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韩国人特有的基因突变
有大量与精神障碍相关的基因

此页面是通过机器翻译从英文到中文创建的。如果你会看英文,请用英文阅读



人的个性(即气质和性格)是与心理健康相关的复杂特征,受遗传和环境因素的影响。尽管在过去几十年中做出了努力,但它的遗传背景才刚刚开始被发现。 从明确的数据来看,韩国人可能“疯了”。下面的列表是 韩国人特异性突变列表的一部分
基因列表来自下面的论文

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

SNV=单核苷酸变体

缩写 上述论文中的内容如下。
 
KPGP=韩国个人基因组计划
1KGP=1000 基因组计划
SNV-1=在 35 名韩国人中至少有一人检测到 SNV,但未包含在 HapMap 或 1KGP 中
SNV-35=在所有 35 名韩国人中检测到 SNV,但未包含在 HapMap 或 1KGP 中
SNV-1/ns= 来自 SNV-1 的非同义 SNV
SNV-35/ns=来自 SNV-35 的非同义 SNV

请记住,上述论文实际上是由 FDA(美国食品和药物管理局)撰写的,正式否认了这一事实。

上述论文未投稿至 Nature 或 Science 等著名科学期刊,但该论文于 2014 年 3 月在美国奥克兰举行的学术会议上发表。

上述论文的作者如下,除罗恒为FDA研究员或编程工程师外,其余作者均为FDA研究员或编程工程师。 (上述论文发表时,罗恒是美国阿肯色大学的研究生,目前在FDA做研究员)

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.)

