Lack of Association between the Thr431Asn and Arg83Lys Polymorphisms of the<i>ROCK2</i>Gene and Diabetic Retinopathy

Demiryürek, Abdullah Tuncay; Erbağcı, İbrahim; Öztuzcu, Serdar; Alaşehirli, Belgin; Ozkara, Esma; Şeker, Mehmet; Sönmez, Ayhan; Özsan, Müge; Camcı, Celalettin

doi:10.3109/02713683.2010.507903

Cited by 7 publications

(6 citation statements)

References 40 publications

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Section: Ocular Diseasesmentioning

confidence: 50%

“…It has been reported that ROCK2 gene rs2230774 (Thr431Asn) and rs1130757 (Arg83Lys) polymorphisms were not associated with the risk of diabetes (mainly type-2) [31], suggesting that these polymorphisms are not a contributing factor to the susceptibility of diabetes in a Turkish population. However, Ross [23] presented evidence for the association of ROCK2 rs1868584 variant with type-1 diabetes.…”

Section: Diabetesmentioning

confidence: 99%

“…No evidence for an association of ROCK2 gene rs2230774 (Thr431Asn) and rs1130757 (Arg83Lys) polymorphisms with diabetic retinopathy has been reported in a Turkish Population [31]. Additionally, the haplotypes are not signiicantly associated with diabetic retinopathy as shown in this study [31]. Moreover, another recent study demonstrated that the polymorphisms for the ROCK1 (rs35996865) and ROCK2 [rs2290156, rs965665, rs10178332, rs2230774 (Thr431Asn), rs2230774 (Thr431Ser), rs6755196, and rs726843] genes are not associated with the increased risk of development of primary open-angle glaucoma in a Turkish population [32].…”

Section: Ocular Diseasesmentioning

confidence: 99%

“…The Thr431Asn polymorphism lies immediately carboxyl-terminal to the start of the putative coiled-coil region and encodes an amino acid substitution in the predicted coiled-coil domain of the protein, which is associated with ROCK2/ROCK2 parallel homodimerization Cardiac septal defects rs2230774 (Thr431Asn) [26] Systemic sclerosis rs10178332 [28] rs2230774 (Thr431Ser), rs2230774 (Thr431Asn), rs35768389 (Asp601Val), rs726843, rs2290156, rs965665, rs6755196, rs10929732 [28] Behçet's disease rs35768389 (Asp601Val), rs1515219 [29] rs726843, rs2290156, rs965665, rs10178332, rs2230774, rs6755196, rs10929732, rs34945852 [29] Rheumatoid arthritis rs1868584 [23] Diabetic retinopathy rs2230774 (Thr431Asn), rs1130757 (Arg83Lys) [31] Primary open-angle glaucoma rs2290156, rs965665, rs10178332, rs2230774 (Thr431Asn), rs2230774 (Thr431Ser), rs6755196, rs726843 [32] Ischemic stroke rs921322, rs8996, rs6753921, rs2230774, rs1515219, rs6716817, rs10203916, rs6755337, rs12622447 [33] Obesity-related metabolic syndrome rs2230774 (Thr431Asn) [34] rs2230774 (Thr431Ser), rs726843, rs2290156, rs965665, rs10178332, rs6755196 [34] Respiratory distress syndrome rs726843, rs2290156, rs10178332, rs35768389 (Asp601Val) [35] rs1515219, rs965665, rs2230774 (Thr431Asn), rs6755196, rs10929732 [35] Chronic kidney disease rs2230774 (Thr431Asn) [36] Urinary albumin excretion rs1515219, rs2290156 [37] Overactive bladder rs2230774 (Thr431Asn) [38] Idiopathic generalized epilepsy rs2230774 (Thr431Asn) [39] Migraine rs2230774 (Thr431Asn) [40] Diabetes rs1868584 (with type-1 diabetes)…”

Section: Structure or Function Of The Rock Enzymes Afected By Polymormentioning

confidence: 99%

“…[23] rs2230774 (Thr431Asn), rs1130757 (Arg83Lys) [31] High altitude pulmonary edema rs10929728 [41] rs978906, rs6753921, rs2290156, rs10495582, rs2230774, rs10167277, rs13393192, rs10929727, rs6716817, rs4477886, rs41264193, rs12622447, rs10929728 and Rho binding. Asp601Val polymorphism is also located on the coiled-coil region.…”

Section: Structure or Function Of The Rock Enzymes Afected By Polymormentioning

confidence: 99%

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Rho‐kinase Gene Polymorphisms in Related Disease States

Demiryürek¹,

Demiryürek²

2017

Genetic Polymorphisms

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The Rho-kinase (ROCK) family members, consisting of ROCK1 and ROCK2, are serinethreonine kinases that are activated by small GTPases. ROCKs play central roles in the actin cytoskeleton organization and regulate a wide range of fundamental cellular functions, such as apoptosis, inlammatory responses, cell contractility, adhesion, migration, motility, proliferation, phagocytosis, and apoptosis. Accumulating evidence from basic and clinical studies supports the concept that ROCK plays important roles in many diseases and could be a potential therapeutic target for diverse disorders, including cardiovascular, neurologic, metabolic, autoimmune disorders, and cancers. Although there are only limited numbers of published studies related to ROCK polymorphisms in humans, the contribution of the genetic studies related to ROCK variants to the disease states is emerging. Identifying mutated genes or associated polymorphisms and evaluating their potential risks are important steps for understanding the genetic components and pathogenesis of diseases. Identiication of functional mutations or polymorphisms could potentially help in the development of novel ROCK-speciic therapies in related disease states.

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Section: Ocular Diseasesmentioning

confidence: 50%

Section: Diabetesmentioning

confidence: 99%

Section: Ocular Diseasesmentioning

confidence: 99%

Section: Structure or Function Of The Rock Enzymes Afected By Polymormentioning

confidence: 99%

Section: Structure or Function Of The Rock Enzymes Afected By Polymormentioning

confidence: 99%

See 3 more Smart Citations

Rho‐kinase Gene Polymorphisms in Related Disease States

Demiryürek¹,

Demiryürek²

2017

Genetic Polymorphisms

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Challenges in Elucidating the Genetics of Diabetic Retinopathy

2014

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Candidate gene studies of diabetic retinopathy in human

2016

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Diabetic retinopathy (DR) is a multifactorial disease with complex pathophysiology. It is the main cause of blindness among the people in productive age. The purpose of this literature review is to highlight recent achievements in the genetics of diabetic retinopathy with particular focus on candidate gene studies. We summarized most of the available published data about candidate genes for diabetic retinopathy with the goal to identify main genetic aspects. We conclude that genetic studies reported contradictory findings and no genetic variants meet criteria of a diagnostic marker, or significantly elucidate the root of DR development. Based on these findings it is important to continue with the research in the field of DR genetics, mainly due to the fact that currently new possibilities and approaches associated with utilization of next-generation sequencing are available.

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Lack of Association between the Thr431Asn and Arg83Lys Polymorphisms of theROCK2Gene and Diabetic Retinopathy

Abstract: These results suggest that there were no evidence for an association of ROCK2 gene Thr431Asn and Arg83Lys polymorphisms with diabetes or diabetic retinopathy in the Turkish population.

Cited by 7 publications

References 40 publications

Rho‐kinase Gene Polymorphisms in Related Disease States

Rho‐kinase Gene Polymorphisms in Related Disease States

Challenges in Elucidating the Genetics of Diabetic Retinopathy

Candidate gene studies of diabetic retinopathy in human

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