The Variant rs2706682 at PITPNC1, Which Enhances Vehicular Secretion, Associated With Systemic Lupus Erythematosus Susceptibility in Chinese Populations.

Ruiying Duan, Yuanyuan Qi, Yangming Zhang, Tengyu Zhu, Chen Liu, Huimiao Hu, Jia Guo, ZhanZheng Zhao, Dahai Yu

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In one paragraph

Article in International journal of immunogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

9 authors.

Ruiying DuanNephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, China.

Yuanyuan QiNephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, China.

Yangming ZhangZhengzhou University, Zhengzhou, China.

Tengyu ZhuZhengzhou University, Zhengzhou, China.

Chen LiuNephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, China.

Huimiao HuNephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, China.

Jia GuoNephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, China.

ZhanZheng ZhaoNephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, China.

Dahai YuNephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan, China.

Funding

Cultivation of Clinical Medical Scientists in Henan Province S20240113Henan Province High-Level Talent Internationalization Development Program GCC2025052Henan Provincial Department of Science and Technology under the Henan Key Research and Development Special Project 251111313800Henan Provincial Project for Cultivating Middle-aged and Young Health Science and Technology Innovation Talents LJRC2025011Henan Provincial Talent Training Program for Young and Middle-aged Health and Wellness Science and Technology Innovation YQRC2024010National Science Foundation of China 82470752National Science Foundation of China 82574190Natural Science Foundation of Henan Province 242300421275

6 · The paper itself

Abstract

Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease in which genetic and environmental factors play important role in SLE pathogenesis. Recently, cytoplasmic phosphatidylinositol transfer protein 1 (PITPNC1) was reported to be capable of enhancing vesicular secretion, which was correlated with autoimmune disorders contributing to SLE. Here, we aimed to explore the genetic association between PITPNC1 polymorphisms and SLE susceptibility. The genetic association analysis included two cohorts: a discovery cohort (490 SLE cases vs. 493 healthy controls) and replication cohort (1003 SLE cases and 815 healthy controls). rSNPBASE, RegulomeDB databases, and Three-dimensional (3D) chromatin looping data were used for functional annotation, and luciferase reporter assay was performed for validation. The expression data from ArrayExpress were used for PITPNC1 gene expression analysis. Three variants (rs4239092, p = 3.04×10

Indexed as

Genetic Predisposition to DiseaseLupus Erythematosus, SystemicPhospholipid Transfer ProteinsPolymorphism, Single NucleotideAdultAllelesCase-Control StudiesChinaEast Asian PeopleFemaleGenetic Association StudiesGenotypeHumansMalePhospholipid Transfer ProteinsPITPNC1single nucleotide polymorphismssystemic lupus erythematosus

Identifiers

PMID42186263

DOI10.1111/iji.70056

PMCPMC13352099

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.