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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 Adrian A. Kaptein Afief, Arief R. Afief, Arief Rahman Ageng Brahmadhi Anak Agung Gede Sugianthara Ananda, Dwi Rizki Andayani, Gitalisa Andi Arus Victor Anisa Devi Kharisma Wibowo Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anita Silas La’ah Anna Pradiningsih Anna Pradiningsih Annisa Abdi Ghifari Arfianti Arfianti Arief Rahman Afief Arief Rahman Afief Arief Rahman Afief Asamuni, GJ Rahma Dewi Ates, Ilker Auralia, Najma Auren Nathania Ayu Fatmala Ayu Lifia Nur Kartikasari Ayuningtyas, Sita Paramita Baiq Leny Nopitasari Baiq Lenysia Puspita Anjani Baiq Nurbaety Barkah Djaka Purwanto Barkah Djaka Purwanto BENNI ISKANDAR Cheung, Rocky Chong, Rockie Cyntiya Rahmawati Danang Prasetyaning Amukti Darmawi Darmawi . Darmawi Darmawi Dewi Anggraini Djatikusumo, Ari Donel S Dyah A. Perwitasari Dyah Aryani Perwitasari Ekadinata, Nopryan Eko Mugiyanto Eko Satria Putra Fadhliati Maulida, Nurul Firdayani Firdayani Firdayani Firdayani, Firdayani Firman Firman Fita Yuliana Fitri, Dwiki Furqani, Nur Gina Noor Djalilah GJ Rahma Dewi Asamuni Haafizah Dania Haafizah Dania Haafizah Dania Hamidy, Muhammad Y. Harlena, Filza Amara Kamila Henry Budiawan Prasetya Herjanti Ratnawiningsih Hutapea, Mario Marbungaran Imaniar Noor Faridah Imaniar Noor Faridah Indri Istiqomah Irham, Lalu M. Irmatika Hendriyani Kartikasari, Ayu Lifia Nur Kemal, Rahmat A. Khair, Riat Khairi, Sabiah Khoiriyah Isni La Malihi Lalu Muhammad Irham La’ah, Anita Silas Leina Putri Zahra Lisza Niarisessa Made Ary Sarasmita Maliza, Rita MARIA BINTANG Maulida Mazaya Maulida, Khelda Maya Savira Ma’ruf, Muhammad Medi Sushanti, Nining Melodia Rezadhini Melodia Rezadhini Moch. Saiful Bachri Muhammad Faqih Muhammad Hafizh Abiyyu Fathin Fawwazi Muhammad Ma'ruf Muhammad Yulis Hamidy Muhammad Yusuf Musfirah Musfirah Nanik Sulistyani Nathania, Auren Nazhipah Isnani Ni Made Ary Sarasmita Nining Medi Sushanti Nining Medi Sushanti Nopitasari, Baiq Leny Nugraha, Media Fitri Isma Isma Nur Furqani Nurani, Erla Nurfi Pratiwi, Nurfi NURUL AZIZAH Nurul Hidayatullah Nurul Qiyaam, Nurul Nurullita Santri, Ichtiarini Ocktariyana, Ocktariyana Pendicho Eko Yuliyanto Phiri, Yohane Vincent Abero Pranata, Satria Purwanto, Barkah Djaka Puspita Anjani, Baiq Lenysia Puspita Puspitaningrum, Anisa Nova Putu Gede Suriya Gunawan Rachmadina, Rachmadina Rahmat Dani Satria Rahmatullah, Satrio Wibowo Rahmawati, Cyntiya Rangkuti, Ahmad Faizal Rangkuti, Ina F. Razali, Renardy Reza Renardy Reza Razali Rezadhini, Melodia Ria Indah Pratami Riat El Khair Riat Khair Rihhadatul Aisy Risma Widia Ningsih Riza Alfian Rockie Chong Rocky Cheung Rocky Cheung Rocky Cheung Roza, Putri Diana S, Donel Safwan Safwan Safwan Safwan Saksono, Reni Yustiati Samsul Hadi Sandi, Dita Aulia Dwi Santri, Ichtiarini Nurullita Satria, Rahmat Dani Setiawan, Feri Shoma Rikifani Sianu, Rahman S Sierly, Nadia Siswanto, Lalu Muhammad Harmain Soraya Soraya Suhandri, Wiwin Theda Philothra, Petrina Tiara Fani, Rifia Tien Partini Tri Murti Andayani Ulfah, Aida J. Uswaton Hasanah Vincent Abero Phiri, Yohane Winarto Winarto Winarto Winarto Wiwin Suhandri Wiwit Ade Fidiawati Wiwit Ade Fidiawati Woro Supadmi Woro Supadmi Yudantha, Anggun Rama Yudha Rizky Nuari Yuniar Wardani Zahlina, Dian Zahra, Leina Putri Zainul Amiruddin Zakaria Zakaria, Zainul Amiruddin