المؤلفون: Savelieva, Kateryna, Hintsanen, Mirka, Dobewall, Henrik, Jokela, Markus, Pulkki-Råback, Laura, Elovainio, Marko, Seppälä, Ilkka, Lehtimäki, Tero, Raitakari, Olli, Keltikangas-Järvinen, Liisa

المساهمون: Department of Public Health, Department of Psychology and Logopedics, Psychosocial factors and health

مصطلحات موضوعية: AFFILIATION, Acceptance, BEHAVIOR, CD38 gene, DIFFERENTIAL-SUSCEPTIBILITY, ENVIRONMENT INTERACTION RESEARCH, Gene-environment (GxE) interaction, INDIVIDUAL-DIFFERENCES, Intergenerational transmission, Oxytocin receptor gene (OXTR), Parent-child relationship qualities, RISK, Warmth, 515 Psychology

الوصف: Parenting qualities are known to transmit across generations, but less is known about genetic processes that may modify how strongly parenting quality carries across generations. We examined in prospective data whether oxytocinergic genes of offspring moderate the intergenerational transmission of warm and accepting parent-child relationship qualities. The sample comprised 1167 Finnish parents (G2, 62% female) and their mothers (G1). At the study baseline, G1 mothers (Mage = 38) reported parent-child relationship qualities towards G2 children (age range 3-18). After 28-34 years, G2 offspring reported parent-child relationship qualities towards their own children using the same questionnaire. A cumulative genetic score was computed for G2 by summing up previously identified four alleles associated with non-optimal parenting or social impairments across OXTR (rs1042778, rs2254298, rs53576) and CD38 (rs3796863) genes. Results indicated no interaction effects of G2 cumulative genetic score on the transmission of parent-child relationship qualities. Among single polymorphisms in OXTR, the interaction effects of rs53576 and rs1042778 were found. G1 maternal emotional warmth was associated with higher G2 emotional warmth among G2 participants with the OXTR rs53576 AA/AG genotype, but not among those with the GG genotype. G1 maternal acceptance was associated with higher G2 acceptance among those G2 participants with the OXTR rs1042778 GG/GT genotype, but not among those with the TT genotype. Oxytocinergic genes may influence sensitivity to quality of parent-child relationship, although this needs replication in future studies. ; Peer reviewed

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: Savelieva , K , Hintsanen , M , Dobewall , H , Jokela , M , Pulkki-Råback , L , Elovainio , M , Seppälä , I , Lehtimäki , T , Raitakari , O & Keltikangas-Järvinen , L 2019 , ' The role of oxytocinergic genes in the intergenerational transmission of parent-child relationship qualities ' , Hormones and Behavior , vol. 114 , 104540 . https://doi.org/10.1016/j.yhbeh.2019.06.004Test; ORCID: /0000-0002-7977-3852/work/63004861; ORCID: /0000-0003-0117-0012/work/63005002; ORCID: /0000-0002-4662-9707/work/63005582; e1a5d57f-e1d8-4b72-a023-abcf1cb39711; http://hdl.handle.net/10138/317807Test; 000486136600006

الإتاحة: http://hdl.handle.net/10138/317807Test

المؤلفون: Antonelli, A, Tuomi, Tiinamaija, Nannipieri, M, Fallahi, P, Nesti, C, Okamoto, H, Groop, Leif, Ferrannini, E

المصدر: Diabetologia. 45(9):1298-1306

مصطلحات موضوعية: insulin secretion, CD38 polymorphisms, missense mutation, Type I diabetes mellitus, Type II diabetes mellitus, GAD antibodies, CD38 antibodies, CD38 gene, LADA, HLA, Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Medical and Health Sciences, Clinical Medicine, Endocrinology and Diabetes

