Khan Salim, Akter Shahina, Goswami Barna, Habib Ahashan, Banu Tanjina Akhtar, Barton Carl, Osman Eshrar, Samir Samiruzzaman, Arjuman Farida, Hasan Saam, Hossain Maqsud
Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, Dhaka, 1205, Bangladesh.
Academica Solutions, London, WA1 1RG, UK.
BMC Res Notes. 2021 Mar 20;14(1):105. doi: 10.1186/s13104-021-05514-x.
The major objective of the study was to sequence the whole genome of four Bangladeshi individuals and identify variants that are known to be associated with functional changes or disease states. We also carried out an ontology analysis to identify the functions and pathways most likely to be affected by these variants.
We identified around 900,000 common variants and close to 5 million unique ones in all four of the individuals. This included over 11,500 variants that caused nonsynonymous changes in proteins. Heart function associated pathways were heavily implicated by the ontology analysis; corroborating previous studies that claimed the Bangladeshi population as highly susceptible to heart disorders. Two variants were found that have been previously identified as pathogenic factors in familial hypercholesteremia and structural disorders of the heart. Other pathogenic variants we found were associated with pseudoxanthoma elasticum, cancer progression, polyagglutinable erythrocyte syndrome, preeclampsia, and others.
本研究的主要目的是对四名孟加拉国个体的全基因组进行测序，并识别已知与功能变化或疾病状态相关的变异。我们还进行了本体分析，以确定最有可能受这些变异影响的功能和途径。
我们在所有四名个体中鉴定出约90万个常见变异和近500万个独特变异。这包括超过11500个导致蛋白质非同义变化的变异。本体分析强烈表明心脏功能相关途径受到牵连；这证实了先前声称孟加拉国人群极易患心脏病的研究。发现了两个先前已被确定为家族性高胆固醇血症和心脏结构紊乱致病因素的变异。我们发现的其他致病变异与弹性假黄瘤、癌症进展、多凝集红细胞综合征、先兆子痫等有关。
