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Integration of genomic databases and bioinformatic approach to identify genomic variants for sjogren’s syndrome on multiple continents Puspitaningrum, Anisa Nova; Perwitasari, Dyah Aryani; Adikusuma, Wirawan; Djalilah, Gina Noor; Dania, Haafizah; Maliza, Rita; Faridah, Imaniar Noor; Sarasmita, Made Ary; Rezadhini, Melodia; Cheung, Rocky; Irham, Lalu Muhammad
Media Farmasi: Jurnal Ilmu Farmasi Vol. 19 No. 2: September 2022
Publisher : Universitas Ahmad Dahlan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.12928/mf.v19i2.23706

Abstract

An autoimmune disorder is an abnormality that causes a disease. It is caused by a weakened immune system. One of the autoimmune diseases is Sjogren’s syndrome, which affects the salivary and lacrimal glands and causes dry mouth, dry eyes, and dry skin. Sjogren’s syndrome influences humans of every age, with the symptoms occurring at the age of 45–55 years and rarely in children. One of the factors causing Sjogren’s syndrome is genetic disorders. To identify genes that can influence Sjogren’s syndrome in this study, we used several databases, including GWAS Catalog, HaploReg Version 4.1, GTEX portal, and Ensembl, particularly to identify the gene expression profiles of TNIP1, TNFAIP3, and IRF5 and the quantitative properties of locus’ expression. This research showed that the missense variants and splice donor rs2233290, rs2230926, and rs2004640 influenced the susceptibility of autoimmune diseases, especially Sjogren’s syndrome, in the fibroblast tissue, sigmoid tissue, sigmoid colon, skin, esophagus, and adrenal glands. The allele frequency of each variant was then assessed in African, American, European, and Asian populations. Our data showed that TNIP1, TNFAIP3, and IRF5 genes in African and American populations had higher frequencies than in the Asian population. This implies that the last of the aforementioned populations might be relatively susceptible to the autoimmune disease Sjogren’s syndrome.
Co-Authors A.A.R Karsana A.H Jaya Anisa Nova Puspitaningrum Cahyadi, Maria Fiani Cahyadi, Maria Fiani Cheung, Rocky Cia Intania Warnaya Dewantara Putra, I Gusti Ngurah Agung Dyah Aryani Perwitasari Dyah Kanya Wati Eka Indra Setyawan Fajaryani, Putu Ayu Putri Gina Noor Djalilah Haafizah Dania Haafizah Dania Hendra Jaya A. I Dewa Agung Ayu Divacandraningrat I GUSTI A. A. E. AMANDARI I Gusti Ayu Artini Ekajaya Amandari I Gusti Ngurah Agung Dewantara Putra I Made Agus Gelgel Wirasuta i made suardhika I Wayan Karta I Wayan Karta I. G. A. A. E. AMANDARI Ida Ayu Jasminarti Dwi Kusumawardani Ida Ayu Sintya Deviyanthi Ida Bagus Ngurah Rai Imaniar Noor Faridah Imaniar Noor Faridah Kadek Nadia Marta Dewi Kosasih, Diah Ayu Nirmala Kosasih, Diah Ayu Nirmala Lalu Muhammad Irham Larasaty, Luh Putu Febryana Lestari, N. K. S. Luh Putu Ayu Meryta Luh Putu Febriana Larasanty Luh Putu Febryana Larasanty Luh Putu Febryana Larasaty M. W.KRISNAYANTI MADE WINDA KRISNAYANTI Made Winda Krisnayanti Maliza, Rita Maria Fiani Cahyadi Melodia Rezadhini N. K. S. Lestari N. M. R. A. M Samba N. N. F. Sukarmini N. P. U. S. DEWI N.N.S.M. Arwanawati Ni Luh Putu Eka Arisanti Ni Made Ayu Wistari Ni Made Rai Sudarni Ni Nyoman Abigail Triastuti Ni Nyoman Della Yanti Ni Putu Ayu Widiasari Ni Putu Linda Laksmiani NI PUTU U. S. DEWI Ni Putu Uma Sari Dewi Ni Wayan Candrawati Ni Wayan Wirayanti P.B.P.P. Budiartha P.C.I. Warnaya Pande Made Nova Armita Sari, Pande Made Nova Puspitaningrum, Anisa Nova Putu Indah Budi Apsari Rezadhini, Melodia Rocky Cheung Samba, N. M. R. A. M Sari, Ni Putu Latsartika Sari, Ni Putu Latsartika Sudarni, Ni Made Rai Sudarni, Ni Made Rai Sukarmini, N. N. F. Wayan Risma Iswari Wirawan Adikusuma Wistari, Ni Made Ayu Wistari, Ni Made Ayu