Genetics of ulcerative colitis: putting into perspective the incremental gains from Indian studies

Journal of genetics

AJIT SOOD^2¹  VANDANA MIDHA^2²  GARIMA JUYAL^1³ 

[1] Dayanand Medical College and Hospital, Ludhiana 141 001, India^2;Department of Genetics, University of Delhi South Campus, New Delhi 110 021, India^3;School of Biotechnology, Jawaharlal Nehru University, New Delhi 110 067, India^1

关键词: ulcerative colitis;    inflammatory bowel disease;    genetic heterogeneity;    Indian population;    genomewide association studies.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

Ulcerative colitis (UC), one of the two clinical subtypes of inflammatory bowel disease is perceived as a potential 'sleeping giant' in the Indian subcontinent. Clinical manifestation is overall believed to be the same across ethnic groups but overwhelming genetics from large European and fewer non-European studies have revealed shared as well as unique disease susceptibly signaturesbetween them, pointing to population specific differences at genomic and environmental levels. A systematic recount of the four major eras in UC genetics spanning earliest linkage analysis, cherry picked candidate gene association studies, unbiased genomewide association studies, their logical extension in trans-ethnic setting (Immunochip study), lastly whole exome sequencing efforts forrare variant burden; and lessons learnt thereof in context of genetically distinct Indian population was attempted in this review. Genetic heterogeneity manifesting at allelic/locus level across these approaches has been the consistent finding through the range of pan India studies. On the other hand, these salient findings also highlight the limitations of even the best of these genetic leadsfor prognostic/clinical application. The imminent need, therefore, for the UC research community to adopt newer approaches/tools with improved study design to (i) gain better insight into genetic/mechanistic basis of disease; (ii) identify biomarkers of immediate translational value; and (iii) develop new/alternate therapeutic options is emphasized at the end.

【 授权许可】

CC BY