đột biến vốn có của người Hàn Quốc

Người Hàn Quốc cố hữu đột biến có liên quan đến rối loạn nhân cách, bệnh tâm thần và não người.

Tính cách con người (tức là tính khí và tính cách) là một đặc điểm phức tạp liên quan đến sức khỏe tâm thần, chịu ảnh hưởng của các yếu tố di truyền và môi trường. Bất chấp những nỗ lực đã được thực hiện trong suốt nhiều thập kỷ qua, nền tảng di truyền của nó chỉ mới bắt đầu được xác định.

đánh giá từ dữ liệu rõ ràng Sự thật 1, người Hàn Quốc có thể là "những người mất trí". Nhưng chế giễu sang một bên, danh sách dưới đây là một phần của danh sách SNV-1, vốn có đối với người Hàn Quốc theo bài báo về di truyền học dân số sau đây.

Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population
Wenqian Zhang et al.
Published: 21 October 2014 in BMC Bioinformatics
additional_file_7 xlsx


Xin lưu ý rằng bài báo trên được viết bởi FDA (Cục quản lý Thực phẩm và Dược phẩm Hoa Kỳ)

Bài báo trên không được gửi cho tạp chí khoa học nổi tiếng Nature hoặc Science, v.v., nhưng bài báo này đã được trình bày tại một hội nghị học thuật được tổ chức ở Oakland, Hoa Kỳ vào tháng 3 năm 2014.

Các tác giả của bài báo trên như sau, và tất cả các tác giả, ngoại trừ Heng Luo là nhà nghiên cứu hoặc kỹ sư lập trình tại FDA. (Khi bài báo trên được phát hành, Heng Luo là một sinh viên tốt nghiệp tại Đại học Arkansas, nhưng hiện là nhà nghiên cứu của FDA)

Wenqian Zhang(FDA)
Joe Meehan(FDA, Ph.D.)
Zhenqiang Su(FDA)
Hui Wen Ng(FDA)
Mao Shu(FDA)
Heng Luo(graduate student )
Weigong Ge(FDA)
Roger Perkins
Weida Tong(FDA, Ph.D.)
Huixiao Hong(FDA, Ph.D.)

[trích dẫn từ tài liệu di truyền quần thể trên]
Nội dung hoàn toàn do tác giả chịu trách nhiệm và không nhất thiết đại diện cho quan điểm chính thức của Cục Quản lý Thực phẩm và Dược phẩm, Trung tâm Quốc gia về Nguồn lực Nghiên cứu hoặc Viện Y tế Quốc gia.

Tiết lộ
Các phát hiện và kết luận trong bài báo này chưa được Cục Quản lý Thực phẩm và Dược phẩm Hoa Kỳ (FDA) chính thức phổ biến và không nên được hiểu là đại diện cho quyết định hoặc chính sách của FDA.

Tuyên bố
Chi phí xuất bản của bài báo này được tài trợ bởi chính phủ Hoa Kỳ. vì vậy, nội dung bên dưới là tiếng anh

Tôi rất tiếc, dịch máy hiệu quả là không thể cho các từ y học. vì vậy, nội dung bên dưới là tiếng anh.
Không thể nghi ngờ rằng tuyệt đại đa số người Hàn Quốc vốn có đột biến gen có liên quan đến các bệnh tâm thần, rối loạn nhân cách và nhân cách con người



From SNV-1 to Mental disorder/ Mental traits

1. Please don't misunderstand that the list below is all correct, because other papers may shows another or opposite result. In the event that you know the paper which deny the results, please inform me

2. Please ponder the list below which indicate anomalous results, and if you are Koreans and have a quibble of the list below, inform me with evidence or papers name without slander. To my regret, genetics papers below show "insane Koreans".

1.it is beyond all doubts that a great majority of SNV-1 over 350 have relation to mental deseases, personality disorders and human personality, and in other words, Koreans are completely differs from to The Chinese and The Japanese in mental traits, despite of geographic proximity.

2.Needless to say, It is important not to forget that papers of genetic pathology include a lot of controversial and disputable results in many cases, So please remember the presumption that the results presented in the above papers are not necessarily correct. It is therefore essential that multiple papers indicate a genetic association between mental disease and gene.

