GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY

Danial Mohabati; Rosa L Schellevis; Elon H C van Dijk; Lebriz Altay; Sascha Fauser; Carel B Hoyng; Eiko K De Jong; Camiel J F Boon; Suzanne Yzer

doi:10.1097/IAE.0000000000002333

GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY

Danial Mohabati, Rosa L Schellevis, Elon H C van Dijk, Lebriz Altay, Sascha Fauser, Carel B Hoyng, Eiko K De Jong, Camiel J F Boon, Suzanne Yzer

Research output: Contribution to journal › Article › Research › peer-review

Abstract

PURPOSE: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC).

METHODS: A total of 135 aCSC patients, 272 cCSC patients, and 1,385 control individuals were included. Eight single nucleotide polymorphisms were genotyped for ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Also, C4B gene copy numbers were analyzed.

RESULTS: Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 × 10, odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). A significant difference was found in the distribution of C4B gene copy numbers in aCSC patients compared with controls (P = 0.0042). No differences could be found among the selected variants between aCSC and cCSC patients.

CONCLUSION: Three variants in the CFH gene and copy number variations in C4B were found to be significantly associated with the risk of aCSC development. Despite the differences in clinical presentation, acute and chronic CSC may share a similar genetic predisposition based on our present analysis. Other genetic and/or nongenetic risk factors may be more influential in the differentiation toward an acute or a chronic phenotype of CSC.

Original language	English
Pages (from-to)	2303-2310
Number of pages	8
Journal	Retina
Volume	39
Issue number	12
DOIs	https://doi.org/10.1097/IAE.0000000000002333
Publication status	Published - Dec 2019

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@article{45bf0102ee6e4ae499a61d2090ac9903,

title = "GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY",

abstract = "PURPOSE: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC).METHODS: A total of 135 aCSC patients, 272 cCSC patients, and 1,385 control individuals were included. Eight single nucleotide polymorphisms were genotyped for ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Also, C4B gene copy numbers were analyzed.RESULTS: Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 × 10, odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). A significant difference was found in the distribution of C4B gene copy numbers in aCSC patients compared with controls (P = 0.0042). No differences could be found among the selected variants between aCSC and cCSC patients.CONCLUSION: Three variants in the CFH gene and copy number variations in C4B were found to be significantly associated with the risk of aCSC development. Despite the differences in clinical presentation, acute and chronic CSC may share a similar genetic predisposition based on our present analysis. Other genetic and/or nongenetic risk factors may be more influential in the differentiation toward an acute or a chronic phenotype of CSC.",

author = "Danial Mohabati and Schellevis, {Rosa L} and {van Dijk}, {Elon H C} and Lebriz Altay and Sascha Fauser and Hoyng, {Carel B} and {De Jong}, {Eiko K} and Boon, {Camiel J F} and Suzanne Yzer",

year = "2019",

month = dec,

doi = "10.1097/IAE.0000000000002333",

language = "English",

volume = "39",

pages = "2303--2310",

journal = "Retina",

issn = "0275-004X",

number = "12",

}

TY - JOUR

T1 - GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY

AU - Mohabati, Danial

AU - Schellevis, Rosa L

AU - van Dijk, Elon H C

AU - Altay, Lebriz

AU - Fauser, Sascha

AU - Hoyng, Carel B

AU - De Jong, Eiko K

AU - Boon, Camiel J F

AU - Yzer, Suzanne

PY - 2019/12

Y1 - 2019/12

N2 - PURPOSE: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC).METHODS: A total of 135 aCSC patients, 272 cCSC patients, and 1,385 control individuals were included. Eight single nucleotide polymorphisms were genotyped for ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Also, C4B gene copy numbers were analyzed.RESULTS: Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 × 10, odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). A significant difference was found in the distribution of C4B gene copy numbers in aCSC patients compared with controls (P = 0.0042). No differences could be found among the selected variants between aCSC and cCSC patients.CONCLUSION: Three variants in the CFH gene and copy number variations in C4B were found to be significantly associated with the risk of aCSC development. Despite the differences in clinical presentation, acute and chronic CSC may share a similar genetic predisposition based on our present analysis. Other genetic and/or nongenetic risk factors may be more influential in the differentiation toward an acute or a chronic phenotype of CSC.

AB - PURPOSE: To investigate genetic associations in white patients with acute central serous chorioretinopathy (aCSC) and to assess genetic differences between aCSC and chronic CSC (cCSC).METHODS: A total of 135 aCSC patients, 272 cCSC patients, and 1,385 control individuals were included. Eight single nucleotide polymorphisms were genotyped for ARMS2 (rs10490924), CFH (rs800292, rs1061170, rs1065489, rs1329428, rs2284664, rs3753394), and NR3C2 (rs2070951). Also, C4B gene copy numbers were analyzed.RESULTS: Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 × 10, odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). A significant difference was found in the distribution of C4B gene copy numbers in aCSC patients compared with controls (P = 0.0042). No differences could be found among the selected variants between aCSC and cCSC patients.CONCLUSION: Three variants in the CFH gene and copy number variations in C4B were found to be significantly associated with the risk of aCSC development. Despite the differences in clinical presentation, acute and chronic CSC may share a similar genetic predisposition based on our present analysis. Other genetic and/or nongenetic risk factors may be more influential in the differentiation toward an acute or a chronic phenotype of CSC.

U2 - 10.1097/IAE.0000000000002333

DO - 10.1097/IAE.0000000000002333

M3 - Article

C2 - 30300269

SN - 0275-004X

VL - 39

SP - 2303

EP - 2310

JO - Retina

JF - Retina

IS - 12

ER -

GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY

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