[引用自上述人口遗传学论文]
内容完全由作者负责,并不一定代表美国食品和药物管理局、国家研究资源中心或美国国立卫生研究院的官方观点。

披露
本文中的调查结果和结论尚未由美国食品和药物管理局 (FDA) 正式传播,不应被解释为代表 FDA 的决定或政策。

声明
本文的出版费用由美国政府资助。





1. 请不要误会下面的列表都是正确的,因为其他论文可能会显示不同或相反的结果。如果您知道否认结果的论文,请通知我

2. 请仔细思考下面列出的异常结果。令我遗憾的是下面的遗传学论文显示“疯狂的韩国人”
>
基因名称
疾病基因候选者
# of SNV-1 # of SNV-1/ns 精神障碍
心理特征
神经精神疾病
PRIM2 5033 10 失眠
paper[86]
CSMD1 1786 1 精神分裂症
paper[9],paper[52]
snoU13 17311 重度抑郁症, 失眠
paper[43]
PDE4DIP 1374 14 brain,paper[4]
重度抑郁症,paper[91]
RBFOX1 1272 0 智力
paper[5]
PTPRN2 12242 重度抑郁症
paper[6]
KMT2C 1091 3 双相情感障碍
paper[7]
PTPRD 10841 强迫症
paper[8]
LINC00842 10081 0
CNTNAP2 940 2 精神分裂症
paper[10]
ROBO2 932 1精神分裂症 and 重度抑郁症
paper [13]
ZNF717 859 28 智力残疾, paper[14]
复杂的神经精神综合征, paper[93]
脑,paper[94] ,
CROCC 844 5 Rett 综合征
paper[39]
AF146191.4 8002 0
LSAMP 8000 自杀行为
paper[15]
WWOX 7970 智力低下
paper[81]
DLG2 7890 精神分裂症
paper[5]
GUSBP1 7601 0
EYS 7592 精神分裂症
paper[5]
ANKRD30BL 7303 0
MACROD2 6932 双相情感障碍
paper[5]
DPP6 681 0 神经发育障碍
paper[89]
LRP1B 6772 一般认知功能
paper[5]
TPTE 664 9 0
ANKRD36C 653 23 0
PCDH15 645 5 精神分裂症,自闭症谱系障碍
paper[82]
FHIT 6420 精神分裂症
paper[5]
LINC00969 6406 paper[57]
精神分裂症
KCNJ12 626 16 paper[58]
Smith-Magenis 综合征
BAGE2 618 3 0
UPK3B 608 1 0
CTNNA3 6050 自闭症谱系障碍
paper[79]
NRXN3 6021 神经精神疾病
paper[80]
CDH13 6000 自闭症谱系障碍, 精神分裂症, BD, 重度抑郁症, 注意力缺陷多动障碍
paper[16],paper[64]
SGCZ 5820 压抑的气质
paper[73]
CNTN5 568 2 自杀
paper[74]
PARK2 5681 人的个性
paper[75]
MAP2K3 564 5 精神错乱
paper[76]
CCSER1 5642 酗酒
paper[77]
AC007682.1 5621 0
GRID2 561 1 精神和身体压力
paper[78]
CTNNA2 5530 教育
paper[5]
DAB1 5280 智力低下
paper[44]
GPC5 5271 认知发展
paper[45]
NAALADL2 5190 自闭症谱系障碍
paper[46]
MAGI2 5061 精神分裂症,重度抑郁症[paper[47],
人的个性[paper[75]
DPP10 5050 注意力缺陷多动障碍
paper[48]
PDE4D 50314 强迫症
paper[49]
KCNIP4 4970 人格障碍,注意力缺陷多动障碍
paper[50]
CNTN4 4851 精神分裂症
paper[40]
TBC1D5 478 0 paper[51]
躁郁症
AGBL4 4742 paper[52]
认知能力
ASIC2 4710 paper[52]
精神分裂症
CADM2 4711 智力(精神错乱) paper[38]
c认知功能和教育程度
paper[88]
CDH12 4690 精神分裂症,双相情感障碍,重度抑郁症
paper[24]
ZDHHC11 4684 0
ADARB2 468 0 paper[53]
自闭症谱系障碍
DCC 4672 一般认知功能
paper[5]
GALNTL6 459 0 0
ANKRD36 45823 酒精依赖
paper[54]
CDH4 4570 精神分裂症
paper[25]
PRR4 4571 精神分裂症
paper[55]
LRRC4C 4480 厌食症
paper[5]
MIR4435-1HG 4450 0
LINC00960 4434 精神分裂症
paper[56]
SLC9B1P4 4421 0
PTPRT 4340 智力
paper[58]
SDK1 4312 精神(童年虐待)
paper[59]
PARD3B 4302 精神障碍
paper[60]
SLC9B1P1 425 16 0
TAS2R14 421 0 0
RUNX1 4202 智力低下
paper[61]
AUTS2 4200 精神分裂症,自闭症谱系障碍
paper[42],[53]
CSMD3 4181 自闭症谱系障碍
paper[62]
NRXN1 4181 自闭症谱系障碍,精神分裂症
paper[35], paper[95]
LINC00955 4187 0
ZNF385D 4180 精神分裂症
paper[63]
PRKG1 417 0 注意力缺陷多动障碍
paper[64]
CAMTA1 4160 内存性能
paper[65]
SPAG16 4143 双相情感障碍
paper[66]
TMEM132D 4100 恐慌症
paper[67]
ROBO1 4091 语言和数学能力
paper[68]
GPC6 4080 自闭症特征
paper[69]
NBPF1 407 14 脑容量
paper[92]
LRRTM4 4061 Tourette 综合症, 自闭症,注意力缺陷多动障碍
paper[70]
NOTCH2NL 4052 脑 size
paper[71]
NCOR1P2 4021 0(Blood Pressure)
TTC34 4003 0
NKAIN2 3981 精神分裂症
paper[72]
SMYD3 3970 paper[41]
智力低下
RPTOR 3950 精神分裂症
paper[40]
AC090044.1 3940 0
OPCML 3902 精神分裂症
paper[37]
SNX29 3900 Education
paper[5],
自闭症谱系障碍
paper[26]
NRG1 388 0 注意力缺陷多动障碍
paper[2]
精神分裂症
paper[11]paper[87]
ERBB4 3870 精神分裂症
paper[36]
ERC2 3860 自闭症谱系障碍,精神分裂症
paper[35]
NTM 3850 intelligence quotient (IQ)
paper[34]
SRGAP2B 3830 大脑发育进化
paper[83]
SLC9B1P3 3833 0
CNTNAP3B 3797 0
GRM7 379 2 双相情感障碍
paper[33]
CACNA2D3 3790 精神分裂症
paper[32]
MIR663A 3760 0
SNTG1 3760 阿尔茨海默氏症
paper[84]
SUMF1 3740 智力低下
paper[31]
SORCS2 3734 双相情感障碍,精神分裂症,注意力缺陷多动障碍
paper[30]
DMD 3732 0
HYDIN 3722 脑容量
paper[85]
DGKB 3721 认知能力
paper[29]
NRG3 3710 精神分裂症
paper[28]
FAM182B 36913 0
TEKT4P2 3680 0
DIP2C 3672 精神疾病
paper[27]
AGBL1 3660 自闭症谱系障碍
paper[26]
CDH18 3640 精神分裂症,双相情感障碍,重度抑郁症
paper[24]
HERC2P3 3640 注意力缺陷多动障碍
paper[23]
FRG2C 36324 注意力缺陷多动障碍
paper[23]
TRPM3 3590 智力残疾
paper[22]
TRAPPC9 3580 智力低下
paper[21]
ERICH1-AS1 3570 精神分裂症
paper[5]
DLGAP1 3550 精神分裂症
paper[20]
HDAC9 354 0 精神分裂症
paper[19]
CTNND2 3541 智力残疾
paper[18]
CACNA1C 3021 精神分裂症
paper[95]
CACNA1B 220(# of SNV-35=26)1 精神分裂症
paper[96]
OR4C5 15521 精神分裂症
paper[90]

