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

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

Journal: Human genomics 2019;13(1):13

PMID: 30795802

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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.

Address: Malaysian Research Institute on Ageing, Universiti Putra Malaysia, 43400, Serdang, Selangor DE, Malaysia.; Malaysian Research Institute on Ageing, Universiti Putra Malaysia, 43400, Serdang, Selangor DE, Malaysia. [email protected].; Department of Ophthalmology, Universiti Kebangsaan Malaysia Medical Centre, 56000, Cheras, Kuala Lumpur, Malaysia.; Department of Nutrition and Dietetics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400, Serdang, Selangor DE, Malaysia.; Department of Ophthalmology, Hospital Selayang, Lebuhraya Selayang-Kepong, 68100, Batu Caves, Malaysia.; Department of Family Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400, Serdang, Selangor DE, Malaysia.; Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400, Serdang, Selangor DE, Malaysia.; Department of Surgery, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400, Serdang, Selangor DE, Malaysia.

DOI: 10.1186/s40246-019-0197-3

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https://medlineplus.gov/maculardegeneration.html

MeSH Terms: Aged, Angiogenesis Inhibitors, Female, Gene Expression, High-Temperature Requirement A Serine Peptidase 1, Homozygote, Humans, Macular Degeneration, Male, Middle Aged, Polymorphism, Single Nucleotide, Prospective Studies, Proteins, Ranibizumab, Treatment Outcome