Association of candidate genes (ALR2, RAGE, and VEGF) polymorphisms with diabetic retinopathy in type 2 diabetic patients of Khyber Pakhtunkhwa, Pakistan

Jehanzeb, Mamoona; Khan, Najeeb Ullah; Hussain, Mahfooz; Subrina, Jesmin; Ayub, Shahid; Mustafa, Adeela

doi:10.1007/s11033-022-08057-x

Cited by 6 publications

(5 citation statements)

References 28 publications

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“…The genotype frequency of VEGF-460C/T locus in both PDR and NPDR was reported in five records [23,[26][27][28][29]. Subgroup analysis based on DR status indicated that VEGF-460C/T polymorphism was associated with an increased risk of PDR under the allelic (OR = 1.29, p = 0.014), recessive (OR = 1.48, p = 0.024), and homozygous (OR = 1.73, p = 0.018) gene models, as compared to NPDR (▶table 2).…”

Section: Results Of Subgroup Analysesmentioning

confidence: 99%

“…Relevant documents were retrieved based on the predetermined search strategy. Following the screening process, a total of 8 articles were ultimately included [22][23][24][25][26][27][28][29]. The overall number of patients with DR was 1463, including 436 cases of NPDR, 688 cases of PDR, and 339 cases without typing; the number of controls was 1310.…”

Section: Process Of Literature Screening and Characteristics Of Inclu...mentioning

confidence: 99%

“…We conducted a sensitivity analysis of the combined results of 6 papers with genotype frequency satisfying HWE in the control group. The results showed that in allelic, dominant, recessive and homozygous models, the conclusions were significantly changed after 5 [22,24,25,28,29], 1 [26], 4 [22,24,25,28], and 5 [22,24,25,28,29] articles were removed, respectively (▶ Fig. 2b, ▶Fig.…”

Section: Sensitivity Analysismentioning

confidence: 99%

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Association Between VEGF-460C/T Gene Polymorphism and Risk of Diabetic Retinopathy in Type 2 Diabetes Mellitus: A Meta-Analysis

Cheng,

Wu,

Zhou

2023

Horm Metab Res

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To investigate the relationship between VEGF-460C/T polymorphism and susceptibility to diabetic retinopathy (DR) in type 2 diabetes mellitus (T2DM) by meta-analysis. A comprehensive search was conducted across six databases until September 2023 to identify studies examining the association between VEGF-460C/T polymorphism and susceptibility to DR. Data process was performed by Stata 15.0 software. Eight studies were included, involving 1463 patients with DR. In the overall analysis, the difference was statistically significant only in the homozygous model (CC vs. TT: OR=1.86, p=0.048). A subgroup analysis of 6 papers with genotype frequency satisfying HWE in the control group indicated that significant differences under the allele (C vs. T: OR= 1.34, p= 0.037), recessive (CC vs. CT+TT: OR= 1.96, p= 0.022) and Homozygous (CC vs. TT: OR= 2.28, p= 0.015) models. However, in the dominant and heterozygous models, the difference was not statistically significant. The sensitivity of the HWE-based subgroup analysis showed that the conclusions in other gene models except the heterozygote model were not robust. This meta-analysis indicated that VEGF-460C/T gene polymorphism is associated with susceptibility to DR in T2DM. Allele C and genotype CC at the VEGF-460C/T locus are associated with an increased risk of DR in T2DM. However, considering that the results are not robust, more trials involving more rigorous design are needed to verify the findings of this review in the future.

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Section: Results Of Subgroup Analysesmentioning

confidence: 99%

Section: Process Of Literature Screening and Characteristics Of Inclu...mentioning

confidence: 99%

Section: Sensitivity Analysismentioning

confidence: 99%

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Association Between VEGF-460C/T Gene Polymorphism and Risk of Diabetic Retinopathy in Type 2 Diabetes Mellitus: A Meta-Analysis

Cheng,

Wu,

Zhou

2023

Horm Metab Res

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“…In line to our findings, a study conducted on Jordanian diabetic patients showed no correlation between CT/TT genotypes and the severity of DR. 2 Another study also revealed no association between ALR2 C106T polymorphism and risk of DR in Pakistani T2DM pateints but showed association with risk of T2DM compared with healthy control group. 25 A recent meta‐analysis study conducted in 2020 showed a significant association between the ALR2 C106T polymorphism and DR susceptibility. In that study, subgroup analysis stratified by DM type and ethnicity showed increased susceptibility for DR in East Asian populations and Middle Eastern populations among T1DM not T2DM patients.…”

Section: Discussionmentioning

confidence: 99%

Aldose reductase (−106) C/T gene polymorphism and associated risk factors with proliferative diabetic retinopathy in Palestine: A cross sectional study