3.There are no winners of all sixty-three international scientific prizes in South Korea, despite of high education revel ratio and large population size (detailed data is here), and this fact completely coincides with the above list.

PRIM2 and snoU13 gene

It is certain that insomnia which related to major depressive disorder spread over South Korea, and korean type's insomnia would be caused by PRIM2 and snoU13 gene.

CSMD1,CNTNAP2,OR4C5 and others

CSMD1 gene
# of SNVs in SNV-1=1786
# of nsSNVs in SNV-1=1
# of SNVs in SNV-35=1
# of SNVs in nsSNV-35=0

OR4C5 gene
# of SNVs in SNV-1=155
# of nsSNVs in SNV-1=21
# of SNVs in SNV-35=49
# of SNVs in nsSNV-35=11
from additional_file_7 xlsx

1.There are abundant evidence in the above papers, and there can be no dispute about the facts that Korean type schizophrenia is in Koreans. However, to my knowledge, there are no papers which indicate symptoms peculiar to Koreans of schizophrenia.

2.Please don't misunderstand that the prevalence rates of schizophrenia are high among Koreans compared with other ethnic populations, it is rather the opposite. Schizophrenia prevalence rates of Koreans are low as well as The Japanese and The Chinese compared with White and Blacks.

PDE4DIP and ZNF717 gene

These gene might be the crucial gene which determines the personality(i.e., temperament and character) of Koreans.

PDE4DIP gene
# of SNVs in SNV-1=1374
# of nsSNVs in SNV-1=138
# of SNVs in SNV-35=14
# of SNVs in nsSNV-35=3


ZNF717 gene
# of SNVs in SNV-1=856
# of nsSNVs in SNV-1=28
# of SNVs in SNV-35=3
# of SNVs in nsSNV-35=0
from additional_file_7 xlsx



From intelligence related gene list to SNV-1(=Korean only variants)

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
Jeanne E Savage et al.
Published online 2018 Nature genetics

To my knowledge, the above paper is the most comprehensive paper of genes related to intelligence and Supplementary Materials include a gene list of intelligence.

result of compared with the above paper and SNV-1(=Korean only variants)

compare.xlsx
ratio of SNV-1 in intelligence related gene list
compare2.xlsx
ratio of SNV-1/ns in intelligence related gene list
compare2.xlsx
validation of SNV-1 ratio

Surprisingly, almost all SNV-1 are associated with intelligence, concretely speaking, 496 genes(97.8%) of 507 genes associated with intelligence specified by the above paper are SNV-1.
(SNV-1=Korean only variants=SNVs detected in at least one of the 35 Korean individuals but not included in either HapMap or 1KGP)

The fact that there are no winners of all sixty-three international scientific prizes in South Korea and the above facts completely coincide, and Koreans are very unique or anomalous in intelligence. Maybe, you would think that intelligence of Koreans not at all different to intelligence of The Chinese and The Japanese. However, there is no doubt that genetics papers clearly indicate that Koreans are completely different to The Chinese and The Japanese in intelligence.

Why such a strange phenomena occur in spite of geographic proximity? As a matter of fact, bottleneck effect in the 13th century at Korean Peninsula occurred by Genghis Khan and the son's invasion.
I infer that the population of the Korean Peninsula declined by 85% to 90% in the 13th century.(Please read this article, using machine translation tools. Chinese researchers estimate that the population of neighboring Liaoning Province, China, also declined by 90% during the same period.)

Maybe, the following phrase shall spread over the world within next three decades.

You are insane like Koreans.

---

paper[1]
Rare coding variants in 10 genes confer substantial risk for schizophrenia.
Singh TJ et al.
Nature. April 6, 2022

paper[2]
an intriguing therapeutic target for neurodevelopmental disorders
Liang Shi & Clare M. Bergson
Nature Published: 16 June 2020

paper[3]
An interaction network of mental disorder proteins in neural stem cells
M J Moen et al,
Nature Published: 04 April 2017

paper[4]
Association between SNPs and gene expression in multiple regions of the human brain
S Kim et al,
Nature Published: 08 May 2012

paper[5]
Identification of pleiotropy at the gene level between psychiatric disorders and related traits
Tatiana Polushina et al,
Nature Published: 29 July 2021

