Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects

Abstract Background The association of HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms with response to intravitreal ranibizumab therapy among neovascular AMD (nAMD) subjects in Malaysia was determined in this study, followed by the expression of HTRA1 and ARMS2 genes. Results Both single n...

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Main Authors: Nur Afiqah Mohamad, Vasudevan Ramachandran, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman, Liyana Najwa Inche Mat, Mohd Hazmi Mohamed
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Human Genomics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s40246-019-0197-3
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author Nur Afiqah Mohamad
Vasudevan Ramachandran
Hazlita Mohd Isa
Yoke Mun Chan
Nor Fariza Ngah
Siew Mooi Ching
Fan Kee Hoo
Wan Aliaa Wan Sulaiman
Liyana Najwa Inche Mat
Mohd Hazmi Mohamed
author_facet Nur Afiqah Mohamad
Vasudevan Ramachandran
Hazlita Mohd Isa
Yoke Mun Chan
Nor Fariza Ngah
Siew Mooi Ching
Fan Kee Hoo
Wan Aliaa Wan Sulaiman
Liyana Najwa Inche Mat
Mohd Hazmi Mohamed
author_sort Nur Afiqah Mohamad
collection DOAJ
description Abstract Background The association of HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms with response to intravitreal ranibizumab therapy among neovascular AMD (nAMD) subjects in Malaysia was determined in this study, followed by the expression of HTRA1 and ARMS2 genes. Results Both single nucleotide polymorphisms (SNPs) recorded a significant association between nAMD and controls with HTRA1 rs11200638 at P = 0.018 (OR = 1.52, 95% CI = 1.07–215) and ARMS2 rs10490924 at P < 0.001 (OR = 2.44, 95% CI = 1.75–3.42). An association was also observed in response to ranibizumab for both SNPs in a logistic regression analysis (P < 0.001). The mRNA levels in the HTRA1 variant between responder and non-responder groups were significantly different for the homozygous non-risk GG genotype (P = 0.032). Conclusions The HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms are associated with nAMD among Malaysians. Both gene polymorphisms were also correlated with response to intravitreal ranibizumab therapy based on visual and anatomical outcomes especially the HTRA1 rs11200638 variant.
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spelling doaj.art-7526802e10414643b2b0fb706a97dae72022-12-22T02:57:33ZengBMCHuman Genomics1479-73642019-02-0113111210.1186/s40246-019-0197-3Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjectsNur Afiqah Mohamad0Vasudevan Ramachandran1Hazlita Mohd Isa2Yoke Mun Chan3Nor Fariza Ngah4Siew Mooi Ching5Fan Kee Hoo6Wan Aliaa Wan Sulaiman7Liyana Najwa Inche Mat8Mohd Hazmi Mohamed9Malaysian Research Institute on Ageing, Universiti Putra MalaysiaMalaysian Research Institute on Ageing, Universiti Putra MalaysiaDepartment of Ophthalmology, Universiti Kebangsaan Malaysia Medical CentreMalaysian Research Institute on Ageing, Universiti Putra MalaysiaDepartment of Ophthalmology, Hospital SelayangDepartment of Family Medicine, Faculty of Medicine and Health Sciences, Universiti Putra MalaysiaDepartment of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra MalaysiaDepartment of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra MalaysiaDepartment of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra MalaysiaDepartment of Surgery, Faculty of Medicine and Health Sciences, Universiti Putra MalaysiaAbstract Background The association of HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms with response to intravitreal ranibizumab therapy among neovascular AMD (nAMD) subjects in Malaysia was determined in this study, followed by the expression of HTRA1 and ARMS2 genes. Results Both single nucleotide polymorphisms (SNPs) recorded a significant association between nAMD and controls with HTRA1 rs11200638 at P = 0.018 (OR = 1.52, 95% CI = 1.07–215) and ARMS2 rs10490924 at P < 0.001 (OR = 2.44, 95% CI = 1.75–3.42). An association was also observed in response to ranibizumab for both SNPs in a logistic regression analysis (P < 0.001). The mRNA levels in the HTRA1 variant between responder and non-responder groups were significantly different for the homozygous non-risk GG genotype (P = 0.032). Conclusions The HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms are associated with nAMD among Malaysians. Both gene polymorphisms were also correlated with response to intravitreal ranibizumab therapy based on visual and anatomical outcomes especially the HTRA1 rs11200638 variant.http://link.springer.com/article/10.1186/s40246-019-0197-3Age-related macular degenerationAge-related maculopathy susceptibility 2High temperature requirement a serine peptidase 1PolymorphismRanibizumab
spellingShingle Nur Afiqah Mohamad
Vasudevan Ramachandran
Hazlita Mohd Isa
Yoke Mun Chan
Nor Fariza Ngah
Siew Mooi Ching
Fan Kee Hoo
Wan Aliaa Wan Sulaiman
Liyana Najwa Inche Mat
Mohd Hazmi Mohamed
Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects
Human Genomics
Age-related macular degeneration
Age-related maculopathy susceptibility 2
High temperature requirement a serine peptidase 1
Polymorphism
Ranibizumab
title Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects
title_full Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects
title_fullStr Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects
title_full_unstemmed Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects
title_short Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects
title_sort association of htra1 and arms2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age related macular degenerative subjects
topic Age-related macular degeneration
Age-related maculopathy susceptibility 2
High temperature requirement a serine peptidase 1
Polymorphism
Ranibizumab
url http://link.springer.com/article/10.1186/s40246-019-0197-3
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