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
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 | 1731 | 1 | 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 | 1224 | 2 | 重度抑郁症 paper[6] |
KMT2C | 1091 | 3 | 双相情感障碍
paper[7] |
PTPRD | 1084 | 1 | 强迫症 paper[8] |
LINC00842 | 1008 | 1 | 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 | 800 | 2 | 0 |
LSAMP | 800 | 0 | 自杀行为 paper[15] |
WWOX | 797 | 0 | 智力低下
paper[81] |
DLG2 | 789 | 0 | 精神分裂症
paper[5] |
GUSBP1 | 760 | 1 | 0 |
EYS | 759 | 2 | 精神分裂症 paper[5] |
ANKRD30BL | 730 | 3 | 0 |
MACROD2 | 693 | 2 | 双相情感障碍 paper[5] |
DPP6 | 681 | 0 | 神经发育障碍 paper[89] |
LRP1B | 677 | 2 | 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 | 642 | 0 | 精神分裂症 paper[5] |
LINC00969 | 640 | 6 | 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 | 605 | 0 | 自闭症谱系障碍 paper[79] |
NRXN3 | 602 | 1 | 神经精神疾病 paper[80] |
CDH13 | 600 | 0 | 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 | 582 | 0 | 压抑的气质 paper[73] |
CNTN5 | 568 | 2 | 自杀 paper[74] |
PARK2 | 568 | 1 | 人的个性 paper[75] |
MAP2K3 | 564 | 5 | 精神错乱 paper[76] |
CCSER1 | 564 | 2 | 酗酒 paper[77] |
AC007682.1 | 562 | 1 | 0 |
GRID2 | 561 | 1 | 精神和身体压力 paper[78] |
CTNNA2 | 553 | 0 | 教育
paper[5] |
DAB1 | 528 | 0 | 智力低下 paper[44] |
GPC5 | 527 | 1 | 认知发展 paper[45] |
NAALADL2 | 519 | 0 | 自闭症谱系障碍 paper[46] |
MAGI2 | 506 | 1 |
精神分裂症,重度抑郁症[paper[47], 人的个性[paper[75] |
DPP10 | 505 | 0 | 注意力缺陷多动障碍 paper[48] |
PDE4D | 503 | 14 | 强迫症 paper[49] |
KCNIP4 | 497 | 0 | 人格障碍,注意力缺陷多动障碍 paper[50] |
CNTN4 | 485 | 1 | 精神分裂症 paper[40] |
TBC1D5 | 478 | 0 | paper[51] 躁郁症 |
AGBL4 | 474 | 2 | paper[52] 认知能力 |
ASIC2 | 471 | 0 | paper[52] 精神分裂症 |
CADM2 | 471 | 1 | 智力(精神错乱) paper[38] c认知功能和教育程度 paper[88] |
CDH12 | 469 | 0 | 精神分裂症,双相情感障碍,重度抑郁症 paper[24] |
ZDHHC11 | 468 | 4 | 0 |
ADARB2 | 468 | 0 | paper[53] 自闭症谱系障碍 |
DCC | 467 | 2 | 一般认知功能 paper[5] |
GALNTL6 | 459 | 0 | 0 |
ANKRD36 | 458 | 23 | 酒精依赖 paper[54] |
CDH4 | 457 | 0 | 精神分裂症 paper[25] |
PRR4 | 457 | 1 | 精神分裂症 paper[55] |
LRRC4C | 448 | 0 | 厌食症 paper[5] |
MIR4435-1HG | 445 | 0 | 0 |
LINC00960 | 443 | 4 | 精神分裂症 paper[56] |
SLC9B1P4 | 442 | 1 | 0 |
PTPRT | 434 | 0 | 智力 paper[58] |
SDK1 | 431 | 2 | 精神(童年虐待) paper[59] |
PARD3B | 430 | 2 | 精神障碍 paper[60] |
SLC9B1P1 | 425 | 16 | 0 |
TAS2R14 | 421 | 0 | 0 |
RUNX1 | 420 | 2 |
智力低下 paper[61] |
AUTS2 | 420 | 0 | 精神分裂症,自闭症谱系障碍 paper[42],[53] |
CSMD3 | 418 | 1 | 自闭症谱系障碍 paper[62] |
NRXN1 | 418 | 1 | 自闭症谱系障碍,精神分裂症 paper[35], paper[95] |
LINC00955 | 418 | 7 | 0 |
ZNF385D | 418 | 0 | 精神分裂症 paper[63] |
PRKG1 | 417 | 0 | 注意力缺陷多动障碍 paper[64] |
CAMTA1 | 416 | 0 | 内存性能 paper[65] |
SPAG16 | 414 | 3 | 双相情感障碍 paper[66] |
TMEM132D | 410 | 0 | 恐慌症 paper[67] |
ROBO1 | 409 | 1 | 语言和数学能力 paper[68] |
GPC6 | 408 | 0 | 自闭症特征 paper[69] |
NBPF1 | 407 | 14 | 脑容量 paper[92] |
LRRTM4 | 406 | 1 | Tourette 综合症, 自闭症,注意力缺陷多动障碍 paper[70] |
NOTCH2NL | 405 | 2 | 脑 size paper[71] |
NCOR1P2 | 402 | 1 | 0(Blood Pressure) |
TTC34 | 400 | 3 | 0 |
NKAIN2 | 398 | 1 | 精神分裂症 paper[72] |
SMYD3 | 397 | 0 | paper[41] 智力低下 |
RPTOR | 395 | 0 | 精神分裂症 paper[40] |
AC090044.1 | 394 | 0 | 0 |
OPCML | 390 | 2 | 精神分裂症 paper[37] |
SNX29 | 390 | 0 | 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 | 387 | 0 | 精神分裂症 paper[36] |
ERC2 | 386 | 0 | 自闭症谱系障碍,精神分裂症 paper[35] |
NTM | 385 | 0 | intelligence quotient (IQ) paper[34] |
SRGAP2B | 383 | 0 | 大脑发育进化 paper[83] |
SLC9B1P3 | 383 | 3 | 0 |
CNTNAP3B | 379 | 7 | 0 |
GRM7 | 379 | 2 | 双相情感障碍 paper[33] |
CACNA2D3 | 379 | 0 | 精神分裂症 paper[32] |
MIR663A | 376 | 0 | 0 |
SNTG1 | 376 | 0 | 阿尔茨海默氏症 paper[84] |
SUMF1 | 374 | 0 | 智力低下 paper[31] |
SORCS2 | 373 | 4 | 双相情感障碍,精神分裂症,注意力缺陷多动障碍 paper[30] |
DMD | 373 | 2 | 0 |
HYDIN | 372 | 2 | 脑容量 paper[85] |
DGKB | 372 | 1 | 认知能力 paper[29] |
NRG3 | 371 | 0 | 精神分裂症 paper[28] |
FAM182B | 369 | 13 | 0 |
TEKT4P2 | 368 | 0 | 0 |
DIP2C | 367 | 2 | 精神疾病 paper[27] |
AGBL1 | 366 | 0 | 自闭症谱系障碍 paper[26] |
