偏头痛的遗传风险位点和家族关联:台湾汉族人口全基因组关联研究》。

IF 2.9 3区 医学 Q2 CLINICAL NEUROLOGY Journal of Clinical Neurology Pub Date : 2024-07-01 DOI:10.3988/jcn.2023.0331
Yi Liu, Po-Kuan Yeh, Yu-Kai Lin, Chih-Sung Liang, Chia-Lin Tsai, Guan-Yu Lin, Yu-Chin An, Ming-Chen Tsai, Kuo-Sheng Hung, Fu-Chi Yang
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引用次数: 0

摘要

背景和目的:偏头痛是一种经常被观察到的家族性疾病,但其复杂的遗传背景仍不清楚。本研究旨在确定影响偏头痛的遗传因素及其与家族病史的潜在关联:我们对台湾 1561 名偏头痛门诊患者和 473 名非偏头痛患者(包括有或无偏头痛家族史的汉族人)进行了一项全面的全基因组关联研究。通过分析患者及其亲属的详细头痛病史,我们旨在分离出与偏头痛相关的潜在遗传标记,同时考虑性别、发作性偏头痛与慢性偏头痛以及是否存在先兆等因素:结果:我们发现了与偏头痛家族史相关的新的遗传风险位点,包括 DEAD-Box 螺旋酶 1 和长基因间非蛋白编码 RNA 1804 中的 rs2287637,以及吞噬和细胞运动 1 中的 rs12055943。我们还发现中胚层后BHLH转录因子2下游的一个基因位点与发作性偏头痛有关,而泛素特异性肽酶26外显子区、双特异性磷酸酶9和妊娠上调非泛素CaM激酶基因间区、多聚(ADP-核糖)聚合酶1和STUM内的基因位点与慢性偏头痛有关。此外,我们还发现了与是否存在先兆相关的基因区域。在 LINC02561 和尿皮质素 3 之间的一个基因座主要在女性患者中观察到。此外,在对照组中,三种不同的单核苷酸多态性与偏头痛家族史有关:这项研究在中国汉族人群中发现了与偏头痛及其家族史相关的新基因位点,加强了偏头痛的遗传背景。结论:本研究在中国汉族人群中发现了与偏头痛及其家族史相关的新基因位点,进一步证实了偏头痛的遗传背景。研究结果指出了潜在的候选基因,值得进一步研究。
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Genetic Risk Loci and Familial Associations in Migraine: A Genome-Wide Association Study in the Han Chinese Population of Taiwan.

Background and purpose: Migraine is a condition that is often observed to run in families, but its complex genetic background remains unclear. This study aimed to identify the genetic factors influencing migraines and their potential association with the family medical history.

Methods: We performed a comprehensive genome-wide association study of a cohort of 1,561 outpatients with migraine and 473 individuals without migraine in Taiwan, including Han Chinese individuals with or without a family history of migraine. By analyzing the detailed headache history of the patients and their relatives we aimed to isolate potential genetic markers associated with migraine while considering factors such as sex, episodic vs. chronic migraine, and the presence of aura.

Results: We revealed novel genetic risk loci, including rs2287637 in DEAD-Box helicase 1 and long intergenic non-protein coding RNA 1804 and rs12055943 in engulfment and cell motility 1, that were correlated with the family history of migraine. We also found a genetic location downstream of mesoderm posterior BHLH transcription factor 2 associated with episodic migraine, whereas loci within the ubiquitin-specific peptidase 26 exonic region, dual specificity phosphatase 9 and pregnancy-upregulated non-ubiquitous CaM kinase intergenic regions, and poly (ADP-ribose) polymerase 1 and STUM were linked to chronic migraine. We additionally identified genetic regionsassociated with the presence or absence of aura. A locus between LINC02561 and urocortin 3 was predominantly observed in female patients. Moreover, three different single-nucleotide polymorphisms were associated with the family history of migraine in the control group.

Conclusions: This study has identified new genetic locations associated with migraine and its family history in a Han Chinese population, reinforcing the genetic background of migraine. The findings point to potential candidate genes that should be investigated further.

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来源期刊
Journal of Clinical Neurology
Journal of Clinical Neurology 医学-临床神经学
CiteScore
4.50
自引率
6.50%
发文量
0
审稿时长
>12 weeks
期刊介绍: The JCN aims to publish the cutting-edge research from around the world. The JCN covers clinical and translational research for physicians and researchers in the field of neurology. Encompassing the entire neurological diseases, our main focus is on the common disorders including stroke, epilepsy, Parkinson''s disease, dementia, multiple sclerosis, headache, and peripheral neuropathy. Any authors affiliated with an accredited biomedical institution may submit manuscripts of original articles, review articles, and letters to the editor. The JCN will allow clinical neurologists to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism.
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