Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing

• Published in: Human mutation Vol. 42; no. 10; pp. 1229 - 1238
• Main Authors: Tran, Ngoc Hieu, Nguyen Thi, Thanh‐Huong, Tang, Hung‐Sang, Hoang, Le‐Phuc, Nguyen, Trung‐Hieu Le, Tran, Nhat‐Thang, Trinh, Thu‐Huong Nhat, Nguyen, Van Thong, Nguyen, Bao‐Han Huu, Nguyen, Hieu Trong, Doan, Loc Phuoc, Phan, Ngoc‐Minh, Nguyen, Kim‐Huong Thi, Nguyen, Hong‐Dang Luu, Quach, Minh‐Tam Thi, Nguyen, Thanh‐Phuong Thi, Tran, Vu Uyen, Tran, Dinh‐Vinh, Nguyen, Quynh‐Tho Thi, Do, Thanh‐Thuy Thi, Lam, Nien Vinh, Cao Thi Ngoc, Phuong, Truong, Dinh Kiet, Nguyen, Hoai‐Nghia, Phan, Minh‐Duy, Giang, Hoa
• Format: Journal Article
• Language: English
• Published: United States Hindawi Limited 01.10.2021
• Subjects: Asians; carrier frequency; carrier screening; Cohort Studies; Ethnicity; Exome - genetics; Genetic screening; Humans; Minority & ethnic groups; Phenylketonuria; Population; recessive diseases; Thalassemia; Whole Exome Sequencing; carrier frequency; carrier screening; recessive diseases
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/humu.24253

Accurate profiling of population‐specific recessive diseases is essential for the design of cost‐effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still underrepresented in existing genetic studies. Here, we reported the first comprehensive study of recessive diseases in the Vietnamese population. Clinical exome sequencing data of 4503 disease‐associated genes obtained from a cohort of 985 Vietnamese individuals was analyzed to identify pathogenic variants, associated diseases and their carrier frequencies in the population. A total of 118 recessive diseases associated with 164 pathogenic or likely pathogenic variants were identified, among which 28 diseases had carrier frequencies of at least 1% (1 in 100 individuals). Three diseases were prevalent in the Vietnamese population with carrier frequencies of 2–12 times higher than in the world populations, including beta‐thalassemia (1 in 23), citrin deficiency (1 in 31), and phenylketonuria (1 in 40). Seven novel pathogenic and two likely pathogenic variants associated with nine recessive diseases were discovered. The comprehensive profile of recessive diseases identified in this study enables the design of cost‐effective carrier screening programs specific to the Vietnamese population. Prevalent recessive diseases in Vietnam.