TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondence

Genótipo CT do TXNRD2 (rs35934224) e glaucoma primário de ângulo aberto: correspondência

Dear Editor,

We would like to share ideas on “TXNRD2 (rs35934224) CT genotype as possible protective marker for primary open-angle glaucoma in a Brazilian population(¹).” Tenório et al. concluded that “Our data suggest an association between TXNRD2 gene polymorphism (rs35934224) with primary open-angle glaucoma in an admixed Brazilian population(¹). We agree TXNRD2 (rs35934224) CT genotype might be associated with primary open-angle glaucoma. The present report can give good data on genetic underlying background of glaucoma. In this study, Tenório et al. focused only a polymorphism.

Environmental confounding factors might be well controlled but there is a chance of effects of other genetic polymorphisms which are reported for association with primary open-angle glaucoma might still exist. Examples of those genetic polymorphisms are CDKN2B-AS1, GSTO1, GSTO2, GSTP1, GPX1OPA1, MFN1, and MFN2 polymorphisms(²-⁴). Further studies on effects of other polymorphisms are very interesting.

• Funding: This study received no specific financial support.

REFERENCES

• ¹ Tenório AL, Lira RPC, Carmo RFD, Galvão Filho RP, Falcão Neto PT, Vaz RT, et al. TXNRD2 (rs35934224) CT genotype as possible protective marker for primary open-angle glaucoma in a Brazilian population. Arq Bras Oftalmol [Internet]. 2021[cited Dec 21]:S0004-27492021005005222. Available from: SciELO - Brasil - TXNRD2 (rs35934224) CT genotype as possible protective marker for primary open-angle glaucoma in a Brazilian population TXNRD2 (rs35934224) CT genotype as possible protective marker for primary open-angle glaucoma in a Brazilian population
• ² Sobot V, Stamenkovic M, Simic T, Jerotic D, Djokic M, Jaksic V, et al. Association of GSTO1, GSTO2, GSTP1, GPX1 and SOD2 polymorphism with primary open angle glaucoma. Exp Eye Res. 2021;214:108863.
• ³ Liu S, Chen S, Niu T. Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects. Ir J Med Sci. 2021. doi: 10.1007/s11845-021-02794-x.
  » https://doi.org/10.1007/s11845-021-02794-x
• ⁴ Milanowski P, Kosior-Jarecka E, Łukasik U, Wróbel-Dudzińska D, Milanowska J, Khor CC, et al. Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry. Ophthalmic Genet. 2021:1-6. doi: 10.1080/13816810.2021.1970197.
  » https://doi.org/10.1080/13816810.2021.1970197

Reply to “TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondence”

Resposta a “Genótipo CT do TXNRD2 (rs35934224) e glaucoma primário de ângulo aberto: correspondência”

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To the Editor:

We thank Sookaromdee and Wiwanitkit for their interest and comments on our manuscript. The authors have highlighted the importance of further studies to evaluate the effects of other polymorphisms on primary open-angle glaucoma (POAG). As published by Weinreb et al.(¹), glaucoma is a multifactorial disease with incompletely understood pathophysiology. Bailey et al.(²) published a genome-wide association study (GWAS) describing 22 POAG-related single nucleotide polymorphisms (SNPs), of which 19 had been previously described. In addition, Bonnemaijer(³) confirmed the relationship of 15 SNPs with glaucoma in the African population.

Although GWAS studies are important to identify new common polymorphisms associated with diseases, this strategy has some limitations⁽⁴⁾ that may lead to false-positive results. In addition, most studies were performed in European and North American populations; therefore, it is of fundamental importance to confirm these polymorphisms in other populations, such as the Brazilian, which has a highly admixed population. Therefore, we decided to verify the association of TXNRD2 (rs35934224) with POAG in a Brazilian population.

As exposed in our work, we also have the conviction that further studies are needed to confirm these associations and try to better understand the disease patho­physiology to be able to propose curative therapies based on these data.

REFERENCES

• ¹ Weinreb RN, Leung CKS, Crowston JG, Medeiros FA, Friedman DS, Wiggs JL, et al. Primary open-angle glaucoma. Nat Rev Dis Primers. 2016;2:16067. doi:10.1038/nrdp.2016.67
  » https://doi.org/10.1038/nrdp.2016.67
• ² Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, et al. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet [Internet]. 2016[cited 2020 Oct 15];48(2):189-94. Available from: Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma (nih.gov)
• ³ Bonnemaijer PWM, Iglesias AI, Nadkarni GN, Sanyiwa AJ, Hassan HG, Cook C; GIGA Study Group, Simcoe M, Taylor KD, Schurmann C, Belbin GM, Kenny EE, Bottinger EP, van de Laar S, Wiliams SEI, Akafo SK, Ashaye AO, Zangwill LM, Girkin CA, Ng MCY, Rotter JI, Weinreb RN, Li Z, Allingham RR; Eyes of Africa Genetics Consortium, Nag A, Hysi PG, Meester-Smoor MA, Wiggs JL; NEIGHBORHOOD Consortium, Hauser MA, Hammond CJ, Lemij HG, Loos RJF, van Duijn CM, Thiadens AAHJ, Klaver CCW. Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. Hum Genet [Internet]. 2018 [cited 2019 Mar 19];137(10):847-62. Available from: Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations (nih.gov)

Publication Dates

• Publication in this collection
  08 Apr 2022
• Date of issue
  2022

History

• Received
  13 Dec 2021
• Accepted
  20 Dec 2021