الوصف: Aims/hypothesis. Autoantibodies against CD38 have been found in some patients with Type II (non-insulin-dependent) diabetes mellitus and have been shown to stimulate insulin secretion by cultured human islets. We tested whether this new form of autoimmunity, (i) overlaps with anti-GAD autoimmunity, (ii) identifies an insulin-deficient phenotype, (iii) is under the influence of genetic factors. Methods. We screened 496 adults by immuno-blot analysis in the Botnia Study (298 with Type II and 98 with Type I (insulin-dependent) diabetes mellitus, 100 non-diabetic control subjects). Results. CD38-autoantibodies were found in 8.4% of Type II diabetic patients (p<0.003 vs 0% of control subjects), particularly in anti-GAD positive (14% vs 6% of anti-GAD negative, p=0.0004). CD38ab were also found in 4% of Type I diabetic patients; in the whole study group, 59% of anti-CD38 positive had DQB1 *02 compared with 38% of anti-CD38 negative (p=0.04). On the OGTT, beta-cell function (as the ratio of insulin-to-glucose areas) was impaired (p=0.02) only in association with anti-GAD positivity (3.2 +/- 3.1 U/mol, mean +/- SD) but not in anti-CD38 positive patients (5.6 +/- 2.9) as compared with patients free of autoimmunity (4.5 +/- 4.6, p=NS). In 44 Type II diabetic patients (22 negative and 22 positive for anti-CD38), no mutations were detected in any of the 8 exons, 5' end of intron 1 or the 5' and 3' untranslated regions of the CD38 gene. The previously described missense mutation (Arg140Trp) in exon 3 was not found in this cohort. There was no association between the PvUII polymorphism and clinical phenotype. Conclusion. Anti-CD38 autoimmunity identifies a clinical phenotype similar to non-autoimmune Type II diabetes, with relative preserved beta-cell function and weak genetic influence.

الوصول الحر: https://lup.lub.lu.se/record/325737Test
http://dx.doi.org/10.1007/s00125-002-0886-6Test

المؤلفون: Grover S., Sreelatha A.A.K., Pihlstrom L., Domenighetti C., Schulte C., Sugier P.-E., Radivojkov-Blagojevic M., Lichtner P., Mohamed O., Portugal B., Landoulsi Z., May P., Bobbili D., Edsall C., Bartusch F., Hanussek M., Krüger J., Hernandez D.G., Blauwendraat C., Mellick G.D., Zimprich A., Pirker W., Tan M., Rogaeva E., Lang A., Koks S., Taba P., Lesage S., Brice A., Corvol J.-C., Chartier-Harlin M.-C., Mutez E., Brockmann K., Deutschländer A.B., Hadjigeorgiou G.M., Dardiotis E., Stefanis L., Simitsi A.M., Valente E.M., Petrucci S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Burbulla L.F., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S.J., Kim Y.J., Pavelka L., Van De Warrenburg B.P.C., Bloem B.R., Singleton A.B., Aasly J., Toft M., Guedes L.C., Ferreira J.J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N.L., Ran C., Belin A.C., Puschmann A., Hellberg C., Clarke C.E., Morrison K.E., Krainc D., Farrer M.J., Kruger R., Elbaz A., Gasser T., Sharma M.

المصدر: Neurology ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85136019610&doi=10.1212%2fWNL.0000000000200699&partnerID=40&md5=7766b3a0615ef70c6f2a5cd8fcdabd2aTest

مصطلحات موضوعية: ADP ribosyl cyclase/cyclic ADP ribose hydrolase 1, adult, Article, BST1 gene, caudate nucleus, CD38 gene, chromosome 12, chromosome 4, chromosome 7, chromosome 8, controlled study, correlation analysis, expression quantitative trait locus, female, gene, gene expression, gene frequency, gene identification, gene linkage disequilibrium, genetic association, genome-wide association study, genotype, genotype phenotype correlation, heritability, human, human tissue, KNH3 gene, major clinical study, male, neuropathology

الوصف: Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication cohorts. The previous largest genome-wide association studies (GWAS) identified SNCA and TMEM175 loci on chromosome (Chr) 4 with a significant influence on the AAO of PD; these have not been independently replicated. This study aims to conduct a meta-analysis of GWAS of PD AAO and validate previously observed findings in worldwide populations. Methods A meta-analysis was performed on PD AAO GWAS of 30 populations of predominantly European ancestry from the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. This was followed by combining our study with the largest publicly available European ancestry dataset compiled by the International Parkinson Disease Genomics Consortium (IPDGC). Results The COURAGE-PD Consortium included a cohort of 8,535 patients with PD (91.9%: Europeans and 9.1%: East Asians). The average AAO in the COURAGE-PD dataset was 58.9 years (SD = 11.6), with an underrepresentation of females (40.2%). The heritability estimate for AAO in COURAGE-PD was 0.083 (SE = 0.057). None of the loci reached genome-wide significance (p < 5 × 10-8). Nevertheless, the COURAGE-PD dataset confirmed the role of the previously published TMEM175 variant as a genetic determinant of the AAO of PD with Bonferroni-corrected nominal levels of significance (p < 0.025): (rs34311866: β(SE)COURAGE = 0.477(0.203), pCOURAGE = 0.0185). The subsequent meta-analysis of COURAGE-PD and IPDGC datasets (Ntotal = 25,950) led to the identification of 2 genome-wide significant association signals on Chr 4, including the previously reported SNCA locus (rs983361: β(SE)COURAGE+IPDGC = 0.720(0.122), pCOURAGE+IPDGC = 3.13 × 10-9) and a novel BST1 locus (rs4698412: β(SE)COURAGE+IPDGC = -0.526(0.096), pCOURAGE+IPDGC = 4.41 × 10-8). Discussion ...

