Genetic Homozygosity...sources of risks for Human disease

posted Sep 16, 2015, 2:39 AM by Vinod Scaria   [ updated Sep 21, 2015, 2:13 AM by SRamachandran Igib ]
Anil K. Giri, Research Scholar, CSIR-IGIB.....

Genetic homozygosity (similarity between chromosomes inherited from mother and father) could bring devastating health conditions like hemophilia and sickle cell anemia. It is commonly held that homozygosity arising due to inbreeding, decreases evolutionary fitness. Our group from CSIR-IGIB participated in a large global collaborative project investigated effects of homozygosity on 16 clinically important phenotypes including height, obesity, type 2 diabetes related phenotypes, dyslipidemia, hypertension, lung function, education attainment etc. The study included 3,54,224 human subjects from 102 cohorts such as INdian DIabetes COnsortium (INDICO) and subjects from Delhi and nearby areas. Ours was the third largest cohort in this study. The results of the study showed that homozygosity diminishes height, cognition, education attainment and lung function but apparently has no role in diabetes onset, obesity, dyslipidemia and hypertension. The new insights gained from this study could be informative in our marriage patterns where inbreeding is high because of preference for same cast and community.

Joshi PK, ..............., Giri AK, ................. Bharadwaj D, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 2015 Jul23;523(7561):459-62. doi: 10.1038/nature14618. Epub 2015 Jul 1.