1. 毫无疑问,绝大多数超过 350 的 SNV-1 与精神疾病、人格障碍和人类人格有关, 换句话说,尽管地理上相近,但韩国人的心理特征与中国人和日本人完全不同。

2.不用说,重要的是不要忘记遗传病理学的论文在很多情况下包含很多有争议和有争议的结果, 所以请记住上述论文中提出的结果不一定正确的假设。 因此,多篇论文必须表明精神疾病和基因之间存在遗传关联。

3. 韩国学历高、人口多,63项国际科学奖全无获得者 (详细数据在这里),这个事实与上面的列表完全吻合。

PRIM2 和 snoU13 基因

可以肯定的是,与重度抑郁症有关的失眠症在韩国蔓延,而韩式的失眠症是由PRIM2和snoU13基因引起的。

South Korea: Why so many struggle to sleep from BBC
South Korea is one of the most sleep deprived nations on earth. It also has the highest suicide rate among developed nations, the highest consumption of hard liquor and a huge number of people on antidepressants.

In Seoul, whole department stores are devoted to sleep products, from the perfect sheets to the optimum pillow, while pharmacies offer shelves full of herbal sleep remedies and tonics. And then there are the tech approaches to 失眠.


CSMD1,CNTNAP2,OR4C5 和别的

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.韩式精神分裂症存在于韩国人这一事实是无可争辩的。 然而,据我所知,没有任何论文表明韩国精神分裂症患者的特有症状。

2.请不要误解,韩国人的精神分裂症患病率低于其他民族,事实恰恰相反。 与白人和黑人相比,韩国人、日本人和中国人的精神分裂症患病率较低。

Characteristics of Korean-Americans With Schizophrenia: A Cross-Ethnic Comparison With African-Americans, Latinos, and Euro-Americans
Sung-Woo Bae and John S. Brekke
Schizophrenia Bulletin, Vol. 28, No. 4, 2002

