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Human social interactions ensure recognition and approval from others, both in offline and online environments. This study applies a model from behavioral genetics on Instagram sociability to explore the impact of individual development on behavior on social networks. We hypothesize that sociable attitudes on Instagram resulted from an interaction between serotonin transporter gene alleles and the individual's social relationship with caregivers. We assess the environmental and genetic components of 57 Instagram users. The self-report questionnaire Parental Bonding Instrument is adopted to determine the quality of parental bonding. The number of posts, followed users ("followings"), and followers are collected from Instagram as measures of online social activity. Additionally, the ratio between the number of followers and followings ("Social Desirability Index") was calculated to estimate the asymmetry of each user's social network. Finally, buccal mucosa cell samples were acquired, and the polymorphism rs25531 (T/T homozygotes vs. C-carriers) within the serotonin transporter gene was examined. In the preliminary analysis, we identified a gender effect on the number of followings. In addition, we specifically found a gene-environment interaction on the standardized Instagram "Social Desirability Index" in line with our predictions. Users with the genotype more sensitive to environmental influences (T/T homozygotes) showed a higher Instagram "Social Desirability Index" than nonsensitive ones (C-carriers) when they experienced positive maternal care. This result may contribute to understanding online social behavior from a gene*environment perspective. Nanyang Technological University Published version This research was supported by grants from the NAP SUG to GE (M4081597, 2015–2021) and from the Italian Ministry of University and Research (Excellence Department Grant awarded to the Department of Psychology and Cognitive Science, University of Trento, Italy) (I.C. and G.E.).

Oxytocin is a primary neuropeptide which coordinates affiliative behavior. Previous researchers pointed to the association between genetic vulnerability on Oxytocin Receptor Gene (OXTR) and environmental factors (e.g., social relationships) to comprehend social behavior. Although an extensive knowledge of in-person social interactions has been obtained, little is known about online sociability. A gene-environment perspective is adopted to examine how OXTR and adult attachment moderate Instagram behavior. The genetic factors within the regions OXTR/rs53576 (A/A homozygotes vs G-carriers) and OXTR/rs2254298 (G/G homozygotes vs A-carriers) were assessed. The Experience in Close Relationships-Revised (ECR-R) questionnaire was used to collect participants' (N = 57, 16 males) attachment with a partner. The number of posts, followed people (“followings”) and followers were obtained from Instagram, and the Social Desirability Index (SDI) was calculated as the ratio of followers to followings. Interaction effects between OXTR groups and ECR-R scores on the number of posts and SDI were hypothesized. Results showed an effect of rs53576 on the number of Instagram followings. Specifically, people with A/A OXTR/rs53576 genotype had more followings than G-carriers independent of the anxiety or avoidance felt towards their partner. These preliminary results offer insights into future investigations on social media behavior., Gene*Environment; Adult attachment; Close relationship; Oxytocin Receptor Gene; rs53576; rs2254298; Online behavior; Social media; Social network; Instagram

Social networking sites have determined radical changes in human life, demanding investigations on online socialization mechanisms. The knowledge acquired on in-person sociability could guide researchers to consider both environmental and genetic features as candidates of online socialization. Here, we explored the impact of the quality of adult attachment and the genetic properties of the Serotonin Transporter Gene (5-HTTLPR) on Instagram social behavior. Experiences in Close Relationships-Revised questionnaire was adopted to assess 57 Instagram users’ attachment pattern in close relationships with partners. Genotypes from the 5-HTTLPR/rs25531 region were extracted from the users’ buccal mucosa and analyzed. Users’ Instagram social behavior was examined from four indexes: number of posts, number of followed users (“followings”) and number of followers, and the Social Desirability Index calculated from the followers to followings ratio. Although no interaction between rs25531 and ECR-R dimensions was found, an association between avoidance in close relationships and Instagram number of followings emerged. Post hoc analyses revealed adult avoidance from the partner predicts the Instagram number of followings with good evidence. Moreover, users reporting high avoidance levels displayed fewer followings than users who reported low levels of avoidance. This research provides a window into the psychobiological understanding of online socialization on Instagram. Ministry of Education (MOE) Nanyang Technological University Published version This research was supported by grants from the NAP SUG (M4081597, 2015-2021) and the Singapore Ministry of Education ACR Tier 1 (RG149/16 and RT10/19) to G.E.

