PMID- 34512895
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210914
IS  - 1948-9358 (Print)
IS  - 1948-9358 (Electronic)
IS  - 1948-9358 (Linking)
VI  - 12
IP  - 8
DP  - 2021 Aug 15
TI  - Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in 
      China.
PG  - 1304-1311
LID - 10.4239/wjd.v12.i8.1304 [doi]
AB  - BACKGROUND: It has been reported that vascular endothelial growth factor (VEGF) 
      is a susceptibility gene for both type 2 diabetes mellitus (T2DM) and diabetic 
      retinopathy (DR). In response to hypoxia, VEGF mRNA levels are increased, which 
      is mainly mediated by the binding of hypoxia-inducible factor-1 (HIF-1) and 
      hypoxia response element upstream of the transcriptional start site of VEGF. 
      Therefore, HIF-1a is supposed to be involved in pathology of DR. AIM: To 
      investigate whether the polymorphisms in HIF-1a gene are associated with DR. 
      METHODS: Two hundred and ninety-nine type 2 diabetic patients (128 males and 171 
      females) and 144 healthy volunteers were recruited. Mean age was 56.04 +/- 21.05 
      years. According to the results of fundus fluorescein angiography and examination 
      of ophthalmoscopy, patients were divided into two groups, DNR group (diabetes 
      without retinopathy) and DR group (diabetes with retinopathy). There are 150 
      cases in DNR group and 149 cases in DR group. Two single nucleotide polymorphisms 
      (SNP) of the HIF-1a gene were tested using matrix-assisted laser 
      desorption/Ionization time of flight mass spectrometry. The frequency of 
      genotypes and alleles, and odds ratio were measured. RESULTS: The mean age of the 
      cases with diabetes was 55.84 +/- 3.66 years, the mean age of the cases with DR was 
      55.97 +/- 4.66 years and that of controls was 56.32 +/- 4.70 years. Two variations 
      were found in 76 patients. Rs11549465 is the change of C-T base, rs11549467 is 
      the change of G-A base. The rs11549467 G/A genotype was 5.33% in diabetes and 
      6.04% in DR patients, respectively. The rs11549465 C/T genotype was 10% and 
      12.75% in patients with diabetes and DR. The rs11549467 A allele frequencies and 
      rs11549465 T frequencies was similar to that of controls. Paired SNP linkage 
      disequilibrium analysis indicated that rs11549467 was in linkage disequilibrium 
      with rs11549465. Haplotype association analysis denoted that the haplotype 
      association exhibited similar distribution in the patients compared to the normal 
      controls. CONCLUSION: This study suggests that there is no relationship between 
      the genetic variations of HIF1a and diabetes or DR.
CI  - (c)The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights 
      reserved.
FAU - Liu, Yue-Hong
AU  - Liu YH
AD  - Department of Endocrinology, Hainan Cancer Hospital, Haikou 570312, Hainan 
      Province, China.
FAU - Guo, Chang
AU  - Guo C
AD  - Department of Endocrinology, Shenzhen University General Hospital, Shenzhen 
      518055,Guangdong Province, China.
FAU - Sun, Yi-Qiong
AU  - Sun YQ
AD  - Department of Endocrinology, Shenzhen University General Hospital, Shenzhen 
      518055,Guangdong Province, China.
FAU - Li, Qiang
AU  - Li Q
AD  - Department of Endocrinology, Shenzhen University General Hospital, Shenzhen 
      518055,Guangdong Province, China. qianglisz@163.com.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - World J Diabetes
JT  - World journal of diabetes
JID - 101547524
PMC - PMC8394233
OTO - NOTNLM
OT  - Diabetes
OT  - Diabetic retinopathy
OT  - HIF1a
OT  - Mutation
OT  - Single nucleotide polymorphisms
OT  - Vascular endothelial growth factor
COIS- Conflict-of-interest statement: The authors declare no competing interests.
EDAT- 2021/09/14 06:00
MHDA- 2021/09/14 06:01
PMCR- 2021/08/15
CRDT- 2021/09/13 06:47
PHST- 2021/02/23 00:00 [received]
PHST- 2021/04/09 00:00 [revised]
PHST- 2021/07/12 00:00 [accepted]
PHST- 2021/09/13 06:47 [entrez]
PHST- 2021/09/14 06:00 [pubmed]
PHST- 2021/09/14 06:01 [medline]
PHST- 2021/08/15 00:00 [pmc-release]
AID - 10.4239/wjd.v12.i8.1304 [doi]
PST - ppublish
SO  - World J Diabetes. 2021 Aug 15;12(8):1304-1311. doi: 10.4239/wjd.v12.i8.1304.