Ereqat,

Abdelhafez,

Iriqat

et al. 2023

Health Science Reports

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Background and AimsGenetic variants play a crucial role in the development of diabetic retinopathy (DR). Therefore, our study aimed to investigate the relationship between aldose reductase (ALR2) (C106T) polymorphism with proliferative DR and associated risk factors in Palestinian type 2 diabetic patients.MethodsA cross sectional study was conducted at St John Eye Hospital‐East Jerusalem in 2020−2021 on patients with DR. All subjects had fundus examination by ophthalmologists and classified according to the severity of retinopathy. Genomic DNA was extracted from whole blood samples and genotyped by amplicon based next generation sequencing.ResultsA total of 155 patients were included, of them, 103 (66.5%) were diagnosed with non‐proliferative DR (NPDR) and 52 (33.5%) with proliferative DR (PDR). The PDR group had a significantly lower median age (59.5 [IQR: 13.3]) compared to the NPDR group (62 [IQR: 11.5]) (p = 0.04). Additionally, the duration of diabetes was higher in the PDR group (20 [IQR: 9]) compared to the NPDR group (15 [IQR: 10]) (p < 0.001). Conversely, the mean value of diastolic blood pressure was significantly lower in the PDR group (79.2 ± 11.1) compared to the NPDR group (83.4 ± 10.3) (p = 0.02). Logistic regression analysis, revealed that the odds for patients with dyslipidemia to develop PDR were 2.74 times higher than those with NPDR (95% CI: 1.08−6.98) (p = 0.034). Furthermore, the probability of a patient with ≥20 years of diabetes to develop PDR was seven times higher than other patients (95% CI: 1.98−27.91) (p = 0.003). The genotypes distribution of ALR2 gene and its allele frequency showed no statistical differences between the two groups (p > 0.05).ConclusionsThe present study showed that duration of diabetes and dyslipidemia were strong indicators for PDR progression, while ALR2 (C106T) polymorphism was not associated with severity of DR.

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“…The extraction of Genomic DNA from obtained blood samples of both RA cases and healthy individuals were performed using salting out/nonenzymatic method already adopted in our lab [43][44][45]. Furthermore, sequence speci c primers were designed for selected Alleles using NCBI primer Blast software (Table 1).…”

Section: Dna Extraction and Primer Designingmentioning

confidence: 99%

Genetic risk assessment of HLA DRB1 alleles (01, 04, 12 and 15) with Rheumatoid arthritis susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

Ilahi,

Khan,

Khan

et al. 2024

Preprint

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Background: Rheumatoid arthritis (RA) is a chronic autoimmune condition influenced by a complex interplay of genetic and environmental factors. Specific genetic variations, particularly in the human leukocyte antigen (HLA)-DRB1 gene, have been strongly linked to RA susceptibility. HLA-DRB1 alleles, part of the major histocompatibility complex (MHC) class II gene family, play a significant role in the immune system. Aims: This study aimed to investigate the association between HLA-DRB1*01, *04, *12, and *15 alleles and RA risk within the Pashtun population of Pakistan. Methods: A cohort of 100 RA patients and 80 healthy controls was recruited for this study. DNA was isolated from blood samples using the salting-out method, followed by genotyping using sequence-specific primer polymerase chain reaction (SSP-PCR). The association of the selected alleles with clinicopathological and demographic parameters of RA was assessed using the Medcalc odds ratio calculator and Chi-square test. Results: Allelic and genotypic analysis revealed that HLA-DRB1 *01 and *04 variants exhibited non-significant associations with RA risk (P=0.1421 and 0.8495, respectively). Similarly, mutant genotypes of HLA-DRB1 *01 and *04 showed non-significant associations with RA (P=0.2922 and P=0.8263, respectively). However, the heterozygous CA genotype of HLA-DRB1 *01 demonstrated a significant association with RA (P=0.0004), whereas HLA-DRB1 *04 did not (P=0.9120). Furthermore, HLA-DRB1 *12 showed a significant association with increased RA risk (P=0.0001), while HLA-DRB1 *15 did not (P=0.5519). Additionally, HLA-DRB1*01, *04, and *12 did not show significant associations with age group (P=0.08, P=0.11, P=0.16) and rheumatoid factor (RF) status (P=0.34, P=0.65, and P=0.74), whereas HLA-DRB1 *15 exhibited non-significant associations with age group and RF (P=0.01 each). Moreover, associations of HLA-DRB1 *01, *04, *12, and *15 with gender (P=0.81, P=0.52, P=0.27, and P=0.09, respectively) and anti-citrullinated protein antibody (ACPA) status (P=0.56, P=0.40, P=0.65, and P=0.008, respectively) were not significant, except for HLA-DRB1 *04, which displayed a significant association with ACPA. Conclusion: HLA-DRB1 *12 and heterozygous genotypes of HLA-DRB1 *01 were significantly associated with RA risk in the Pashtun population. However, further analysis utilizing whole exome sequencing with larger datasets is warranted for more precise results.

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Association of candidate genes (ALR2, RAGE, and VEGF) polymorphisms with diabetic retinopathy in type 2 diabetic patients of Khyber Pakhtunkhwa, Pakistan

Cited by 6 publications

References 28 publications

Association Between VEGF-460C/T Gene Polymorphism and Risk of Diabetic Retinopathy in Type 2 Diabetes Mellitus: A Meta-Analysis

Association Between VEGF-460C/T Gene Polymorphism and Risk of Diabetic Retinopathy in Type 2 Diabetes Mellitus: A Meta-Analysis

Aldose reductase (−106) C/T gene polymorphism and associated risk factors with proliferative diabetic retinopathy in Palestine: A cross sectional study

Genetic risk assessment of HLA DRB1 alleles (01, 04, 12 and 15) with Rheumatoid arthritis susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

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