العلاقة: http://hdl.handle.net/11615/73726Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000200699Test
http://hdl.handle.net/11615/73726Test

المؤلفون: А. Mokrane, А.D. Perenkov, D.V. Novikov, V.V. Novikov

مصطلحات موضوعية: CD38 gene, pathogenesis, genetic polymorphism, colon cancer, SNP, CD38 expression, carcinogenesis

الوصف: Given the recent findings on the importance of CD38 signaling in the pathogenesis of colon cancer. We hypothesized that single nucleotide polymorphisms (SNP) in the CD38 gene may be related to colon cancer risk. CD38 has a genetic polymorphism, characterized by a C>G variation in the regulatory region of intron 1. The working hypothesis is that the presence of different alleles in colon cancer patients accounts for some of the clinical heterogeneity. CD38 is considered a marker of prognosis and as an indicator the activation and proliferation of cells. We hypothesized that single nucleotide polymorphisms (SNP) in the CD38 gene may be related to colon cancer risk. We evaluated one potentially functional CD38 SNP, intronic rs6449182 in two cases patients and controls. Genotyping was done using PCR-based assays in a total of 93 patients with colon cancer and 100 controls. We found that frequencies of variant allele (rs6449182 G) were significantly higher in colon cancer. Logistic regression analysis revealed an association between colon cancer and genotypes: rs6449182 CC [odds ratio (OR), 0.57; 95% confidence interval (95% CI), 0.32 – 1.01], rs6449182 CG (OR, 1.47; 95% CI, 0.83 – 2.60), and rs6449182 GG (OR, 2.26; 95% CI, 0.66 – 7.77). We observed that rs6449182 G carriers had more advanced clinical stage (P = 0.04). In conclusion, our data show that CD38 SNP may affect CD38 expression and contribute to the increased risk of colon cancer carcinogenesis.

وصف الملف: text/html

الإتاحة: http://cyberleninka.ru/article/n/genetic-variants-of-snps-rs6449182Test-cd38-gene-correlation-with-age-sex-and-tumor-stage-in-patients-with-colorectal-cancer
http://cyberleninka.ru/article_covers/16936792.pngTest

المؤلفون: Savelieva, Kateryna, Hintsanen, Mirka, Dobewall, Henrik, Jokela, Markus, Pulkki-Råback, Laura, Elovainio, Marko, Seppälä, Ilkka, Lehtimäki, Terho, Raitakari, Olli, Keltikangas-Järvinen, Liisa

المساهمون: Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Yhteiskuntatieteiden tiedekunta - Faculty of Social Sciences, Tampere University

مصطلحات موضوعية: Acceptance, CD38 gene, Gene-environment (GxE) interaction, Intergenerational transmission, Oxytocin receptor gene (OXTR), Parent–child relationship qualities, Warmth, Biolääketieteet - Biomedicine, Terveystiede - Health care science

وصف الملف: fulltext

العلاقة: 104540; Hormones and Behavior; 114; https://trepo.tuni.fi/handle/10024/117305Test; URN:NBN:fi:tuni-201910043710

الإتاحة: https://trepo.tuni.fi/handle/10024/117305Test

المؤلفون: Liisa Keltikangas-Järvinen, Henrik Dobewall, Terho Lehtimäki, Laura Pulkki-Råback, Ilkka Seppälä, Mirka Hintsanen, Markus Jokela, Olli T. Raitakari, Kateryna Savelieva, Marko Elovainio

المساهمون: Department of Public Health, Department of Psychology and Logopedics, Psychosocial factors and health, Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Yhteiskuntatieteiden tiedekunta - Faculty of Social Sciences, Tampere University

