PMID- 26930261 OWN - NLM STAT- MEDLINE DCOM- 20170728 LR - 20210816 IS - 1873-3360 (Electronic) IS - 0306-4530 (Linking) VI - 68 DP - 2016 Jun TI - Further investigations of the relation between polymorphisms in sex steroid related genes and autistic-like traits. PG - 1-5 LID - S0306-4530(16)30050-6 [pii] LID - 10.1016/j.psyneuen.2016.02.020 [doi] AB - Autism spectrum disorders (ASDs) are more prevalent in boys than in girls, indicating that high levels of testosterone during early development may be a risk factor. Evidence for this hypothesis comes from studies showing associations between fetal testosterone levels, as well as indirect measures of prenatal androgenization, and ASDs and autistic-like traits (ALTs). In a recent study we reported associations between ALTs and single nucleotide polymorphisms (SNPs) in the genes encoding estrogen receptor 1 (ESR1), steroid-5-alpha-reductase, type 2 (SRD5A2) and sex hormone-binding globulin (SHBG) in a subset (n=1771) from the Child and Adolescent Twin Study in Sweden (CATSS). The aim of the present study was to try to replicate these findings in an additional, larger, sample of individuals from the CATSS (n=10,654), as well as to analyze additional SNPs of functional importance in SHBG and SRD5A2. No associations between the previously associated SNPs in the genes ESR1 and SRD5A2 and ALTs could be seen in the large replication sample. Still, our results show that two non-linked SNPs (rs6259 and rs9901675) at the SHBG gene locus might be of importance for language impairment problems in boys. The results of the present study do not point toward a major role for the investigated SNPs in the genes ESR1 and SRD5A2 in ALTs, but a possible influence of genetic variation in SHBG, especially for language impairment problems in boys, cannot be ruled out. CI - Copyright (c) 2016 Elsevier Ltd. All rights reserved. FAU - Zettergren, Anna AU - Zettergren A AD - Institute of Neuroscience and Physiology, Department of Pharmacology, University of Gothenburg, Sweden; Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, University of Gothenburg, Sweden. Electronic address: anna.zettergren@neuro.gu.se. FAU - Karlsson, Sara AU - Karlsson S AD - Institute of Neuroscience and Physiology, Department of Pharmacology, University of Gothenburg, Sweden. FAU - Hovey, Daniel AU - Hovey D AD - Institute of Neuroscience and Physiology, Department of Pharmacology, University of Gothenburg, Sweden. FAU - Jonsson, Lina AU - Jonsson L AD - Institute of Neuroscience and Physiology, Department of Pharmacology, University of Gothenburg, Sweden. FAU - Melke, Jonas AU - Melke J AD - Institute of Neuroscience and Physiology, Department of Pharmacology, University of Gothenburg, Sweden. FAU - Anckarsater, Henrik AU - Anckarsater H AD - Institute of Neuroscience and Physiology, Centre of Ethics, Law and Mental Health (CELAM), University of Gothenburg, Sweden. FAU - Lichtenstein, Paul AU - Lichtenstein P AD - Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden. FAU - Lundstrom, Sebastian AU - Lundstrom S AD - Institute of Neuroscience and Physiology, Centre of Ethics, Law and Mental Health (CELAM), University of Gothenburg, Sweden; Institute of Neuroscience and Physiology, Gillberg Neuropsychiatry Centre, University of Gothenburg, Sweden. FAU - Westberg, Lars AU - Westberg L AD - Institute of Neuroscience and Physiology, Department of Pharmacology, University of Gothenburg, Sweden. LA - eng PT - Journal Article DEP - 20160223 PL - England TA - Psychoneuroendocrinology JT - Psychoneuroendocrinology JID - 7612148 RN - 0 (ESR1 protein, human) RN - 0 (Estrogen Receptor alpha) RN - 0 (Membrane Proteins) RN - 0 (Receptors, Cell Surface) RN - 0 (sex hormone-binding globulin receptor) RN - EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase) RN - EC 1.3.99.5 (SRD5A2 protein, human) SB - IM MH - 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/*genetics/metabolism MH - Adolescent MH - Autism Spectrum Disorder/*genetics/metabolism MH - Child MH - Estrogen Receptor alpha/*genetics/metabolism MH - Female MH - Genetic Association Studies MH - Humans MH - Male MH - Membrane Proteins/*genetics/metabolism MH - Polymorphism, Single Nucleotide MH - Receptors, Cell Surface/*genetics/metabolism OTO - NOTNLM OT - Association OT - Autism spectrum disorders OT - Autistic-like traits OT - Gene OT - Polymorphism OT - Sex steroids EDAT- 2016/03/02 06:00 MHDA- 2017/07/29 06:00 CRDT- 2016/03/02 06:00 PHST- 2015/11/10 00:00 [received] PHST- 2016/02/19 00:00 [revised] PHST- 2016/02/19 00:00 [accepted] PHST- 2016/03/02 06:00 [entrez] PHST- 2016/03/02 06:00 [pubmed] PHST- 2017/07/29 06:00 [medline] AID - S0306-4530(16)30050-6 [pii] AID - 10.1016/j.psyneuen.2016.02.020 [doi] PST - ppublish SO - Psychoneuroendocrinology. 2016 Jun;68:1-5. doi: 10.1016/j.psyneuen.2016.02.020. Epub 2016 Feb 23.