[cited]
Data on 223 individuals diagnosed with schizophrenia who were Korean-American (« = 40), Euro-American (« = 95), African-American (n = 60), and Latino (n = 28) were gathered in face-to-face interviews. 智力 of the subjects were engaged in outpatient treatment. After controlling for sociodemographic variables, the main findings were as follows: (1) while the Korean-Americans were the least acculturated, their symptom levels and clinical status were highly comparable with those of the other ethnic groups; (2) based on living situation, family contact, social functioning, activities of daily living, and vocational data, the Korean-Americans showed a stronger familial orientation, lower social initiation, and higher affiliative qualities than other groups; (3) the Korean-American sample had comparable levels of self-esteem but reported lower satisfaction with life than the other ethnic groups. Minority status did not confound these findings. It is concluded that the psychosocial profile of the Korean-Americans was strongly influenced by their traditional and collectivistic cultural orientation.


PDE4DIP and ZNF717 gene

这些基因可能是决定韩国人性格(即气质和性格)的关键基因。

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

Extensive genomic and transcriptional diversity identified through massively par智力el DNA and RNA sequencing of eighteen Korean individuals
Young Seok Ju et al.
Nature Genetics VOLUME 43 | NUMBER 8 | AUGUST 2011

[cited]
A subset of the nsSNPs showed remarkably high 智力ele frequencies among the Koreans studied compared to other populations, including Europeans and west Africans represented in the HapMap project.



We found a subset of genes to be highly enriched for nsSNPs, here c智力ed super nsSNP genes (Supplementary Table 8 and Supplementary Note). For example, ZNF717 and CDC27 showed ~100 times increased density of nsSNPs compared to other genes (Table 2).

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

[cited]
We identified cis associations between 648 transcripts and 6725 SNPs in the various brain regions. Several SNPs showed brain regional-specific associations. The expression level of only one gene, PDE4DIP, was associated with a SNP, rs12124527, in 智力 the brain regions tested here.

In this study, we conducted an eQTL analysis of 315 440 transcripts in 5 different brain regions from two different tissue collections and identified cis associations between 648 transcripts and 6725 SNPs. The expression of one gene, PDE4DIP, was associated with one SNP, rs12124527, in 智力 brain regions examined.




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

据我所知,上述论文是最全面的与智力相关的基因论文,补充材料包括智力基因列表。
与上述论文和SNV-1比较的结果

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

令人惊讶的是,几乎所有的SNV-1都与智力有关,具体来说,上述论文指定的507个与智力相关的基因中有496个基因(97.8%)是SNV-1。 (SNV-1=仅韩国人变种=在 35 名韩国人中的至少一人中检测到但未包含在 HapMap 或 1KGP 中的 SNV)

也许,你会认为韩国人的智慧与中国人和日本人的智慧并没有什么不同。 但是,毫无疑问,遗传学论文清楚地表明,韩国人在智力上与中国人和日本人完全不同。

尽管地理上接近,为什么会发生这种奇怪的现象?
13世纪成吉思汗父子入侵朝鲜半岛发生瓶颈效应
我推断朝鲜半岛的人口在 13 世纪下降了 85% 到 90%。(请阅读本文,使用机器翻译工具。 中国研究人员估计,邻近的中国辽宁省的人口在同一时期也减少了 90%。)

或许,这句话将在未来的三年内传遍全球。

你和韩国人一样疯狂。


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, 注意力缺陷多动障碍, 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 potenti智力y 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 specific智力y 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 智力低下
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.
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[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 sign智力ing, which has been implicated in synaptic plasticity.36

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[cited]
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[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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Chu-Yi Zhang et al.
Nature Published: 08 March 2021



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Functional analysis of schizophrenia genes using GeneAnalytics program and integrated databases
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Published online 2017 Oct 13




The following points are scientific facts of The Koreans DNA, indecating the uniquness of genetic structure.
1. Unusual high ratio of nonsynonymous variants compared with other population.
2.Strange distribution of minor 智力ele of frequency and of The Koreans only variants.