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@#AIM: To assess the association of vascular endothelial growth factor(VEGF)gene polymorphisms(rs2010963 and rs3025039)with diabetic retinopathy(DR)in Li nationality type 2 diabetic(T2DM)patients in Hainan.METHODS: Prospective study. A total of 89 patients with T2DM in the Li nationality in Hainan were randomly categorized(between 09/2016 to 10/2019)into three groups, 30 patients in nonproliferative diabetic retinopathy(NPDR)group, 33 patients in proliferative diabetic retinopathy(PDR)group, and 26 patients in T2DM without retinopathy(DWR)group as control. Polymerase chain reaction-restriction fragment length polymorphism method was used to determine the polymorphism in the VEGF gene. Differences in allele frequencies and genotype frequencies between cases and controls were compared. RESULTS: Compared with the DWR group, the CC genotype of rs2010963 polymorphic site was significantly increased(<i>P</i><0.016667), and CG genotype was significantly decreased in PDR group(<i>P</i><0.016667). No significant differences were detected in the frequencies of genotype GG and C, G allele distribution among the three groups(<i>P</i>>0.05). Meanwhile, no significant differences were detected in the frequencies of genotype CC, CT, C, and T in rs3025039 among the three groups(all <i>P</i>>0.05). Plasma levels of serum urea and creatinine were significantly increased in PDR group compared to DWR and NPDR groups in Li nationality group in Hainan(all <i>P</i><0.05).CONCLUSION: The polymorphism of the VEGF gene(rs2010963)is associated with DR. CC genotype may be a genetic risk factor for the development of DR, increasing susceptibility to PDR. The rs2010963 related genotype is conferred risk and associated with higher susceptibilities of PDR.
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Objective:To explore the value of single nucleotide polymorphism for molecular warning of hypertensive intracerebral hemorrhage in Li Nationality in Hainan.Methods:Totally 56 patients with hypertensive intracerebral hemorrhage of Li Nationality in Hainan Province, 100 healthy controls of Li nationality and 203 healthy controls of Han nationality in Hainan Province from January 2019 to October 2020 were selected as the research subjects.After genomic DNA was extracted, rs2494739, rs2494744 and rs2498794 of AKT1 gene were genotyped and analyzed by SPSS 25.0 to explore the differences between Han and Li Nationality, and between Li healthy population and intracerebral hemorrhage population.Results:There was no difference in the frequencies of rs2498794, rs2494739 and rs2494744 polymorphisms of AKT1 gene among Han and Li healthy controls ( P>0.05). The rates of AA, AG and GG at rs2498794 locus in Li Nationality patients with intracerebral hemorrhage (14.28%, 39.29% and 46.43%) were significantly different from those of Li control group (44.00%, 47.00% and 9.00%)( P<0.05). The distribution rates of AA, AG and GG of rs2494744 in Li Nationlity patients with intracerebral hemorrhage were 57.14%, 37.50% and 5.36%, respectively, which were statistically significant compared with the control group (20.00%, 44.00% and 36.00%) ( P<0.05). The incidence of CC, CT and TT at rs2494739 locus in Hainan Li Nationality patients were 14.28%, 46.43% and 39.29% respectively, which were also significantly different from those in Li control group(34.00%, 41.00% and 25.00%) ( P<0.05). The incidence of rs2494744-A in intracerebral hemorrhage group (75.89%) was much higher than that in Li control group (42.00%), and the OR value of rs2494744-A was 4.35.The incidence of rs2498794-G in intracerebral hemorrhage group and control group were 66.07% and 32.50%, respectively, and the OR was 4.04.Alleles rs2494744-A and rs2498794-G were moderately associated with the incidence of intracerebral hemorrhage ( P<0.05). Conclusion:rs2494744-AA, rs2498794-GG and alleles rs2494744-A and rs2498794-G are the risk factors of HICH in Li nationality, which is of great value to the construction of its molecular early warning system.
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Objective To investigate the genetic diversity of MICA, and to analyze the correlation between genetic polymorphisms of MICA and T1DM in population of Han and Li nationalities in Hainan province.Methods This study was performed as a case-control study.Fifty-five individuals with T1DM and Fifty-five healthy controls of Han and Li nationalities from Wuzhishan, Lingshui, Qiongzhong, Baisha, Ledong,Changjiang, Dongfang and Haikou regions in Hainan province(35 Male,20 Female of T1DM of Han;28 Male,27 Female of healthy controls of Han; 33 Male,22 Female of T1DM of Li; 28 Male, 27 Female of healthy controls of Li), were enrolled for the study.MICA allelic variation was analyzed by sequencing-based typing(PCR-SBT).Fisher′s exact test was performed to determine the statistical significance of the distribution and allele frequency of MICA.Results In healthy population,11 MICA-sequence and 5 MICA-STR alleles were found in Han nationality, while 13 MICA-sequence and 5 MICA-STR alleles were detected in Li nationality.The MICA-sequence allele MICA*008:01 and the MICA-STR allele MICA-A5 were most frequently observed in Han nationality[30.85%(29/94)and 41.49%(39/94), respectively],while MICA*002:01 and A4 were the most common in Li nationality[21.57%(22/102) and 36%(36/100), respectively].Among patients with T1DM, 10 MICA-sequence and 5 MICA-STR alleles were detected in Han, and 9 MICA-sequence and 5 MICA-STR alleles were found in Li.MICA*002:01 and A9 were most frequently observed in Han[29%(29/100),29.29%(29/99),respectively], while MICA*012:01, MICA*002:01 and the A4 were the most common in Li[21.15%(22/104), 21.15%(22/104),38.24%(39/102), respectively].The allelic frequency of MICA*002:01, MICA*010, MICA-A5, MICA-A6 and MICA-A9 between the healthy population and T 1DM patients of Han nationality(5.32%,22.34%,41.49 %,9.58%,6.38%, respectively in healthy population;29%,7%, 26.26%,2.02%,29.29%, respectively in T1DM patients), exist significant difference(χ2value were 18.799,9.233,5.218,5.197,16.762, respectively.P value were 0.000,0.002, 0.025,0.024,0.000, respectively.all P<0.05),while no significant difference(all P>0.05)between the healthy population and T1DM patients of Li nationality.Conclusions The most common MICA alleles were MICA*008:01 and MICA-A5 in healthy population of Han nationality, while MICA*002:01 and MICA-A4 in healthy population of Li nationality.MICA*002:01 and MICA-A9 were high frequency in T1DM patients of Han population,while the MICA*010,MICA-A5 and MICA-A6 were low frequency.There was not any MICA alleles associated with T1DM in Li nationality.