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Journal : jurnal kesehatan reproduksi

UNCOVERING PATHOGENIC MISSENSE VARIANTS IN ENDOMETRIOSIS USING A GENOME-WIDE ASSOCIATION STUDY Nurullita Santri, Ichtiarini; Adikusuma, Wirawan; Theda Philothra, Petrina; Fadhliati Maulida, Nurul; Chong, Rockie; Ates, Ilker; Vincent Abero Phiri, Yohane; Muhammad Irham, Lalu
JURNAL KESEHATAN REPRODUKSI Vol 16 No 2 (2025): JURNAL KESEHATAN REPRODUKSI VOLUME 16 NOMOR 2 TAHUN 2025
Publisher : IAKMI South Tangerang Branch

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.58185/jkr.v16i2.407

Abstract

Background: Endometriosis is a complex gynecological disorder with a strong genetic component. Although genome-wide association studies (GWAS) have identified numerous risk loci, the functional interpretation of protein-altering missense variants remains limited. Objective: This study identified pathogenic missense variants linked to endometriosis risk using publicly available GWAS data and explored implications for genetic risk detection, particularly in underrepresented populations such as Indonesia. Methods: Endometriosis-associated missense single nucleotide polymorphisms (SNPs) were identified from GWAS data, and a total of eight missense SNPs were analyzed. Functional effects were evaluated in silico using PolyPhen-2 and SIFT. Allele frequency distributions were assessed across global populations, and pathway enrichment analysis was conducted using the Reactome database. Results: Several missense variants were significantly associated with increased endometriosis risk (e.g., rs75801644, OR = 3.88; rs144824657, OR = 3.52), while rs2341097 showed a potential protective effect. Functional prediction prioritized variants in genes such as KCNG2 and BSG as potentially damaging. Population analyses revealed marked allele frequency differences, and enriched pathways were related to potassium channel activity, metabolism, extracellular matrix organization, and signal transduction. Conclusion: This study identifies missense variants contributing to endometriosis susceptibility and provides insight into biological pathways. Further experimental validation and clinical studies are warranted.
Co-Authors Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Adi Wira Septama Adnan Adnan Afief, Arief Rahman Ageng Brahmadhi Akrom, Akrom Ana Hidayati Anisa Devi Kharisma Wibowo Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anita Silas La’ah Any Guntarti Arief Rahman Afief Arief Rahman Afief Arief Rahman Afief Ates, Ilker Auren Nathania Ayu Lifia Nur Kartikasari Azzahra, Fara Barkah Djaka Purwanto Barkah Djaka Purwanto Bramadi Arya Cheung, Rocky Chita Widia Chong, Rockie Citra Ariani Edityaningrum, Citra Danang Prasetyaning Amukti Darmawi . Darmawi Darmawi Daud, Intan Delfi Iskardyani Denys Chichi Kusumastuti Dewi Anggraini Didik Setiawan Donel S Dyah Aryani Perwitasari Ekadinata, Nopryan Eko Mugiyanto Fadhliati Maulida, Nurul Faridah, Imaniar Febriana Astuti Firdayani Firdayani Firdayani Firdayani, Firdayani Firman Firman Fitri, Dwiki Fredrick Dermawan Purba Galuh, Tiwi Gina Noor Djalilah Gustinanda, Rizky Haafizah Dania Haafizah Dania Haafizah Dania Handayani, Eka Wuri Hanisari, Putri Henry Budiawan Prasetya Herjanti Ratnawiningsih Herlina, Tetie Ichsan Luqmana Indra Putra, Ichsan Luqmana Indra Ilham Alifiar Ilham alifiar Imaniar Noor Faridah Imaniar Noor Faridah Imaniar Noor Faridah Iwan Santoso, Iwan Kartikasari, Ayu Lifia Nur Khair, Riat Khairi, Sabiah Khairurrizki, Amanda Khoiriyah Isni Khusnul Khotimah La Malihi Laela Hayu Nurani La’ah, Anita Silas Leina Putri Zahra Lisza Niarisessa Lolita Ma'ruf, Muhammad Made Ary Sarasmita Maliza, Rita MARIA BINTANG Maulida Mazaya Ma’ruf, Muhammad Medi Sushanti, Nining Melodia Rezadhini Melodia Rezadhini Menit Ardhiani Menit Ardhiani Muh. Deni Kurniawan Muhammad Fathurrahman Muhammad Ma'ruf Muhammad Yusron Maulana El-Yunusi Musfirah Musfirah Mutmainnah Siradjuddin Nanik Sulistyani Nathania, Auren Ni Made Ary Sarasmita Nining Medi Sushanti Nining Medi Sushanti Nining Sugihartini Novi Febrianti Novriyanti, Adisti Putri Nugraha, Media Fitri Isma Isma Nur Ismiyati Nur Rahayuningsih Nurani, Erla Nurullita Santri, Ichtiarini Pendicho Eko Yuliyanto Phiri, Yohane Vincent Abero Pradika, Jaka Pranata, Satria Pratama, Kharisma Puriyanto, Riky Dwi Purwanto, Barkah Djaka Puspitaningrum, Anisa Nova Rafiastiana Capritasari Rahmat Dani Satria Rangkuti, Ahmad Faizal Razali, Renardy Reza Renardy Reza Razali Rezadhini, Melodia Ria Indah Pratami Riat El Khair Riat Khair Rizka Novia Atmadani Rockie Chong Rocky Cheung Rocky Cheung Rocky Cheung Roza, Putri Diana Rudi, Nyoman S, Donel S, Yuni Salamah, Siti Hajar Santri, Ichtiarini Nurullita Sany Sapto Yuliani Saputri, Septiana Satria, Rahmat Dani Sianu, Rahman Sianu, Rahman S Simanjuntak, LB Siswahyudianto Siswandi Siswandi, Siswandi Siswanto, Lalu Muhammad Harmain Siti Fatimah Sultan Siti Rofida Siti Rohmah Siti Urbayatun Solikhah Solikhah, EfA Wakhidatus Sugiyanto - Suhandri, Wiwin Suhendra, Gugun Sulistiyani, Nanik Susan Fitria Candradewi Theda Philothra, Petrina Triantoro Safaria Triantoro Safaria Uswatun Chasanah Vincent Abero Phiri, Yohane Wahyu Rahmatulloh Wahyu Widyaningsih Wahyu Widyaningsih Wibowo, Anisa Devi Karisma Widyastuti, Lina Wigka Pawestri, Novianti Winarto Winarto Winarto Winarto Wirawan Adikusuma Wiwin Suhandri Wiwit Ade Fidiawati Wiwit Ade Fidiawati Woro Supadmi Woro Supadmi Wulandari, D Yudha Rizky Nuari Yuniar Wardani Zahra, Leina Putri Zainul Amiruddin Zakaria Zakaria, Zainul Amiruddin Zukhruf Saputri, Ginanjar