K
Kaz
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- Nov 29, 2020
- 3,742
For those who don't know, even a one-point difference is huge.
Last edited:
Nuke below 101.nuke bellow 95
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 65622 | C=0.61295 | T=0.38705 |
European | Sub | 46144 | C=0.67573 | T=0.32427 |
African | Sub | 5836 | C=0.4231 | T=0.5769 |
African Others | Sub | 202 | C=0.371 | T=0.629 |
African American | Sub | 5634 | C=0.4249 | T=0.5751 |
Asian | Sub | 502 | C=0.189 | T=0.811 |
East Asian | Sub | 402 | C=0.169 | T=0.831 |
An international team of scientists has successfully mapped the human genes that either increase or disrupt the brain's resistance to various neurological and mental illnesses. This study, presented in the journal Nature Genetics, has identified novel genes that could provide insight into the differences that exist in brain size and intelligence. The results could also lead to the development of new drug treatments.
'Our individual centres couldn't review enough brain scans to obtain definitive results,' says Professor Thompson. 'By sharing our data with project ENIGMA, we created a sample large enough to reveal clear patterns in genetic variation and show how these changes physically alter the brain.'
The researchers observed subtle shifts in the genetic code of subjects whose images showed smaller brains. The memory centres were also smaller, according to the team. It should be noted that no matter where the subjects hailed from, the same genes affected the brain in similar ways.
The team also found genes that explain individual differences in intelligence, uncovering a variant in a gene called HMGA2 that affected both brain size and intelligence. DNA has four bases: A, C, T and G; subjects whose HMGA2 gene had C instead of T had larger brains and recorded higher results on standardised intelligence quotient (IQ) tests.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 249570 | C=0.462279 | T=0.537721 |
European | Sub | 218988 | C=0.472976 | T=0.527024 |
African | Sub | 7884 | C=0.5008 | T=0.4992 |
African Others | Sub | 290 | C=0.510 | T=0.490 |
African American | Sub | 7594 | C=0.5004 | T=0.4996 |
Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer’s disease1,2 and is reduced in schizophrenia3, major depression4 and mesial temporal lobe epilepsy5. Whereas many brain imaging phenotypes are highly heritable6,7, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 × 10−16) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 × 10−12). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10−7).
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 279594 | T=0.887716 | C=0.112284 |
European | Sub | 244240 | T=0.898444 | C=0.101556 |
African | Sub | 8612 | T=0.6227 | C=0.3773 |
African Others | Sub | 304 | T=0.516 | C=0.484 |
African American | Sub | 8308 | T=0.6266 | C=0.3734 |
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 279594 | T=0.887716 | C=0.112284 |
European | Sub | 244240 | T=0.898444 | C=0.101556 |
African | Sub | 8612 | T=0.6227 | C=0.3773 |
African Others | Sub | 304 | T=0.516 | C=0.484 |
African American | Sub | 8308 | T=0.6266 | C=0.3734 |
We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10−7).
rs10494373 is at 1q23.3: position 160,885,986. Effect allele, C; non-effect allele, A.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 197560 | A=0.923679 | C=0.076321 |
European | Sub | 174448 | A=0.922739 | C=0.077261 |
African | Sub | 7092 | A=0.9267 | C=0.0733 |
African Others | Sub | 264 | A=0.951 | C=0.049 |
African American | Sub | 6828 | A=0.9257 | C=0.0743 |
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 65622 | C=0.61295 | T=0.38705 |
European | Sub | 46144 | C=0.67573 | T=0.32427 |
African | Sub | 5836 | C=0.4231 | T=0.5769 |
African Others | Sub | 202 | C=0.371 | T=0.629 |
African American | Sub | 5634 | C=0.4249 | T=0.5751 |
Asian | Sub | 502 | C=0.189 | T=0.811 |
East Asian | Sub | 402 | C=0.169 | T=0.831 |
Population Group Sample Size Ref Allele Alt Allele
Population Group Sample Size Ref Allele Alt Allele Total Global 34932 T=0.81246 C=0.18754, G=0.00000 European Sub 30102 T=0.79496 C=0.20504, G=0.00000 African Sub 2902 T=0.9628 C=0.0372, G=0.0000 African Others Sub 114 T=0.991 C=0.009, G=0.000 African American Sub 2788 T=0.9616 C=0.0384, G=0.0000 Asian Sub 156 T=1.000 C=0.000, G=0.000 East Asian Sub 130 T=1.000 C=0.000, G=0.000
The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be measured in vivo by magnetic resonance imaging (MRI). Studies in model organisms have identified genes that influence cortical structure, but little is known about common genetic variants that affect human cortical structure.
RATIONALE
To identify genetic variants associated with human cortical structure at both global and regional levels, we conducted a genome-wide association meta-analysis of brain MRI data from 51,665 individuals across 60 cohorts. We analyzed the surface area and average thickness of the whole cortex and 34 cortical regions with known functional specializations.