Leukodystrophies are a diverse group of genetic disorders that selectively involve the white matter of the brain and are a frequent cause of young-onset cognitive impairment. Genetic diagnosis is challenging. Data on the utility of incorporating brain magnetic resonance imaging (MRI) diagnostic algorithms with next-generation sequencing (NGS) for diagnosis in a real-life clinical setting is limited. We performed sequencing using a custom-designed panel of 200 neurodegeneration-associated genes on 45 patients with young-onset cognitive impairment with leukodystrophy, and classified them based on van der Knaap et al.'s MRI diagnostic algorithm. We found that 20/45 (44.4%) patients carried pathogenic variants or novel variants predicted to be pathogenic (one in CSF1R, two in HTRA1 and 17 in NOTCH3). All patients with an established genetic diagnosis had an MRI brain pattern consistent with a specific genetic condition/s. More than half (19/37, 51.4%) of patients with MRI changes consistent with vascular cognitive impairment secondary to small vessel disease (VCI-SVD) had pathogenic variants, including all patients with pathogenic NOTCH3 (17/19, 89.5%) and HTRA1 variants (2/19, 11.5%). Amongst patients harboring pathogenic NOTCH3 variants, 13/17 (76.5%) carried the p.R544C variant seen predominantly in East Asians. Anterior temporal white matter involvement was seen only in patients with pathogenic NOTCH3 variants (6/17, 35.3%). Overall, we demonstrated a high diagnostic utility incorporating a targeted neurodegeneration gene panel and MRI-based diagnostic algorithms in young-onset cognitive impairment patients with leukodystrophy. National Medical Research Council (NMRC) National Research Foundation (NRF) Published version This study was funded by Singapore's National Medical Research Council [AN by the Clinician-Scientist New Investigator Grant (CNIG/1165/2017) and Transition Award (MOH-TA18may-0003), JF by Singapore National Research Foundation Fellowship (NRF-NRFF2016-03), NK by the Clinician-Scientist Individual Research Grant (CIRG/1416/2015), E-KT by the Singapore Translational Research (STaR) Investigator award (NMRC/STaR/014/2013) and Parkinson's disease Large Collaborative Grant – Open Fund (LCG002 - SPARK II)], and Singapore Health Services [AN by the SingHealth Precision Medicine Institute (PRISM) grant (SHF/PRISM008/2016)].

Adult social interactions are regulated by the mental representation of self and behavioural expectation from the others. Specifically, early interactions with parents affect social experience throughout a lifetime, as a repeated and prolonged perception of different levels of care, independence or control influences the modulation of emotional regulatory processes. Although environmental factors, like early parent-child bonding, affect adult significant social interactions, intrinsic biological predispositions could play a pivotal role in modulating the degrees of susceptibility to the external social context, especially in a sensitive temporal frame like childhood [1]. Among the multiple genetic variants, features related to parenting assets and recalled attachment could be associated with a region of the serotonin transporter gene, namely 5HTT rs25531 [2].

Human faces are relevant stimuli that capture attention, provide information about group belonging and elicit automatic prepared responses. While early experiences with other race faces plays a critical role in acquiring face expertise, the exact mechanism through which it exerts its influence is still to be elucidated. In particular, the influence of genetic factors and the role of a multi-ethnic context has not been explored. The aim of this study was to investigate how caregiving experiences with nannies and oxytocin receptor gene (OXTR) genotypes interact in regulating other-race categorisation mechanisms in adults. Information about single nucleotide polymorphisms of the OXTR (rs53576) and experiences with own- and other-race nannies was collected from 89 Singaporean adults, who completed a visual categorization task of face stimuli (Chinese or Javanese). Participants were grouped into A/A homozygotes and G-carriers and assigned a score to account for the type of nanny experience. A General Linear Model was used to estimate the effect of nanny experience, genetic group and their interaction on categorization reaction time. A significant main effect of the nanny experience (pHighlightsEarly nanny experience interacts with oxytocin receptor genotype in affecting the speed of face categorisation.Individuals with other-race nanny experience show faster categorisation response times. Gene-environment interactions are present in face categorisation.

