Evidence map›Paper›PMID 40768184›Full record

ArticleJournal of endocrinological investigation2025

The genetic polymorphism of XPR1 associated with Fanconi syndrome in Chinese patients with X-linked hypophosphatemia.

Sirui Han, Xiang Li, Wei Liu, Yue Chi, Ruizhi Jiajue, Ziyao Fu, Qianqian Pang, Ou Wang, Mei Li, Xiaoping Xing and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of endocrinological investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Sirui HanDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Xiang LiDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Wei LiuDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Yue ChiDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Ruizhi JiajueDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Ziyao FuDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Qianqian PangDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Ou WangDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Mei LiDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Xiaoping XingDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China.
Yan JiangDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China. sinojenny@126.com.ORCID http://orcid.org/0000-0003-4434-3462
Weibo XiaDepartment of Endocrinology, Key Laboratory of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences, Dongcheng District, Shuaifuyuan No.1, Wangfujing Street, Beijing, 100730, China. xiaweibo8301@163.com.ORCID http://orcid.org/0000-0001-7768-5536

Funding

Beijing Natural Science Foundation 7232120National High Level Hospital Clinical Research Funding 2022-PUMCH-B-014，2022PUMCH-D-006National Natural Science Foundation of China 82270938
6 · The paper itself

Abstract

purposeX-linked hypophosphatemia (XLH) is the most common type of hereditary hypophosphatemic rickets caused by elevated fibroblast growth factor 23 (FGF23). Multiple cases have reported XLH had Fanconi syndrome (FS) with unidentified mechanism. We investigated the association between genetic polymorphisms of phosphate transporters in renal proximal tubules and XLH with FS for the first time.

methods25 Chinese XLH patients with FS (XLH-FS) and 33 patients without any urine abnormalities (XLH-nonFS) were included. We collected their clinical manifestations and laboratory results, screened the single-nucleotide polymorphisms (SNPs) of XPR1, SLC34A1 and SLC34A3 by a next generation sequencing-based method, and analyzed the correlation between SNPs and XLH with FS. Computational predictions identified microRNAs (miRNAs) targeting SNPs that influenced susceptibility of FS, and confirmed their interaction and impact on gene expression by a dual-luciferase reporter system.

resultsXLH-FS group had a higher proportion of trouble walking (88.0% vs 51.5%, p = 0.003). Among the 17 SNPs, rs10494535 located within 3'-UTR region of XPR1 showed significant difference between the two groups. TT/CT genotype and T allele increased susceptibility of FS. Lower luciferase activities were observed in dual-luciferase reporter gene assay as rs10494535 T allele and rs148196667 C allele binding with miRNAs respectively, which implied decreases in XPR1 expression.

conclusionXLH with FS had greater mobility difficulties. The genetic polymorphism of XPR1 was associated with FS in XLH patients. Susceptibility of FS in XLH patients was possibly related to the decrease expression of XPR1 due to the interaction between SNPs and miRNAs.

Indexed as

Familial Hypophosphatemic RicketsFanconi SyndromePolymorphism, Single NucleotideAdolescentAdultCase-Control StudiesChildChild, PreschoolChinaEast Asian PeopleFemaleFibroblast Growth Factor-23Genetic Predisposition to DiseaseHumansMaleMicroRNAsFGF23 protein, humanFibroblast Growth Factor-23MicroRNAsSLC34A1 protein, humanSLC34A3 protein, humanSodium-Phosphate Cotransporter Proteins, Type IIaSodium-Phosphate Cotransporter Proteins, Type IIcXenotropic and Polytropic Retrovirus ReceptorXPR1 protein, humanFanconi syndromeMicroRNASingle-nucleotide polymorphismsX-linked hypophosphatemiaXPR1

Identifiers

PMID40768184

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.