Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population

Association of STAT4 (signal transducer and activator of transcription4) haplotype tagged by single nucleotide polymorphism (SNP) rs7574865 with systemic lupus erythematosus (SLE) was reported in different populations. This study was aimed to investigate a genetic association between STAT4 single...

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Main Authors: Bashir, Rasheeda, Ali, Hira, Malik, Saira, Munir, Neelma, Haq, Rukhama, Naz, Shagufta, Imran, Altaf
Format: Article
Language:English
Published: Penerbit Universiti Kebangsaan Malaysia 2020
Online Access:http://journalarticle.ukm.my/16005/1/14.pdf
http://journalarticle.ukm.my/16005/
https://www.ukm.my/jsm/malay_journals/jilid49bil11_2020/KandunganJilid49Bil11_2020.html
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spelling my-ukm.journal.160052020-12-17T05:04:43Z http://journalarticle.ukm.my/16005/ Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population Bashir, Rasheeda Ali, Hira Malik, Saira Munir, Neelma Haq, Rukhama Naz, Shagufta Imran, Altaf Association of STAT4 (signal transducer and activator of transcription4) haplotype tagged by single nucleotide polymorphism (SNP) rs7574865 with systemic lupus erythematosus (SLE) was reported in different populations. This study was aimed to investigate a genetic association between STAT4 single nucleotide polymorphism (rs7574865) with susceptibility and clinical features of systemic lupus erythematosus in Pakistani population. A total of 75 clinically diagnosed individuals affected with SLE were enrolled from Children’s Hospital and Institute of Child Health Lahore. Sixty-eight healthy individuals of same ethnicity were also enrolled for this study. Clinical assessment of patients was done with the help of clinical features suggestive for SLE and some diagnostic tests specific for the disease were performed. SNP rs7574865 was genotyped by allele specific tetra ARMS PCR assay to check and compare the genotypic allele frequencies between SLE patients and healthy controls. Different statistical analysis ChiSquare, Fisher’s exact tests and binary Logistic Regression is performed to determine association of risk alleles with SLE in Pakistani population. p value less than >0.05 consider significant. This study showed the frequency of GG (28%), TT (12%), and GT alleles (60%) in SLE patients while controls showed allele frequencies of GG (5%), TT (29%) and GT (64%), respectively. The results showed that GG genotype and G allele in STAT4 rs7574865 was the risk allele for SLE while T allele proved to be the protective one for disease susceptibility when compared with healthy controls genotypic frequencies. This study suggests the strong association of SNP rs7574865 in STAT4 with the risk of SLE in Pakistani population. However, G allele showed no association with organ damage and immune disorder of SLE. Penerbit Universiti Kebangsaan Malaysia 2020-11 Article PeerReviewed application/pdf en http://journalarticle.ukm.my/16005/1/14.pdf Bashir, Rasheeda and Ali, Hira and Malik, Saira and Munir, Neelma and Haq, Rukhama and Naz, Shagufta and Imran, Altaf (2020) Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population. Sains Malaysiana, 49 (11). pp. 2755-2761. ISSN 0126-6039 https://www.ukm.my/jsm/malay_journals/jilid49bil11_2020/KandunganJilid49Bil11_2020.html
institution Universiti Kebangsaan Malaysia
building Tun Sri Lanang Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Kebangsaan Malaysia
content_source UKM Journal Article Repository
url_provider http://journalarticle.ukm.my/
language English
description Association of STAT4 (signal transducer and activator of transcription4) haplotype tagged by single nucleotide polymorphism (SNP) rs7574865 with systemic lupus erythematosus (SLE) was reported in different populations. This study was aimed to investigate a genetic association between STAT4 single nucleotide polymorphism (rs7574865) with susceptibility and clinical features of systemic lupus erythematosus in Pakistani population. A total of 75 clinically diagnosed individuals affected with SLE were enrolled from Children’s Hospital and Institute of Child Health Lahore. Sixty-eight healthy individuals of same ethnicity were also enrolled for this study. Clinical assessment of patients was done with the help of clinical features suggestive for SLE and some diagnostic tests specific for the disease were performed. SNP rs7574865 was genotyped by allele specific tetra ARMS PCR assay to check and compare the genotypic allele frequencies between SLE patients and healthy controls. Different statistical analysis ChiSquare, Fisher’s exact tests and binary Logistic Regression is performed to determine association of risk alleles with SLE in Pakistani population. p value less than >0.05 consider significant. This study showed the frequency of GG (28%), TT (12%), and GT alleles (60%) in SLE patients while controls showed allele frequencies of GG (5%), TT (29%) and GT (64%), respectively. The results showed that GG genotype and G allele in STAT4 rs7574865 was the risk allele for SLE while T allele proved to be the protective one for disease susceptibility when compared with healthy controls genotypic frequencies. This study suggests the strong association of SNP rs7574865 in STAT4 with the risk of SLE in Pakistani population. However, G allele showed no association with organ damage and immune disorder of SLE.
format Article
author Bashir, Rasheeda
Ali, Hira
Malik, Saira
Munir, Neelma
Haq, Rukhama
Naz, Shagufta
Imran, Altaf
spellingShingle Bashir, Rasheeda
Ali, Hira
Malik, Saira
Munir, Neelma
Haq, Rukhama
Naz, Shagufta
Imran, Altaf
Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population
author_facet Bashir, Rasheeda
Ali, Hira
Malik, Saira
Munir, Neelma
Haq, Rukhama
Naz, Shagufta
Imran, Altaf
author_sort Bashir, Rasheeda
title Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population
title_short Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population
title_full Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population
title_fullStr Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population
title_full_unstemmed Association of STAT4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in Pakistani population
title_sort association of stat4 rs7574865 with sysceptibility to juvenile onset systemic lupus erythematous in pakistani population
publisher Penerbit Universiti Kebangsaan Malaysia
publishDate 2020
url http://journalarticle.ukm.my/16005/1/14.pdf
http://journalarticle.ukm.my/16005/
https://www.ukm.my/jsm/malay_journals/jilid49bil11_2020/KandunganJilid49Bil11_2020.html
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score 13.211869