Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)

Abstract Background Systemic lupus erythematosus (SLE) is a complex prototypic autoimmune disease, with a prevalence of 20–150 per 100,000, most commonly affecting women at child‐bearing age. Genome‐wide association studies and fine mapping of candidate regions have paved the way for greater underst...

Full description

Bibliographic Details
Main Authors: Michael L. Tee, Cherica A. Tee, Jose B. Nevado Jr., Angeline Therese Santiago, Aedrian A. Abrilla, Carlo M. Lapid, Francis A. Tablizo, Joshua A. Dizon, El K. B. Morado, Eva Maria Cutiongco‐Dela Paz
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:Rheumatology & Autoimmunity
Subjects:
Online Access:https://doi.org/10.1002/rai2.12024
_version_ 1818479583765200896
author Michael L. Tee
Cherica A. Tee
Jose B. Nevado Jr.
Angeline Therese Santiago
Aedrian A. Abrilla
Carlo M. Lapid
Francis A. Tablizo
Joshua A. Dizon
El K. B. Morado
Eva Maria Cutiongco‐Dela Paz
author_facet Michael L. Tee
Cherica A. Tee
Jose B. Nevado Jr.
Angeline Therese Santiago
Aedrian A. Abrilla
Carlo M. Lapid
Francis A. Tablizo
Joshua A. Dizon
El K. B. Morado
Eva Maria Cutiongco‐Dela Paz
author_sort Michael L. Tee
collection DOAJ
description Abstract Background Systemic lupus erythematosus (SLE) is a complex prototypic autoimmune disease, with a prevalence of 20–150 per 100,000, most commonly affecting women at child‐bearing age. Genome‐wide association studies and fine mapping of candidate regions have paved the way for greater understanding of SLE as a disease of genetic–environmental susceptibility and the functions of the genes involved. Method This study was conducted to determine the association of selected single nucleotide polymorphisms (SNPs) from established genomic databases based on theoretical risk and protective odds ratios > 2.5 or <0.40) to susceptibility of developing SLE among Filipinos. Results We analyzed data from 310 SLE patients and 318 controls. We identified eight significant SNPs namely rs9271100, rs9271366, rs9272105, rs9275328, rs2647087, rs12734338, rs17885098, and rs3883013 to be associated with an increased risk of developing SLE among Filipinos. Conclusion Eight SNPs were found to be associated with the development of SLE among Filipinos. Similar to previous genetic studies in lupus patients, majority of the SNPs were found in the major histocompatibilty complex genes in the HLA region. Our study identified two unique SNPs that will be validated as potential diagnostic markers for SLE. The findings of this study may contribute to the development of a polygenic risk score in determining susceptibility to SLE among Filipinos.
first_indexed 2024-12-10T11:12:42Z
format Article
id doaj.art-215a30019bc646fe881ac4ea0308de72
institution Directory Open Access Journal
issn 2767-1429
language English
last_indexed 2024-12-10T11:12:42Z
publishDate 2022-03-01
publisher Wiley
record_format Article
series Rheumatology & Autoimmunity
spelling doaj.art-215a30019bc646fe881ac4ea0308de722022-12-22T01:51:20ZengWileyRheumatology & Autoimmunity2767-14292022-03-0121223010.1002/rai2.12024Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)Michael L. Tee0Cherica A. Tee1Jose B. Nevado Jr.2Angeline Therese Santiago3Aedrian A. Abrilla4Carlo M. Lapid5Francis A. Tablizo6Joshua A. Dizon7El K. B. Morado8Eva Maria Cutiongco‐Dela Paz9College of Medicine University of the Philippines Manila Manila PhillipinesCollege of Medicine University of the Philippines Manila Manila PhillipinesInstitute of Human Genetics, National Institutes of Health University of the Philippines Manila Manila PhillipinesCollege of Medicine University of the Philippines Manila Manila PhillipinesCollege of Medicine and Philippine General Hospital University of the Philippines Manila Manila PhillipinesInstitute of Human Genetics, National Institutes of Health University of the Philippines Manila Manila PhillipinesInstitute of Human Genetics, National Institutes of Health University of the Philippines Manila Manila PhillipinesInstitute of Human Genetics, National Institutes of Health University of the Philippines Manila Manila PhillipinesInstitute of Human Genetics, National Institutes of Health University of the Philippines Manila Manila PhillipinesNational Institutes of Health University of the Philippines Manila Manila PhillipinesAbstract Background Systemic lupus erythematosus (SLE) is a complex prototypic autoimmune disease, with a prevalence of 20–150 per 100,000, most commonly affecting women at child‐bearing age. Genome‐wide association studies and fine mapping of candidate regions have paved the way for greater understanding of SLE as a disease of genetic–environmental susceptibility and the functions of the genes involved. Method This study was conducted to determine the association of selected single nucleotide polymorphisms (SNPs) from established genomic databases based on theoretical risk and protective odds ratios > 2.5 or <0.40) to susceptibility of developing SLE among Filipinos. Results We analyzed data from 310 SLE patients and 318 controls. We identified eight significant SNPs namely rs9271100, rs9271366, rs9272105, rs9275328, rs2647087, rs12734338, rs17885098, and rs3883013 to be associated with an increased risk of developing SLE among Filipinos. Conclusion Eight SNPs were found to be associated with the development of SLE among Filipinos. Similar to previous genetic studies in lupus patients, majority of the SNPs were found in the major histocompatibilty complex genes in the HLA region. Our study identified two unique SNPs that will be validated as potential diagnostic markers for SLE. The findings of this study may contribute to the development of a polygenic risk score in determining susceptibility to SLE among Filipinos.https://doi.org/10.1002/rai2.12024geneticslupusSLESNPsusceptibility
spellingShingle Michael L. Tee
Cherica A. Tee
Jose B. Nevado Jr.
Angeline Therese Santiago
Aedrian A. Abrilla
Carlo M. Lapid
Francis A. Tablizo
Joshua A. Dizon
El K. B. Morado
Eva Maria Cutiongco‐Dela Paz
Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)
Rheumatology & Autoimmunity
genetics
lupus
SLE
SNP
susceptibility
title Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)
title_full Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)
title_fullStr Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)
title_full_unstemmed Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)
title_short Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA‐PH)
title_sort single nucleotide polymorphism snp in genes of lupus a philippine study sigla ph
topic genetics
lupus
SLE
SNP
susceptibility
url https://doi.org/10.1002/rai2.12024
work_keys_str_mv AT michaelltee singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT chericaatee singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT josebnevadojr singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT angelinetheresesantiago singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT aedrianaabrilla singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT carlomlapid singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT francisatablizo singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT joshuaadizon singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT elkbmorado singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph
AT evamariacutiongcodelapaz singlenucleotidepolymorphismsnpingenesoflupusaphilippinestudysiglaph