To investigate the genetics of late-onset myasthenia gravis (LOMG), we conducted a genome-wide association study imputation of>6 million single nucleotide polymorphisms (SNPs) in 532 LOMG cases (anti-acetylcholine receptor [AChR] antibody positive; onset age≥50 years) and 2,128 controls matched for sex and population substructure. The data confirm reported TNFRSF11A associations (rs4574025, P = 3.9 × 10-7, odds ratio [OR] 1.42) and identify a novel candidate gene, ZBTB10, achieving genome-wide significance (rs6998967, P = 8.9 × 10-10, OR 0.53). Several other SNPs showed suggestive significance including rs2476601 (P = 6.5 × 10-6, OR 1.62) encoding the PTPN22 R620W variant noted in early-onset myasthenia gravis (EOMG) and other autoimmune diseases. In contrast, EOMG-associated SNPs in TNIP1 showed no association in LOMG, nor did other loci suggested for EOMG. Many SNPs within the major histocompatibility complex (MHC) region showed strong associations in LOMG, but with smaller effect sizes than in EOMG (highest OR ~2 versus ~6 in EOMG). Moreover, the strongest associations were in opposite directions from EOMG, including an OR of 0.54 for DQA1*05:01 in LOMG (P = 5.9 × 10-12) versus 2.82 in EOMG (P = 3.86 × 10-45). Association and conditioning studies for the MHC region showed three distinct and largely independent association peaks for LOMG corresponding to (a) MHC class II (highest attenuation when conditioning on DQA1), (b) HLA-A and (c) MHC class III SNPs. Conditioning studies of human leukocyte antigen (HLA) amino acid residues also suggest potential functional correlates. Together, these findings emphasize the value of subgrouping myasthenia gravis patients for clinical and basic investigations and imply distinct predisposing mechanisms in LOMG.

译文

:为了研究迟发性重症肌无力(LOMG)的遗传学,我们进行了全基因组关联研究,估算了532例LOMG病例中> 600万个单核苷酸多态性(SNP)(抗乙酰胆碱受体[AChR]抗体呈阳性;年龄≥50岁)和2,128名对照者的性别和人口子结构相匹配。数据证实了已报道的TNFRSF11A关联(rs4574025,P = 3.9×10-7,比值比[OR] 1.42),并鉴定了一个新的候选基因ZBTB10,实现了全基因组意义(rs6998967,P = 8.9×10-10,或0.53)。其他几个SNP也显示出提示意义,包括rs2476601(P = 6.5×10-6,或1.62),编码早发性重症肌无力(EOMG)和其他自身免疫性疾病中提到的PTPN22 R620W变体。相比之下,TNIP1中与EOMG相关的SNP在LOMG中未显示任何关联,也未建议对EOMG使用其他基因座。主要组织相容性复合物(MHC)区域内的许多SNP在LOMG中显示出很强的关联性,但其效应大小比EOMG小(在EOMG中,最高OR〜2对〜6)。此外,最强的关联与EOMG方向相反,包括LOMG中DQA1 * 05:01的OR为0.54(P = 5.9×10-12),而EOMG中为2.82(P = 3.86×10-45)。 MHC区域的关联和条件研究显示,LOMG的三个不同且基本独立的关联峰分别对应于(a)II类MHC(对DQA1进行条件调节时衰减最大),(b)HLA-A和(c)III类MHC SNP。人类白细胞抗原(HLA)氨基酸残基的条件研究也表明潜在的功能相关性。总之,这些发现强调了重症肌无力患者亚组在临床和基础研究中的价值,并暗示了LOMG的独特诱因机制。

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