Evidence map›Paper›PMID 32725396›Full record

ArticleJournal of endocrinological investigation2021

The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia.

Y Jiang, X Li, J Feng, M Li, O Wang, X-P Xing, W-B Xia

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of endocrinological investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 42% of its field
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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. 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

7 authors at 1 institution in 1 country.

Y JiangDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China. sinojenny@126.com.ORCID http://orcid.org/0000-0003-4434-3462
X LiDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
J FengDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
M LiDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
O WangDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
X-P XingDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
W-B XiaDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China. xiaweibo8301@163.com.
Chinese Academy of Medical Sciences & Peking Union Medical College · CN

Funding

13th Five-Year National Science and Technology Major Project for New Drugs 2019ZX09734001CAMS Innovation Fund for Medical Sciences 2016-I2M-3-003National Key R&D Program of China 2018YFA0800801National Natural Science Foundation of China 81970757Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences 2017PT32020Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences 2018PT32001
6 · The paper itself

Abstract

purposeTumor-induced osteomalacia (TIO) is an acquired form of hypophosphatemia caused by tumors with excess production of fibroblast growth factor 23 (FGF23). Some reports showed that TIO patients had renal Fanconi syndrome (FS) with unidentified mechanism. In this study, we investigated the association between genetic polymorphisms of phosphate transporters in renal proximal tubules and TIO with FS.

methodsWe recruited 30 TIO patients with FS (TIO-FS) as well as 30 TIO patients (TIO-nonFS) without any urine abnormalities matched by age and gender. We collected clinical manifestations and conducted targeted sequencing of SLC34A1, SLC34A3 and XPR1 genes and the association analysis between variants in TIO with FS and phenotypes.

resultsTIO-FS group had lower levels of serum phosphate (0.44 ± 0.12 vs. 0.51 ± 0.07 mmol/L, p < 0.05) than TIO-nonFS group. Among the 16 SNPs in SLC34A1, SLC34A3 and XPR1 genes, GG/GC genotypes of rs148196667 in XPR1 and AA/TA genotypes of rs35535797 in SLC34A3 were associated with a reduced susceptibility to have FS. The G allele of rs148196667 in XPR1 decreased the risk of FS. The GGAA haplotype in SLC34A3 and GCT haplotype in XPR1 were associated with a decreased risk for FS.

conclusionsThe polymorphisms of XPR1 and SCL34A3 are associated with TIO patients with Fanconi syndrome. It provides novel insight to the relationship of phosphate transportation and general functions of renal proximal tubules.

Indexed as

Fanconi SyndromeAdultChinaFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsHumansHypophosphatemiaKidney Tubules, ProximalMaleOsteomalaciaParaneoplastic SyndromesPhosphatesPolymorphism, GeneticReceptors, G-Protein-CoupledReceptors, VirusFGF23 protein, humanFibroblast Growth Factor-23Fibroblast Growth FactorsPhosphatesReceptors, G-Protein-CoupledReceptors, VirusSLC34A3 protein, humanSodium-Phosphate Cotransporter Proteins, Type IIcXenotropic and Polytropic Retrovirus ReceptorXPR1 protein, humanFanconi syndromeFibroblast growth factor 23GeneticsSLC34A3Tumor-induced osteomalaciaXPR1

Identifiers

PMID32725396
OpenAlexW3046065613

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.