研究结论和讨论部分指出，该研究首次提供了精神分裂症和便秘共病的遗传证据，加深了人们对两种疾病病理生理学的理解。此前的研究虽然发现了二者之间的联系，但未深入到遗传层面。此次研究确定的遗传风险位点和映射基因，为后续研究提供了重要方向。例如，GPR75-ASB3 已被确定为精神分裂症的致病标记，ASB3 不仅影响肠道状态，还参与神经炎症和神经退行性变；CHAC2 ...

在基因研究的大舞台上，全基因组关联研究（Genome-Wide Association Study，GWAS）发现了超多与人类疾病和性状相关的基因位点，这无疑是重大突破。但让人头疼的是，超过 90% 的 GWAS 位点都在基因组的非编码区域，这些位点的因果变异就像神秘的 “幕后黑手”，人们推测它们在调控基因表达，可就是难以捉摸。于是，表达数量性状位点（Expression Quantitative ...

*仅供医学专业人士阅读参考双相情感障碍（BD）和重度抑郁症（MDD）存在一些共同的临床症状，都属于情感障碍，二者也存在一些共同的遗传基础。已经有多项研究报道了BD和MDD相关的风险基因位点。但是，关于情感障碍的常见变异分析主要依赖于欧洲人群的全基因组 ...

Advances in generative artificial intelligence and machine learning, trained on large-scale datasets across multiple ...

Analyses of genome-wide association studies (GWAS) show that common SNPs can account for the majority of the heritability of complex traits, but that there are likely to be limits to the ...

*仅供医学专业人士阅读参考经过多年的研究，我们对帕金森病（PD）的关键病理蛋白α-突触核蛋白（α-syn）已经了解不少，知道是它的聚集介导了疾病的进展。聚集的α-syn形成原纤维，以类似朊病毒的方式在大脑各区域扩散，传播病理，但是α-syn在神经元间 ...

How to make racial representation in GWAS more proportionate? Thought leaders from Africa, South Korea, and New Zealand, discuss the causes, challenges, and action being taken to close the gap.

GWAS rely on large biobanks with extensive patient data. However, these repositories could be lacking anything from blood reports, scans, and patient history to family data. Even with a thorough ...

Higher coffee consumption is causally linked to delayed onset of Parkinson’s disease but does not affect disease risk or ...

Genome-wide association studies (GWASs) have linked genetic variants to neuropsychiatric disorders, but their regulatory roles in non-coding regions remain largely unclear. Using the LUHMES neuronal ...

A new study has uncovered key genetic factors that influence both biomass and sugar content in sugar beet, a critical crop ...