The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review
This umbrella review was conducted aiming to assess the association between genetic variations and the development of diabetic retinopathy (DR) by collecting and evaluating available systematic reviews and meta-analysis results. We evaluated the methodological quality using the Measurement Tool to A...
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| Format: | Article |
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The Japan Endocrine Society
2024-09-01
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| Series: | Endocrine Journal |
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| Online Access: | https://www.jstage.jst.go.jp/article/endocrj/71/9/71_EJ23-0564/_html/-char/en |
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| author | Shaofen Huang Yonghui Feng Ying Sun Jiazi Liu Pu Wang Jingrong Yu Xin Su Shasha Han Shiqi Huang Haokun Huang Shiyun Chen Ying Xu Fangfang Zeng |
| author_facet | Shaofen Huang Yonghui Feng Ying Sun Jiazi Liu Pu Wang Jingrong Yu Xin Su Shasha Han Shiqi Huang Haokun Huang Shiyun Chen Ying Xu Fangfang Zeng |
| author_sort | Shaofen Huang |
| collection | DOAJ |
| description | This umbrella review was conducted aiming to assess the association between genetic variations and the development of diabetic retinopathy (DR) by collecting and evaluating available systematic reviews and meta-analysis results. We evaluated the methodological quality using the Measurement Tool to Assess Systematic Reviews (AMSTAR) 2.0, estimated the summary effect size by using the random effects model and calculated the 95% prediction intervals (PIs). Evidence from the included meta-analyses was graded according to established criteria as follows: convincing, highly suggestive, suggestive, weak, or not significant. This umbrella review included 32 meta-analyses of 52 candidate SNPs. The 12 selected meta-analyses were rated as “high,” 2 studies were rated as “moderate,” 11 studies were graded as “low,” and the remaining 7 studies were graded as “critically low” in terms of methodological quality. Carriers of specific genotypes and alleles of the transcription Factor 7-like 2 C/T (TCF7L2 C/T) polymorphism (rs7903146, p < 0.001) might be more susceptible to the occurrence of DR in the homozygous and recessive models, and these associations were supported by “convincing” evidence. Significant associations were also found between interleukin-6 (IL-6) -174 G/C (rs1800795; p < 0.05) or vascular endothelial growth factor (VEGF) polymorphisms (rs2010963, rs699947, rs1570360, rs2010963, rs699947, rs2146323; all p values <0.05) and DR risk, but these associations were supported by “weak” evidence. The TCF7L2 C/T variant could be identified as a definitive genetic risk factor for the development and progression of DR. Data from additional in-depth studies are needed to establish robust evidence for the associations between polymorphisms of IL-6 or VEGF and DR. |
| format | Article |
| id | doaj-art-788d70b0313445c7ab796341a0654a8c |
| institution | Kabale University |
| issn | 1348-4540 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | The Japan Endocrine Society |
| record_format | Article |
| series | Endocrine Journal |
| spelling | doaj-art-788d70b0313445c7ab796341a0654a8c2025-01-22T05:20:11ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402024-09-0171983984910.1507/endocrj.EJ23-0564endocrjThe associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella reviewShaofen Huang0Yonghui Feng1Ying Sun2Jiazi Liu3Pu Wang4Jingrong Yu5Xin Su6Shasha Han7Shiqi Huang8Haokun Huang9Shiyun Chen10Ying Xu11Fangfang Zeng12Shenzhen Qianhai Shekou Free Trade Zone Hospital, Shenzhen 518067, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaShenzhen Qianhai Shekou Free Trade Zone Hospital, Shenzhen 518067, ChinaShenzhen Qianhai Shekou Free Trade Zone Hospital, Shenzhen 518067, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaDepartment of Neonatology and Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaBaoan Center for Chronic Diseases Control, Shenzhen 518101, ChinaDepartment of Public Health and Preventive Medicine, School of Medicine, Jinan University, Guangzhou 510632, ChinaThis umbrella review was conducted aiming to assess the association between genetic variations and the development of diabetic retinopathy (DR) by collecting and evaluating available systematic reviews and meta-analysis results. We evaluated the methodological quality using the Measurement Tool to Assess Systematic Reviews (AMSTAR) 2.0, estimated the summary effect size by using the random effects model and calculated the 95% prediction intervals (PIs). Evidence from the included meta-analyses was graded according to established criteria as follows: convincing, highly suggestive, suggestive, weak, or not significant. This umbrella review included 32 meta-analyses of 52 candidate SNPs. The 12 selected meta-analyses were rated as “high,” 2 studies were rated as “moderate,” 11 studies were graded as “low,” and the remaining 7 studies were graded as “critically low” in terms of methodological quality. Carriers of specific genotypes and alleles of the transcription Factor 7-like 2 C/T (TCF7L2 C/T) polymorphism (rs7903146, p < 0.001) might be more susceptible to the occurrence of DR in the homozygous and recessive models, and these associations were supported by “convincing” evidence. Significant associations were also found between interleukin-6 (IL-6) -174 G/C (rs1800795; p < 0.05) or vascular endothelial growth factor (VEGF) polymorphisms (rs2010963, rs699947, rs1570360, rs2010963, rs699947, rs2146323; all p values <0.05) and DR risk, but these associations were supported by “weak” evidence. The TCF7L2 C/T variant could be identified as a definitive genetic risk factor for the development and progression of DR. Data from additional in-depth studies are needed to establish robust evidence for the associations between polymorphisms of IL-6 or VEGF and DR.https://www.jstage.jst.go.jp/article/endocrj/71/9/71_EJ23-0564/_html/-char/ensingle nucleotide polymorphismsdiabetic retinopathyumbrella review |
| spellingShingle | Shaofen Huang Yonghui Feng Ying Sun Jiazi Liu Pu Wang Jingrong Yu Xin Su Shasha Han Shiqi Huang Haokun Huang Shiyun Chen Ying Xu Fangfang Zeng The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review Endocrine Journal single nucleotide polymorphisms diabetic retinopathy umbrella review |
| title | The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review |
| title_full | The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review |
| title_fullStr | The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review |
| title_full_unstemmed | The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review |
| title_short | The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review |
| title_sort | associations between single nucleotide polymorphisms and diabetic retinopathy risk an umbrella review |
| topic | single nucleotide polymorphisms diabetic retinopathy umbrella review |
| url | https://www.jstage.jst.go.jp/article/endocrj/71/9/71_EJ23-0564/_html/-char/en |
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