希腊患者队列中[基因名称]和[基因名称]多态性与结节病的关联。 （注：原文中两个“and”之间缺少具体基因信息）
Association of and polymorphisms with sarcoidosis in a Greek patient cohort.
作者信息
Martinou Maria, Katifelis Hector, Gialafos Elias, Atliev Kiril Todorov, Papiris Spiridon, Gazouli Maria
机构信息
Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
First Department of Neurology, Medical School, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
出版信息
Arch Med Sci. 2022 Oct 16;19(3):672-677. doi: 10.5114/aoms/154019. eCollection 2023.
INTRODUCTION
Sarcoidosis is a disease that results from a combination of environmental and genetic factors. Its genetic basis however, is yet to be clarified. The purpose of this study is to determine whether single nucleotide polymorphisms (SNPs) of the B-cell activating factor () and its receptor () are associated with sarcoidosis.
MATERIAL AND METHODS
Blood samples from one hundred and seventy-three sarcoidosis patients and one hundred and sixty-four controls were collected. All samples were genotyped for rs2893321, rs1041569 and rs9514828, and for rs61756766.
RESULTS
Out of the three polymorphisms, none genotype had any significant association with sarcoidosis, although the T allele in rs1041569 and rs9514828 was overrepresented in sarcoidosis patients. A marginally significant association with sarcoidosis was found in the case of the CT genotype and T allele of rs61756766. Haplotype analysis of the polymorphisms was also performed, revealing an overrepresentation of the ATT, GTA and GTT haplotypes in the group of patients with cardiac involvement.
CONCLUSIONS
Taken together, the results of this study suggest a possible relationship between SNPs, rs1041569 and rs9514828, and SNP rs61756766 with sarcoidosis susceptibility and their potential as biomarkers for the disease.
引言
结节病是一种由环境和遗传因素共同作用导致的疾病。然而，其遗传基础尚未明确。本研究的目的是确定B细胞活化因子（BAFF）及其受体（BAFF-R）的单核苷酸多态性（SNP）是否与结节病相关。
材料与方法
收集了173例结节病患者和164例对照的血样。对所有样本进行rs2893321、rs1041569和rs9514828的基因分型，以及rs61756766的基因分型。
结果
在这三种BAFF多态性中，没有一种基因型与结节病有显著关联，尽管rs1041569和rs9514828中的T等位基因在结节病患者中占比过高。在rs61756766的CT基因型和T等位基因与结节病之间发现了微弱的显著关联。还对BAFF多态性进行了单倍型分析，结果显示在有心脏受累的患者组中，ATT、GTA和GTT单倍型占比过高。
结论
综上所述，本研究结果表明BAFF的SNP rs1041569和rs9514828以及BAFF-R的SNP rs61756766与结节病易感性之间可能存在关联，以及它们作为该疾病生物标志物 的潜力。
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