[cited from the above paper]
Here, we aimed to identify genetic overlaps at the gene level between 7 mental disorders (schizophrenia, autism spectrum disorder, major depressive disorder, anorexia nervosa, ADHD, bipolar disorder and anxiety), 8 brain morphometric traits, 2 cognitive traits (educational attainment and general cognitive function) and 9 personality traits (subjective well-being, depressive symptoms, neuroticism, extraversion, openness to experience, agreeableness and conscientiousness, children’s aggressive behaviour, loneliness) based on publicly available GWASs.

paper[6]
A Genomewide Linkage Scan of Cocaine Dependence and Major Depressive Episode in Two Populations
Bao-Zhu Yang et ai.
Nature Published: 17 August 2011

paper[7]
Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations
M Kataoka et al.
Nature Published: 24 May 2016

paper[8]
Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS
M Mattheisen
Nature Published: 13 May 2014

paper[9]
The Schizophrenia-Associated Gene, CSMD1,Encodes a Brain-Specific Complement Inhibitor
Matthew L Baum
Harvard Libraly

paper[10]
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
J I Friedman et al.
Nature Published: 24 July 2007

paper[11]
The molecular genetics of schizophrenia: new findings promise new insights M J Owen et al.
Nature Published: 28 October 2003

paper[12]
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3
Siobhan Connolly et al.
Nature Published: 23 November 2016


paper[13]
Convergence of evidence from a methylome-wide CpG-SNP association study and GWAS of major depressive disorder
Karolina A. Aberg et al.
Nature Published: 22 August 2018

[cited from the above paper]
ROBO2 (roundabout, axon guidance receptor, homolog 2) is critical for the maintenance of inhibitory synapses in the adult ventral tegmental area, a brain region important for the production of dopamine[41], and has been implicated in schizophrenia[42],[43],[44] and bipolar depression[45].

paper[14]
Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy
Hongyan Diao et al.
Published online 2018 Nov 16

paper[15]
Association of limbic system-associated membrane protein (LSAMP) to male completed suicide
Anne Must et al.
Published: 23 April 2008

[cited from above paper]
According to the results of the current study, there might be a chance that variations in LSAMP gene play a role in pathoaetiology of suicidal behaviour.

paper[16]
The role of cadherin genes in five major psychiatric disorders: A literature update
Ziarih Hawi et al.
published: 18 September 2017

paper[17] Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
Andreas Tzschach et al.
Nature Published: 21 October 2009

paper[18]
CTNND2— a candidate gene for reading problems and mild intellectual disability
Wolfgang Hofmeister et al.
February 3, 2015

paper[19]
HDAC9 is implicated in schizophrenia and expressed specifically in post-mitotic neurons but not in adult neural stem cells
Bing Lang et al.
Published online 2011 Aug 18.

paper[20]
Genetic analysis of the DLGAP1 gene as a candidate gene for schizophrenia
Jun-Ming Liet al
30 January 2013

paper[21]
Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation
Asif Mir et al.
11 December 2009

paper[22]
Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms
Siyuan Zhao et al.
eLife 2020

paper[23]
De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems
Erik A Ehli et al.
Nature Published: 11 April 2012

paper[24]
A novel relationship for schizophrenia, bipolar and major depressive disorder Part 5: a hint from chromosome 5 high density association screen
Xing Chen et al.
Published online 2017 May 15.


paper[25]
Neuronal cell adhesion genes Key players in risk for schizophrenia, bipolar disorder and other neurodevelopmental brain disorders?
Aiden P. Corvin
01 Oct 2010

paper[26]
Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders
Lu Xia et al.
published: 24 October 2019

paper[27]
Integrated multi-omics reveal epigenomic disturbance of assisted reproductive technologies in human offspring
WeiChen et al.
Volume 61, November 2020

paper[28]
Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition
B Morar et al.
Nature
Published: 15 June 2010

paper[29]
Genetic Basis of a Cognitive Complexity Metric
Narell K. Hansell et al.
Published: April 10, 2015