CDH18 | 364 | 0 | 精神分裂症,双相情感障碍,重度抑郁症 paper[24] |
HERC2P3 | 364 | 0 | 注意力缺陷多动障碍 paper[23] |
FRG2C | 363 | 24 | 注意力缺陷多动障碍 paper[23] |
TRPM3 | 359 | 0 | 智力残疾 paper[22] |
TRAPPC9 | 358 | 0 | 智力低下
paper[21] |
ERICH1-AS1 | 357 | 0 | 精神分裂症 paper[5] |
DLGAP1 | 355 | 0 | 精神分裂症 paper[20] |
HDAC9 | 354 | 0 | 精神分裂症 paper[19] |
CTNND2 | 354 | 1 | 智力残疾 paper[18] |
CACNA1C | 302 | 1 | 精神分裂症 paper[95] |
CACNA1B | 220(# of SNV-35=26) | 1 | 精神分裂症 paper[96] |
OR4C5 | 155 | 21 | 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.
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.
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.
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].
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Identification of 11 potenti智力y relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy
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Association of limbic system-associated membrane protein (LSAMP) to male completed suicide
Anne Must et al.
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[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.
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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive 智力低下
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eLife 2020
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[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.
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Daniel L. McCartney et 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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Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
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Nature Published: 02 October 2018
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Syndromic 智力低下 With Thrombocytopenia Due to 21q22.11q22.12 Deletion:Report of Three Patients
Eleni Katzaki et al
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Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area
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Michael Heide
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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).
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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
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Genetic Dissection of Temperament Personality Traits in Italian Isolates
Maria Pina Concas et al.
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Hippocampal overexpression of NOS1AP promotes endophenotypes related to mental disorders
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Ancestry-specific and sex-specific risk 智力eles identified in a genome-wide gene-by- alcohol dependence interaction study of risky sexual behaviors
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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.
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An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
Elena Bacchelli
Nature Published: 21 February 2020
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A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family
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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and 智力低下
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
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A Combined Analysis of Genetic智力y
Correlated Traits Identifies Genes and Brain Regions for 失眠
Kezhi Liu
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Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151)
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A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology
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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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