Ma Yunqing, Mayes Maureen D, Guo Xinjian, Assassi Shervin, Zhou Xiaodong
Department of Internal Clinical Medicine, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, China.
Internal Medicine/Rheumatology, University of Texas Health Science Center at Houston, Houston, 77030, USA.
Sci Rep. 2024 Dec 28;14(1):31068. doi: 10.1038/s41598-024-82298-7.
This study aimed to examine whether a reported SSc-associated SNP rs2841277 in the PLD4 gene identified in an Asian population was also associated with SSc in European American (EA). The EA cohort consisting of 1005 SSc patients and 961 healthy controls was examined in this study. TaqMan genotyping assays were performed to examine the SNP. Exact P-values were obtained from 2 × 2 tables of allele counts and disease status. In contrast to the previous reports in a Japanese population, SSc patients of EA did not show an association of PLD4 rs2841277 with SSc in general (P = 0.231, OR = 0.89, 95% CI = 0.73-1.08), or with clinical subtypes of dcSSc (P = 0.302, OR = 0.86, 95% CI = 0.65-1.13) and lcSSc (P = 0.369, OR = 0.90, 95% CI = 0.72-1.12), or with autoantibody subtypes including ATA (P = 0.126, OR = 0.74, 95% CI = 0.51-1.08), ACA (P = 0.943, OR = 1.01, 95% CI = 0.77-1.34), ARP3 (P = 0.155, OR = 0.77, 95% CI = 0.53-1.1), or Anti-RNP (P = 0.660, OR = 0.73, 95% CI = 0.29-1.84). We found a lack of association of the PLD4 SNP rs2841277 with SSc in an EA population. This is the first study to report a discrepancy in the genetic association between the PLD4 SNP and SSc. This may be explained by genetic heterogeneity between Japanese and EA populations, with genetic ancestry contributing to this variation. Further verification in diverse ancestral populations is warranted.
本研究旨在检验在亚洲人群中鉴定出的PLD4基因中一个报道的与系统性硬化症（SSc）相关的单核苷酸多态性（SNP）rs2841277在欧美人群（EA）中是否也与SSc相关。本研究检测了由1005例SSc患者和961例健康对照组成的EA队列。采用TaqMan基因分型检测法检测该SNP。精确的P值从等位基因计数和疾病状态的2×2表中获得。与之前在日本人群中的报道相反，EA的SSc患者总体上未显示PLD4 rs2841277与SSc相关（P = 0.231，比值比[OR]=0.89，95%可信区间[CI]=0.73 - 1.08），与弥漫性皮肤型SSc（dcSSc）临床亚型（P = 0.302，OR = 0.86，95% CI = 0.65 - 1.13）和局限性皮肤型SSc（lcSSc）临床亚型（P = 0.369，OR = 0.90，95% CI = 0.72 - 1.12）均无关，与包括抗拓扑异构酶I（ATA）（P = 0.126，OR = 0.74，95% CI = 0.51 - 1.08）、抗着丝点抗体（ACA）（P = 0.943，OR = 1.01，95% CI = 0.77 - 1.34）、抗RNA多聚酶III（ARP3）（P = 0.155，OR = 0.77，95% CI = 0.53 - 1.1）或抗核糖核蛋白抗体（Anti - RNP）（P = 0.660，OR = 0.73，95% CI = 0.29 - 1.84）在内的自身抗体亚型也无关。我们发现EA人群中PLD4 SNP rs2841277与SSc缺乏相关性。这是第一项报道PLD4 SNP与SSc之间遗传关联存在差异的研究。这可能是由于日本人群和EA人群之间的遗传异质性，遗传血统导致了这种差异。有必要在不同祖先人群中进行进一步验证。