[cited from the above paper] Abstract
Relational complexity (RC) is a metric reflecting capacity limitation in relational processing. It plays a crucial role in higher cognitive processes and is an endophenotype for several disorders. However, the genetic underpinnings of complex relational processing have not been investigated. Using the classical twin model, we estimated the heritability of RC and genetic overlap with intelligence (IQ), reasoning, and working memory in a twin and sibling sample aged 15-29 years (N = 787). Further, in an exploratory search for genetic loci contributing to RC, we examined associated genetic markers and genes in our Discovery sample and selected loci for replication in four independent samples (ALSPAC, LBC1936, NTR, NCNG), followed by meta-analysis (N>6500) at the single marker level. Twin modelling showed RC is highly heritable (67%), has considerable genetic overlap with IQ (59%), and is a major component of genetic covariation between reasoning and working memory (72%). At the molecular level, we found preliminary support for four single-marker loci (one in the gene DGKB), and at a gene-based level for the NPS gene, having influence on cognition. These results indicate that genetic sources influencing relational processing are a key component of the genetic architecture of broader cognitive abilities. Further, they suggest a genetic cascade, whereby genetic factors influencing capacity limitation in relational processing have a flow-on effect to more complex cognitive traits, including reasoning and working memory, and ultimately, IQ.

paper[30]
SorCS2 is required for BDNF-dependent plasticity in the hippocampus
S Glerup el al.
Nature Published: 26 July 2016

paper[31]
Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A)*
JJ Higgins et al
published: 18 May 2004

paper[32]
Genetic Evaluation of Schizophrenia Using the Illumina HumanExome Chip
Tim Moons et al.
March 30, 2016

paper[33]
Allelic Association, DNA Resequencing and Copy Number Variation at the Metabotropic Glutamate Receptor GRM7 Gene Locus in Bipolar Disorder
Radhika Kandaswamy et al.
Accepted: 14 April 2014

paper[34]
NTM and NR3C2 polymorphisms influencing intelligence: Family-based association studies
Yue Pan et al.
Progress in Neuro-Psychopharmacology & Biological Psychiatry 35 (2011) 154–160

paper[35]
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
ChristianeZweier et al
13 November 2009,

paper[36]
Schizophrenia Candidate Gene ERBB4: Covert Routes of Vulnerability to Psychosis Detected at the Population Level
Nicholas C. Stefanis
March 2013

paper[37]
OPCML Gene as a Schizophrenia Susceptibility Locus in Thai Population
Benjaporn Panichareon
Published: 21 July 2011

paper[38]
Genetic variation in CADM2 as a link between psychological traits and obesity
Julia Morris et al
Nature Published: 14 May 2019

paper[39]
Investigation of modifier genes within copy number variations in Rett syndrome Rosangela Artuso et al Nature Published: 19 May 2011

paper[40]
Altered DNA methylation associated with a translocation linked to major mental illness
Daniel L. McCartney et al.
Nature Published: 19 March 2018

[cited from the above paper] Twenty-two of the DMRs identified were within the major histocompatibility complex (MHC; Fig. 3), which has been implicated in the pathogenesis of SZ through a large-scale GWAS.16 In addition, we identified DMRs within two additional genes (IGSF9B, CNTN4) that showed genome-wide association with SZ in the same study.
Two additional DMRs were identified within genes associated with SZ at the genome-wide significant level by the SZ Working Group of the Psychiatric Genomics Consortium (PGC).16 These were within the genes IGSF9B and CNTN4, both of which function as cell adhesion molecules. Two large-scale epigenome-wide association studies of SZ have recently been reported.12,13 These studies reported significant differential methylation in RPTOR: a gene in which we identified a DMR. RPTOR is a key component of mTOR signalling, which has been implicated in synaptic plasticity.36

paper[41]
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
Dilek Aktas et al.
Published: 28 May 2010

paper[42]
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
J Elia et al
Nature Published: 23 June 2009


paper[43]
GWAS Meta-Analysis Reveals Shared Genes and Biological Pathways between Major Depressive Disorder and Insomnia
Yi-Sian Lin
Published: 26 September 2021

paper[44]
The Gene Encoding Disabled-1 (DAB1), the Intracellular Adaptor of the Reelin Pathway, Reveals Unusual Complexity in Human and Mouse*
Isabelle Bar et al.
FEBRUARY 2003


