Evidence map›Paper›PMID 31066235›Full record

ArticleMolecular genetics & genomic medicine2019

Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan.

Xue He, Mei Bai, Ming Liu, Li Wang, Yongjun He, Hao Rong, Dongya Yuan, Tianbo Jin

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Association ofOpen medicine (Warsaw, Poland) · 2024
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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

8 authors at 2 institutions in 2 countries.

Xue HeKey Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Mei BaiKey Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Ming LiuDepartment of gynaecology and obstetrics, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Li WangKey Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Yongjun HeKey Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Hao RongKey Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Dongya YuanKey Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.ORCID 0000-0002-3480-5283
Tianbo JinKey Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Xizang Minzu University · CNOkayama Prefecture · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKashin-Beck Disease (KBD) is a chronic, endemic osteoarthropathy. Inositol 1,4,5-triphosphate receptor type 2 (ITPR2) gene is involved in chondrocytes. We speculated that single-nucleotide polymorphisms (SNPs) in ITPR2 gene may have an association with KBD in Tibetan.

methodsTo prove this hypothesis, a total of eight SNPs (rs1049376, rs11048526, rs11048556, rs11048585, rs16931011, rs10842759, rs2230372, and rs7134213) were selected, and genotyped in 316 KBD patients and 320 controls. The association between ITPR2 variants and KBD risk was assessed by logistic regression analysis.

resultsThe study identified significant association (p = 0.019) between KBD and a novel locus, ITPR2 SNP rs11048526 (OR = 1.49, 95% CI = 1.07-2.08). The variant A/G genotype frequency in rs11048526 had a significantly increased risk of KBD in co-dominant model (OR = 3.70, 95% CI = 1.26-10.89, p = 0.018), dominant model (OR = 3.56, 95% CI = 1.22-10.40, p = 0.020), log-additive model (OR = 3.00, 95% CI = 1.12-8.00, p = 0.029) after adjusted for age and gender.

conclusionThe results indicate a potential association between ITPR2 and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects.

Indexed as

AdultAgedAllelesAsian PeopleCase-Control StudiesDatabases, GeneticFemaleGenome-Wide Association StudyGenotypeHumansInositol 1,4,5-Trisphosphate ReceptorsKashin-Beck DiseaseLogistic ModelsMaleMiddle AgedOdds RatioInositol 1,4,5-Trisphosphate ReceptorsITPR2 protein, humancase-control studyITPR2Kashin-Beck DiseaseSingle-nucleotide polymorphismsTibetan

Identifiers

PMID31066235
PMCPMC6625103
OpenAlexW2943985195

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