المصدر: Hormones and behavior. 114

مصطلحات موضوعية: Male, Parents, Future studies, Inheritance Patterns, Oxytocin, Developmental psychology, Cohort Studies, Behavioral Neuroscience, 0302 clinical medicine, Endocrinology, Genotype, Terveystiede - Health care science, Prospective Studies, Parent-Child Relations, Child, RISK, Membrane Glycoproteins, Parenting, Middle Aged, Receptors, Oxytocin, Child, Preschool, Female, Psychology, BEHAVIOR, Adult, Adolescent, Biolääketieteet - Biomedicine, Offspring, 515 Psychology, AFFILIATION, Mothers, Intergenerational transmission, Parent–child relationship qualities, CD38 gene, Interaction, INDIVIDUAL-DIFFERENCES, Gene-environment (GxE) interaction, 03 medical and health sciences, Parent-child relationship qualities, ENVIRONMENT INTERACTION RESEARCH, Humans, Allele, Gene, Alleles, Polymorphism, Genetic, Endocrine and Autonomic Systems, DIFFERENTIAL-SUSCEPTIBILITY, Oxytocin receptor, ADP-ribosyl Cyclase 1, 030227 psychiatry, Acceptance, Gene-Environment Interaction, Oxytocin receptor gene (OXTR), Warmth, 030217 neurology & neurosurgery

الوصف: Parenting qualities are known to transmit across generations, but less is known about genetic processes that may modify how strongly parenting quality carries across generations. We examined in prospective data whether oxytocinergic genes of offspring moderate the intergenerational transmission of warm and accepting parent-child relationship qualities. The sample comprised 1167 Finnish parents (G2, 62% female) and their mothers (G1). At the study baseline, G1 mothers (Mage = 38) reported parent-child relationship qualities towards G2 children (age range 3-18). After 28-34 years, G2 offspring reported parent-child relationship qualities towards their own children using the same questionnaire. A cumulative genetic score was computed for G2 by summing up previously identified four alleles associated with non-optimal parenting or social impairments across OXTR (rs1042778, rs2254298, rs53576) and CD38 (rs3796863) genes. Results indicated no interaction effects of G2 cumulative genetic score on the transmission of parent-child relationship qualities. Among single polymorphisms in OXTR, the interaction effects of rs53576 and rs1042778 were found. G1 maternal emotional warmth was associated with higher G2 emotional warmth among G2 participants with the OXTR rs53576 AA/AG genotype, but not among those with the GG genotype. G1 maternal acceptance was associated with higher G2 acceptance among those G2 participants with the OXTR rs1042778 GG/GT genotype, but not among those with the TT genotype. Oxytocinergic genes may influence sensitivity to quality of parent-child relationship, although this needs replication in future studies.

وصف الملف: fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d128538a554c777cf529220dacfe9f1Test
https://pubmed.ncbi.nlm.nih.gov/31202819Test

المؤلفون: Mokrane, А., Perenkov, А.D., Novikov, D.V., Novikov, V.V.

المصدر: Opera Medica et Physiologica.

مصطلحات موضوعية: CD38 gene, pathogenesis, genetic polymorphism, colon cancer, SNP, CD38 expression, carcinogenesis

الوصف: Given the recent findings on the importance of CD38 signaling in the pathogenesis of colon cancer. We hypothesized that single nucleotide polymorphisms (SNP) in the CD38 gene may be related to colon cancer risk. CD38 has a genetic polymorphism, characterized by a C>G variation in the regulatory region of intron 1. The working hypothesis is that the presence of different alleles in colon cancer patients accounts for some of the clinical heterogeneity. CD38 is considered a marker of prognosis and as an indicator the activation and proliferation of cells. We hypothesized that single nucleotide polymorphisms (SNP) in the CD38 gene may be related to colon cancer risk. We evaluated one potentially functional CD38 SNP, intronic rs6449182 in two cases patients and controls. Genotyping was done using PCR-based assays in a total of 93 patients with colon cancer and 100 controls. We found that frequencies of variant allele (rs6449182 G) were significantly higher in colon cancer. Logistic regression analysis revealed an association between colon cancer and genotypes: rs6449182 CC [odds ratio (OR), 0.57; 95% confidence interval (95% CI), 0.32 – 1.01], rs6449182 CG (OR, 1.47; 95% CI, 0.83 – 2.60), and rs6449182 GG (OR, 2.26; 95% CI, 0.66 – 7.77). We observed that rs6449182 G carriers had more advanced clinical stage (P = 0.04). In conclusion, our data show that CD38 SNP may affect CD38 expression and contribute to the increased risk of colon cancer carcinogenesis.

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a6e95e13502d9c1fc0c2f60853e5e2bTest
http://cyberleninka.ru/article_covers/16936792.pngTest