paper[45]
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5
P.Kannu et al.
8, August 2013

paper[46]
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population
Po-Hsiu Kuo et al.
2015 Sep 23

paper[47]
Genetic Dissection of Temperament Personality Traits in Italian Isolates Maria Pina Concas et al. 21 December 2021

paper[48]
Attention, cognitive control and motivation in ADHD: Linking event-related brain potentials and DNA methylation patterns in boys at early school age
Hartmut Heinrich et al
. Published: 19 June 2017

paper[49]
Association study of the PDE4D gene and obsessive-compulsive disorder in a Chinese Han population
Huang, Xing et al.
December 2019

paper[50]
KCNIP4 as a candidate gene for personality disorders and adult ADHD
LenaWeißflog et al. 2012.07.017

paper[51]
Implication of synapse-related genes in bipolar disorder by linkage and gene expression analyses
Catalina Lopez de Lara
2010 Jul 29

paper[52]
Epigenome-Wide Association Study of Cognitive Functioning in Middle-Aged Monozygotic Twins
Anna Starnawskal et al
12 December 2017

paper[52]
Host genetics influences the relationship between the gut microbiome and psychiatric disorders
ThaisMartins-Silva
2 March 2021

paper[53]
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression
Eyal Ben-David et al
15 September 2011

paper[54]
Genome-wide association study for maximum number of alcohol drinks in European Americans and African Americans
Ke Xu et al
2015 Jun 3

paper[55]
Sex differences in schizophrenia: a longitudinal methylome analysis
Christopher Adanty et al
Published: 30 December 2021

paper[56]
Long non-coding RNA-associated competing endogenous RNA axes in the olfactory epithelium in schizophrenia: a bioinformatics analysis
Hani Sabaie et al.
Nature Published: 30 December 2021

paper[57]
Genome-Wide Search for SNP Interactions in GWAS Data: Algorithm, Feasibility, Replication Using Schizophrenia Datasets
Kwan-Yeung Lee et al.
Nature 28 August 2020

paper[58]
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance
Katherina Walz 2003 May

paper[58]
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
Janneke H M Schuurs-Hoeijmakers et al
February 13, 2014

paper[59]
Exposure to childhood abuse is associated with human sperm DNA methylation
Andrea L. Roberts et al.
Nature Published: 02 October 2018

paper[60]
LENS: web-based lens for enrichment and network studies of human proteins
Adam Handen et al
Published: 09 December 2015

paper[61]
Syndromic Mental Retardation With Thrombocytopenia Due to 21q22.11q22.12 Deletion:Report of Three Patients
Eleni Katzaki et al
Accepted 3 March 2010


paper[62]
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area
Chiara Floris et al
Nature Published: 13 February 2008

paper[63]
BCL9 and C9orf5 Are Associated with Negative Symptoms in Schizophrenia: Meta-Analysis of Two Genome-Wide Association Studies
Chun Xu etal.
Published: January 29, 2013

paper[64]
Case-Control Genome-Wide Association of Attention-Deficit / Hyperactivity Disorder
Benjamin M. Neale et al
Published online 2010 Aug 5

paper[65]
Calmodulin-binding transcription activator 1 ( CAMTA1 ) alleles predispose human episodic memory performance
Matthew J. Huentelman et al.
Published: 30 April 2007

paper[66]
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
Wei Xu et al.
Published: 04 January 2014

paper[67]
Replication and meta-analysis of TMEM132D gene variants in panic disorder A Erhardt et al Nature Published: 04 September 2012

paper[68]
KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia
Sara Mascheretti et al
Nature Published: 16 January 2014

paper[69]
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5 P.Kannu et al Issue 8, August 2013

paper[70]
LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD
Raymond A. Clarke et al.
Published: 27 December 2021

paper[71]
Human-Specific Genes, Cortical Progenitor Cells,and Microcephaly
Michael Heide
Published: 15 May 2021

paper[72]
Meta-analysis of Positive and Negative Symptoms Reveals Schizophrenia Modifier Genes
Alexis C. Edwards
Published: 27 August 2015

paper[73]
Genetic underpinnings of affective temperaments: a pilot GWAS investigation identifies a new genome-wide significant SNP for anxious temperament in ADGRB3 gene Xenia Gonda et al. Nature Published: 01 June 2021
[cited from above paper] Suggestively significant findings in SNP-based tests for depressive temperament
In case of depressive temperament, genome-wide SNP-based tests yielded a genomic inflation factor of λ = 1.00172. For the QQ plot, see Supplementary Fig. S3. No SNP survived Bonferroni correction for multiple testing, but five SNPs showed a suggestive significance, one of which resides in the SGCZ gene, whereas the rest are intergenic (Fig. 2 I-C and Table 1).