The other-race face recognition deficit is a robust finding in the literature on facial processing in humans. Although previous models of the other-race effect have proposed the role of experience and interracial contact, genetics have not been examined in the context of other-race face recognition. The aim of this study was to investigate the gene-environment interaction between early caregiving experience and oxytocin receptor gene genotypes with other-race face recognition in adults. Eighty-nineSingaporean adults gave information on their early caregiving experiences with own- and other-race caregivers and genotyping of their oxytocin receptor gene (rs53576) was also conducted. Participants completed a visual categorization task where they identified the race of a face (Chinese or Javanese) and their categorization response time was measured. A significant main effect of early caregiving experience was found where reaction time was significantly slower in individuals with no other-racecaregiving experience than individuals with other-race caregiving experience. In addition, only non-G carriers of rs53576 without other-race caregiving experience had a significantly slower reaction time compared to non-G carriers with other-race caregivers. This was not observed in G carriers, indicating a gene-environment interaction. These results highlight the role of early interracial contact on other-race face recognition and its interaction with genetics. Future studies can employ a longitudinaldesign for further insight into this gene-environment interaction across development.

In both physical and online environments, human social interactions can represent a means to gain recognition and approval from others. While there is considerable evidence about the interaction between genetics and the environment on social development, studies adopting the same framework to investigate online social interactions are lacking. The present work applies a model from behavioural genetics on Instagram sociability to explore the impact of individual development on social media platforms' behaviour. We hypothesized that social attitudes on Instagram resulted from an interaction between serotonin transporter gene alleles and the individual's remembrance of the interaction with caregivers. We assessed the environmental and genetic components of 57 Instagram users, adopting the Parental Bonding Instrument to determine the perceived parental care and overprotection. The number of posts followed by users ("followings") and followers were collected from participants' Instagram profiles as online social activity indexes. Additionally, the ratio between the number of followers and followings ("Social Desirability Index") was calculated to estimate each user's social network's asymmetry. Finally, information on the polymorphism rs25531 (T/T homozygotes vs C-carriers) within the serotonin transporter gene was extracted from participants' buccal mucosa cell samples. In line with the predictions, we found a gene-environment interaction on the Social Desirability Index": users with the genotype more sensitive to environmental influences (T/T homozygotes) showed a higher Instagram "Social Desirability Index" than less sensitive ones (C-carriers) when positive maternal care was experienced. This result may contribute to the understanding of online social behaviour from a gene*environment perspective.

Importance Large-scale genome-wide association studies in the European population have identified 90 risk variants associated with Parkinson disease (PD); however, there are limited studies in the largest population worldwide (ie, Asian). Objectives To identify novel genome-wide significant loci for PD in Asian individuals and to compare genetic risk between Asian and European cohorts. Design Setting, and Participants Genome-wide association data generated from PD cases and controls in an Asian population (ie, Singapore/Malaysia, Hong Kong, Taiwan, mainland China, and South Korea) were collected from January 1, 2016, to December 31, 2018, as part of an ongoing study. Results were combined with inverse variance meta-analysis, and replication of top loci in European and Japanese samples was performed. Discovery samples of 31 575 individuals passing quality control of 35 994 recruited were used, with a greater than 90% participation rate. A replication cohort of 1 926 361 European-ancestry and 3509 Japanese samples was analyzed. Parkinson disease was diagnosed using UK Parkinson’s Disease Society Brain Bank Criteria. Main Outcomes and Measures Genotypes of common variants, association with disease status, and polygenic risk scores. Results Of 31 575 samples identified, 6724 PD cases (mean [SD] age, 64.3 [10] years; age at onset, 58.8 [10.6] years; 3472 [53.2%] men) and 24 851 controls (age, 59.4 [11.4] years; 11 030 [45.0%] men) were analyzed in the discovery study. Eleven genome-wide significant loci were identified; 2 of these loci were novel (SV2CandWBSCR17) and 9 were previously found in Europeans. Replication in European-ancestry and Japanese samples showed robust association forSV2C(rs246814; odds ratio, 1.16; 95% CI, 1.11-1.21;P = 1.17 × 10−10in meta-analysis of discovery and replication samples) but showed potential genetic heterogeneity atWBSCR17(rs9638616;I2=67.1%;P = 3.40 × 10−3for hetereogeneity). Polygenic risk score models including variants at these 11 loci were associated with a significant improvement in area under the curve over the model based on 78 European loci alone (63.1% vs 60.2%;P = 6.81 × 10−12). Conclusions and Relevance This study identified 2 apparently novel gene loci and found 9 previously identified European loci to be associated with PD in this large, meta–genome-wide association study in a worldwide population of Asian individuals and reports similarities and differences in genetic risk factors between Asian and European individuals in the risk for PD. These findings may lead to improved stratification of Asian patients and controls based on polygenic risk scores. Our findings have potential academic and clinical importance for risk stratification and precision medicine in Asia.

