rs1870377

This is a variant in the KDR gene that changes a glutamine to an histidine.

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ClinVar annotation

Benign
3 submitters1 publication

KDR-related disorder; not specified

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Research that mentions this SNP (4)

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Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament ruptures
ReviewN=9,720Mary‐Jessica N. Laguette et al.(2020)· Journal of Orthopaedic Research

This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.

Traits studied:Anterior cruciate ligament injury (ACLI)Anterior cruciate ligament rupture (ACLR)
PubMedDOIMetascience Observatory
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Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
AssociationN=570Fengyu Wang et al.(2016)· Pediatric Cardiology

Case-control study of 277 Chinese CHD patients and 293 controls examining 29 SNPs in NFATC1 signaling pathway genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6, ZNRD1). After Bonferroni correction, rs4531631 (RANKL) showed significant association with increased CHD risk (homozygous AA vs. GG: OR 2.38, p=0.001; recessive: OR 2.54, p=0.0003), as did rs13317 (FGFR1) (recessive CC vs. CT/TT: OR 2.06, p=0.00196). Authors suggest these variants may be potential biomarkers for genetic diagnosis and treatment of CHD.

Traits studied:Atrial Septal DefectCongenital Heart DiseaseTetralogy of FallotVentricular Septal Defect
PubMedDOIMetascience Observatory
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Evaluation of polymorphisms in angiogenesis-related genes as predictive and prognostic markers for sunitinib-treated metastatic renal cell carcinoma patients
AssociationN=121Juana Dornbusch et al.(2016)· Journal of Cancer Research and Clinical Oncology

This retrospective cohort study of 121 metastatic renal cell carcinoma (mRCC) patients treated with sunitinib evaluated 10 SNPs in angiogenesis-related genes (VEGFA, VEGFR1, VEGFR2, VEGFR3) as prognostic markers. Kaplan-Meier and Cox regression analyses identified rs9582036 in VEGFR1 (AA/AC genotypes vs CC wild-type) as significantly associated with improved overall survival (HR=0.241, p=0.018), while rs699947 in VEGFA showed associations with progression-free survival. No significant associations were found between SNPs and sunitinib-induced adverse effects (hand-foot syndrome, hypertension) after multiple testing correction.

Traits studied:hand-foot syndromehypertensionmetastatic renal cell carcinoma (mRCC)overall survivalprogression-free survivalsunitinib response
PubMedDOIMetascience Observatory
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Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations
AssociationN=890Colleen J. Saunders et al.(2013)· Journal of Orthopaedic Research

PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.

Traits studied:ACL ruptureAnterior cruciate ligament injuryNon-contact ACL injury
PubMedDOIMetascience Observatory

About KDR

Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]

View all KDR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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