymorphic locus rs3821236 of STAT4 revealed significant association of GA genotype (OR[95%CI]=2,55 [1,17-5,55], p=0,021), as well as of the sum of genotypes with at least one minor allele (GA+AA) (OR[95%CI]=3,51 [1,59-7,76], p=0,002) with the development of SG in girls. An association of the presence of the minor allele A of STAT4 rs3822136 with the likelihood of SG development in females was observed (OR[95%CI]=2,69 [1,5-4,83], p=0,001). Conclusion Minor allele T and GT+TT genotypes of STAT4 rs7574865 is associated with the risk of SG development in children and especially with the risk of SLE development in girls. Minor allele A and GA+AA genotypes of the STAT4 rs3822136 are associated with the predisposition to SG in girls. Minor allele T and GT+TT genotypes of the PTPN22 rs 2476601 are observed to be more frequent in both groups of GD and especially in girls, though failed to be statistically significant (p>0,05).

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Characterization of Pro- and Anti-Inflammatory Tissue Factors in Rosacea: A Pilot study

Cosmetics ◽

10.3390/cosmetics7040082 ◽

2020 ◽

Vol 7 (4) ◽

pp. 82

Author(s):

Elizabeta Lohova ◽

Mara Pilmane ◽

Mara Rone-Kupfere ◽

Janis Kisis

Keyword(s):

Connective Tissue ◽

Control Group ◽

Strong Positive Correlation ◽

Facial Skin ◽

Significant Difference ◽

Tissue Factors ◽

Affected Tissue ◽

Anti Inflammatory ◽

Inflammatory Tissue

Rosacea is a chronic inflammatory skin disease mainly affecting the facial skin. Our aim was to determine the appearance of pro- and anti- inflammatory cytokines in rosacea-affected facial tissue. Materials and Methods: Rosacea tissue were obtained from eight patients (aged 35 to 50 years). The control group (CG) included four facial skin samples (49 to 70 years). Routine staining and immunohistochemistry for IL-1, IL-10, LL-37, HBD-2, and HBD-4 proceeded. Results: Inflammation was observed in all the rosacea samples. A statistically significant difference was seen between epithelial HBD-2 positive cells in comparison to the control. There was a strong positive correlation between HBD-4 in the epithelium and HBD-4 in the connective tissue, IL-10 in the epithelium and IL-1 in the connective tissue, and IL-1 in the epithelium and IL-10 in the connective tissue. Conclusion: Increased levels of IL-10 and decreased levels of IL-1 show the balance between anti- and pro-inflammatory tissue responses. A significant amount of HBD-2 in the epithelium proves its important role in the local immune response of rosacea-affected tissue. The last effect seems to be intensified by the elevated level of LL-37 in the epithelium.

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THE ASSOCIATION OF LYS198ASN -POLYMORPHISM OF ENDOTHELIN-1 GENE (EDN1) WITH DEVELOPMENT OF ARTERIAL HYPERTENSION IN UKRAINIAN POPULATION

Wiadomości Lekarskie ◽

10.36740/wlek201904112 ◽

2019 ◽

Vol 72 (4) ◽

pp. 568-574

Author(s):

Ylia O. Smiianova ◽

Ludmyla N. Pristupa ◽

Viktoriia Yu. Harbuzova ◽

Yelizaveta A. Harbuzova

Keyword(s):

Arterial Hypertension ◽

Venous Blood ◽

Additive Model ◽

Binary Logistic Regression ◽

Polymerase Chain Reaction Method ◽

Minor Allele ◽

Control Group ◽

Endothelin 1 ◽

Different Populations ◽

Genetically Determined

Introduction: Arterial hypertension is a multifactorial disease developing under the influence of environmental factors and is genetically determined. One of the genetic markers that is of primary importance in the disease development is endothelin-1 gene (EDN1). Today the association between the polymorphic variants of this gene, particularly Lys198Asn-polymorphism, and the development of arterial hypertension in different populations of the world has been proved. The aim: To study the association between the Lys198Asn-polymorphism of the endothelin-1 gene and the development of arterial hypertension in Ukrainian population. Materials and methods: The genotypes were determined by the polymerase chain reaction method, followed by the analysis of the restriction fragment length (PCR-RFLP) in venous blood of 160 patients with arterial hypertension and 110 people in the control group. The statistical analysis was performed using SPSS-17.0. Results: As a result of genotyping, it was found that in the group of patients with arterial hypertension the ratio of homozygote of the major allele (Lys/Lys), heterozygote (Lys/Asn) and homozygote of the minor allele (Asn/Asn) was 74 (46.3%), 73 ( 45.6%), 13 (8.1%), while in control - 66 (60.0%), 41 (37.3%), 3 (2.7%) respectively. The distribution of genotypes in the experimental groups was statistically significant (χ2 = 6.66; P = 0.036). By the method of binary logistic regression within the dominant and additive model of inheritance, a reliableassociation between the genotype of the Lys198Asn-polymorphism of the ET-1 gene and the development of arterial hypertension was established. It was shown that carriers of minor allele (Lys/Asn+Asn/Asn) have a risk of arterial hypertension 1.7 (95 % CI = 1.066 – 2.851), and homozygotes Asn/Asn 3.9 (95 % CI = 1.016 – 9.566)times higher than people with Lys/Lys genotype. In addition, smoking patients with Lys/Asn and Asn/Asn- genotypes have a risk of arterial hypertension 2.6 (95% of SI = 1.224-5.488), and homozygotes of the minor allele (Asn/Asn) 7.3(95% of SI = 1.295-41.639) times higher than the Lys/Lys homozygotes. Conclusions: Lys198Asn-polymorphism of the endothelin-1 gene is associated with the development of arterial hypertension in Ukrainian population. Carriers of minor allele (Lys/Asn+Asn/Asn) have a risk of arterial hypertension 1.7, and homozygotes Asn/Asn 3.9 times higher than people with Lys/Lys genotype.

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Morphometric similarities and differences between tree genotype of Pramenka sheep from central Bosnia

Biotechnology in Animal Husbandry ◽

10.2298/bah1703291v ◽

2017 ◽

Vol 33 (3) ◽

pp. 291-298 ◽

Cited By ~ 2

Author(s):

Bozo Vazic ◽

Biljana Rogic ◽

Milanka Drinic ◽

Nebojsa Savic

Keyword(s):

Body Length ◽

Genetic Characterization ◽

Significant Difference ◽

Similarities And Differences ◽

Morphometric Characterization ◽

Morphometric Trait

Morphometric characterization of three strains: Dub, Privor and Kupres was done in order to obtain the genetic characterization of autochthonous sheep strains in Central Bosnia. Total of 205 ewes and rams was measured in order to determine similarities and differences between them. The eight, most important, morphometric trait were determined: wither height, rump height, body length, shoulder width, chest depth, hip width, chest perimeter and shin perimeter. Ewes of Dub Pramenka in relation to Privor and Kupres strains had pronounced morphometric measures, and established differences were statistically significant and highly significant. Statistically significant differences in all measures was observed between rams, expect for hip width. The obtained results show a significant difference in morphometric measures of three autochthonous Pramenka strains from Central Bosnia.

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