paper[74]
Identification of novel genome-wide associations for suicidality in UK Biobank, genetic correlation with psychiatric disorders and polygenic association with completed suicide
Rona J.Strawbridge
March 2019

paper[75]
Genetic Dissection of Temperament Personality Traits in Italian Isolates
Maria Pina Concas et al.
Published: 21 December 2021

paper[76]
Hippocampal overexpression of NOS1AP promotes endophenotypes related to mental disorders
FlorianFreudenberg et al.
September 2021

paper[77]
Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by- alcohol dependence interaction study of risky sexual behaviors
Renato Polimanti et al.
Published online 2017 Oct 9

paper[78]
Genetic mapping of habitual substance use, obesity-related traits, responses to mental and physical stress, and heart rate and blood pressure measurements reveals shared genes that are overrepresented in the neural synapse
Majid Nikpay
Nature Published: 02 February 2012
[cited]
Links between substance use habits, obesity, stress and the related cardiovascular outcomes can be, in part, because of loci with pleiotropic effects. To investigate this hypothesis, we performed genome-wide mapping in 119 multigenerational families from a population in the Saguenay-Lac-St-Jean region with a known founder effect using 58 000 single-nucleotide polymorphisms and 437 microsatellite markers to identify genetic components of the following factors: habitual alcohol, tobacco and coffee use; response to mental and physical stress; obesity-related traits; and heart rate (HR) and blood pressure (BP) measures. Habitual alcohol and/or tobacco users had attenuated HR responses to mental stress compared with non-users, whereas hypertensive individuals had stronger HR and systolic BP responses to mental stress and a higher obesity index than normotensives. Genetic mappings uncovered numerous shared genes among substance use, stress response, obesity and hemodynamic traits, including CAMK4, CNTN4, DLG2, FHIT, GRID2, ITPR2, NOVA1 and PRKCE, forming network of interacting proteins, sharing synaptic function and display higher and patterned expression profiles in brain-related tissues; moreover, pathway analysis of shared genes pointed to long-term potentiation.

paper[79]
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
Elena Bacchelli
Nature Published: 21 February 2020

paper[80]
A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family
Haiming Yuan et al.
2018 Aug 4

paper[81]
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
Martial Mallaret et al.
Issue 2, February 2014

paper[82]
Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders
Kanako Ishizuka et al.
Published: April 8, 2016

paper[83]
The human-specific paralogs SRGAP2B and SRGAP2C differentially modulate SRGAP2A-dependent synaptic development
Ewoud R. E. Schmidt et al.
Nature Published: 10 December 2019

paper[84]
Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer’s Disease
Jorge I. Vélez et al.
Published: 15 August 2018

paper[85]
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri et al.
Nature genetics
Published: 23 November 2008

paper[86]
A Combined Analysis of Genetically
Correlated Traits Identifies Genes and Brain Regions for Insomnia
Kezhi Liu
2020, Vol. 65(12) 874-884

paper[87]
Serious obstetric complications interact with hypoxia-regulated/vascular-expression genes to influence schizophrenia risk
K K Nicodemus et al.
Nature Published: 15 January 2008

paper[88]
Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151)
G Davies et al.
Nature Published: 05 April 2016

paper[89]
Implication of LRRC4C and DPP6 in neurodevelopmental disorders
Gilles Maussion et al.
Published online 2016 Oct 19


paper[90]
A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology
Malgorzata Marta Drozd et al.
Published online 2021
[cited from the above paper]
OR4C5 is a gene predicted by GDI to be highly damaging.

[notes]
# of SNVs in SNV-1/ns is 21.
"# of SNVs in SNV-35/ns" is 11.

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