RESULTS
We identified 369 nominally genome-wide significant loci (P < 5 × 10−8) associated with cortical structure in a discovery sample of 33,992 participants of European ancestry. Of the 360 loci for which replication data were available, 241 loci influencing surface area and 66 influencing thickness remained significant after replication, with 237 loci passing multiple testing correction (P < 8.3 × 10−10; 187 influencing surface area and 50 influencing thickness).
Common genetic variants explained 34% (SE = 3%) of the variation in total surface area and 26% (SE = 2%) in average thickness; surface area and thickness showed a negative genetic correlation (rG = −0.32, SE = 0.05, P = 6.5 × 10−12), which suggests that genetic influences have opposing effects on surface area and thickness. Bioinformatic analyses showed that total surface area is influenced by genetic variants that alter gene regulatory activity in neural progenitor cells during fetal development. By contrast, average thickness is influenced by active regulatory elements in adult brain samples, which may reflect processes that occur after mid-fetal development, such as myelination, branching, or pruning. When considered together, these results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness.
Portugal 95 View attachment 35924
Moreover, two suggestive variants associated with putamen and caudate volumes exceeded genome-wide significance after meta-analysis across the discovery and replication data sets (Table 1). Effect sizes were similar across cohorts (P > 0.1, Cochran’s Q test; Extended Data Fig. 4b). Effect sizes remained consistent after excluding patients diagnosed with anxiety, Alzheimer’s disease, attention-deficit/hyperactivity disorder, bipolar disorder, epilepsy, major depressive disorder or schizophrenia (21% of the discovery participants). Correlation in effect size with and without patients was very high (r > 0.99) for loci with P < 1 × 10−5, indicating that these effects were unlikely to be driven by disease (Extended Data Fig. 5a). The participants’ age range covered most of the lifespan (9–97 years), but only one of the eight significant loci showed an effect related to the mean age of each cohort (P = 0.002; rs6087771 affecting putamen volume; Extended Data Fig. 5b), suggesting that nearly all effects are stable across the lifespan. In addition, none of these loci showed evidence of sex effects (Extended Data Fig. 5c).
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 22178 | C=0.46736 | A=0.00000, T=0.53264 |
European | Sub | 19014 | C=0.45051 | A=0.00000, T=0.54949 |
African | Sub | 1296 | C=0.6096 | A=0.0000, T=0.3904 |
African Others | Sub | 66 | C=0.65 | A=0.00, T=0.35 |
African American | Sub | 1230 | C=0.6073 | A=0.0000, T=0.3927 |
Asian | Sub | 54 | C=0.76 | A=0.00, T=0.24 |
East Asian | Sub | 46 | C=0.80 | A=0.00, T=0.20 |
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 19550 | T=0.87535 | G=0.12465 |
European | Sub | 14364 | T=0.84788 | G=0.15212 |
African | Sub | 3380 | T=0.9680 | G=0.0320 |
African Others | Sub | 114 | T=1.000 | G=0.000 |
African American | Sub | 3266 | T=0.9669 | G=0.0331 |
Asian | Sub | 146 | T=0.993 | G=0.007 |
East Asian | Sub | 120 | T=1.000 | G=0.000 |
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 17654 | ||
European | Sub | 12466 | T=0.82031 | C=0.17969, G=0.00000 |
East Asian | Sub | 102 | T=1.000 | C=0.000, G=0.000 |
You gonna give us a quick rundown of what all that means?
View attachment 35926
View attachment 35928
rs1318862:
Population Group Sample Size Ref Allele Alt Allele
Population Group Sample Size Ref Allele Alt Allele Total Global 22178 C=0.46736 A=0.00000, T=0.53264 European Sub 19014 C=0.45051 A=0.00000, T=0.54949 African Sub 1296 C=0.6096 A=0.0000, T=0.3904 African Others Sub 66 C=0.65 A=0.00, T=0.35 African American Sub 1230 C=0.6073 A=0.0000, T=0.3927 Asian Sub 54 C=0.76 A=0.00, T=0.24 East Asian Sub 46 C=0.80 A=0.00, T=0.20
Population Group Sample Size Ref Allele Alt Allele
rs61921502:
Population Group Sample Size Ref Allele Alt Allele Total Global 19550 T=0.87535 G=0.12465 European Sub 14364 T=0.84788 G=0.15212 African Sub 3380 T=0.9680 G=0.0320 African Others Sub 114 T=1.000 G=0.000 African American Sub 3266 T=0.9669 G=0.0331 Asian Sub 146 T=0.993 G=0.007 East Asian Sub 120 T=1.000 G=0.000
rs6087771:
Population Group Sample Size Ref Allele Alt Allele
Population Group Sample Size Ref Allele Alt Allele Total Global 17654 European Sub 12466 T=0.82031 C=0.17969, G=0.00000 East Asian Sub 102 T=1.000 C=0.000, G=0.000
You gonna give us a quick rundown of what all that means?
You gonna give us a quick rundown of what all that means?
Does it mean white people are prone to mental illnesses? Is that what that data suggests?Potentially. I haven't sorted all of my data yet.