Per- and Polyfluoroalkyl substances (PFAS) have endocrine-disrupting effects. The ratio of the lengths of the second and fourth digits (2D:4D) is a noninvasive retrospective index of prenatal exposure to sex hormones, and estrogen receptor 1 (ESR1) polymorphisms may contribute to 2D:4D determination. We investigated whether ESR1 polymorphisms modify the effects of prenatal PFAS exposure on 2D:4D. Participants (n = 1024) with complete data in a prospective birth cohort study (the Hokkaido Study) were included, and maternal plasma in the third trimester was used to examine PFAS concentrations. 2D:4D was determined from photocopies of palms of children using Vernier calipers. ESR1 polymorphisms (rs2234693, rs9340799, and rs2077647) were genotyped by TaqMan polymerase chain reaction. PFAS and 2D:4D association with ESR1 polymorphisms was assessed by multiple linear regression adjusted for potential confounding factors. A 10-fold increase in maternal perfluorooctanoic acid (PFOA) concentration was associated with a 1.54% [95% confidence interval (CI): 0.40, 2.68] increase in mean 2D:4D in children with an AA genotype at rs9340799 and a 2.24% (95% CI: 0.57, 3.92) increase in children with an AA genotype at rs2077647. A 10-fold increase in perfluorododecanoic acid (PFDoDA) was associated with a significant increase in 2D:4D in children with the AA genotype [rs9340799, 1.18% (95% CI: 0.02, 2.34); and rs2077647, 1.67% (95% CI: 0.05, 3.28)]. These associations were apparent among males. A significant gene-environment interaction between PFOA or PFDoDA and ESR1 polymorphism was detected. These findings suggest that ESR1 polymorphisms modify the effects of prenatal exposure to PFAS on sex differentiation.
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http://dx.doi.org/10.1016/j.reprotox.2022.02.002 | DOI Listing |
Indian J Psychiatry
October 2024
Department of Biochemistry, JSS Medical College, JSS Academy of Higher Education and Research, Mysore, Karnataka, India.
Background: Premenstrual dysphoric disorder (PMDD) is a condition that affects nearly 3-9% of the women in the reproductive age during the luteal phase of each menstrual cycle characterized by symptoms varying in severity and affecting the quality of life. Earlier research studies conducted have reported independent relationships between PvuII-ESR1-polymorphism and psychological traits in PMDD and risk for cognitive, behavioral, and affective symptoms. However, as the studies are few in number and the results are not consistent, there is a need for our study to link between the PvuII-ESR1gene and PMDD.
View Article and Find Full Text PDFCommun Biol
December 2024
Department of Hematology, Peking University First Hospital, Beijing, China.
Genes (Basel)
October 2024
Facultad de Medicina, Universidad Nacional Autónoma de Mexico, Mexico City 04360, CP, Mexico.
Background: Dementia causes the loss of functional independence, resulting in a decrease in the quality of life of those who suffer from it.
Aims: This study aimed to investigate the interactions influencing susceptibility to the development of dementia through multifactor dimensionality reduction (MDR).
Methods: the study population was made up of 221 cases and 534 controls.
Arch Oral Biol
November 2024
Section of Human Anatomy, Department of Biomedical and Biotechnology Sciences, University of Catania, Catania, Italy. Electronic address:
Objectives: This systematic review aimed to investigate the association between genetic polymorphisms in estrogen receptor alpha (ERα) and beta (ERβ) and the presence and severity of temporomandibular disorders (TMDs).
Materials And Methods: A comprehensive search was conducted in PubMed, Scopus and Web of Science on October 19, 2024, without language or time restrictions. Studies were included if they were cross-sectional, case-control, or cohort designs and reported data on ER-polymorphisms and TMDs, diagnosed using validated criteria.
Cell Genom
October 2024
BGI Research, Shenzhen 518083, China; BGI Research, Wuhan 430074, China; The Innovation Centre of Ministry of Education for Development and Diseases, School of Medicine, South China University of Technology, Guangzhou 510006, China; Shanxi Medical University-BGI Collaborative Center for Future Medicine, Shanxi Medical University, Taiyuan 030001, China; Shenzhen Key Laboratory of Transomics Biotechnologies, BGI Research, Shenzhen 518083, China. Electronic address:
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