Underrepresentation of Asian genomes has hindered population and medical genetics research on Asians, leading to population disparities in precision medicine. By whole-genome sequencing of 4,810 Singapore Chinese, Malays, and Indians, we found 98.3 million SNPs and small insertions or deletions, over half of which are novel. Population structure analysis demonstrated great representation of Asian genetic diversity by three ethnicities in Singapore and revealed a Malay-related novel ancestry component. Furthermore, demographic inference suggested that Malays split from Chinese ∼24,800 years ago and experienced significant admixture with East Asians ∼1,700 years ago, coinciding with the Austronesian expansion. Additionally, we identified 20 candidate loci for natural selection, 14 of which harbored robust associations with complex traits and diseases. Finally, we show that our data can substantially improve genotype imputation in diverse Asian and Oceanian populations. These results highlight the value of our data as a resource to empower human genetics discovery across broad geographic regions. Agency for Science, Technology and Research (A*STAR) National Medical Research Council (NMRC) National Research Foundation (NRF) Accepted version We acknowledge H.M. Kang, S. Das, A. Tan, F. Zhang, J. Terhorst, P.-R. Loh, and G. Hellenthal for helpful discussions and support from all participants and clinical research coordinators of the contributing cohorts and studies: the TTSH Healthy Control Workgroup, the SEED cohort, the Asian Sudden Cardiac Death in Heart Failure Study, the Singapore Heart Failure Outcomes and Phenotypes (SHOP) cohort, the Asian neTwork for Translational Research and Cardiovascular Trials (ATTRaCT), the Parkinson’s Disease Study, the Peranakan Genome Study, the Platinum Asian Genomes Project, the Bariatric Surgery Study, the National Heart Centre Singapore Biobank and SingHEART cohorts, and the GUSTO and S-PRESTO study groups. This study was supported by Singapore’s A*STAR (core funding and IAF-PP H17/01/a0/007), BMRC (SPF2014/001, SPF2013/002, SPF2014/003, SPF2014/004, and SPF2014/005), NMRC (CIRG/1371/2013, CIRG/1417/2015, CIRG/1488/ 2018, CSA-SI/0012/2017, CG/017/2013, CG/M006/2017_NHCS, TCR/013- NNI/2014, STaR/0011/2012, STaR2013/001, STaR/014/2013, STaR/0026/ 2015, TCR/006-NUHS/2013, TCR/012-NUHS/2014, TCR/004-NUS/2008, TCR/012-NUHS/2014, and center grants 2010-13 and 2013-2017), NRF (NRFF2016-03), National University of Singapore, SingHealth and DukeNUS, and Alexandra Health small innovative grant SIGII/15203 and funding from Huazhong University of Science and Technology, the Tanoto Foundation, the Lee Foundation, the Boston Scientific Investigator Sponsored Research Program and Bayer, the NSF (DEB-1753489), and the Alfred P. Sloan Foundation. The computation was partially performed on resources of the National Supercomputing Centre, Singapore (https://www.nscc.sg).