Review of genetic studies conducted among Mongolians

Abstract

Background: The past decades have witnessed growing interest in genetic predisposition to common diseases and along with rapid advancements in high-throughput genotyping technology, has resulted in a tremendous amount of published epidemiological evidence on gene-disease associations. Since 1995, the linkage and genetic associations studied were conducted for SNPs, mutations and other genetic variations among Mongolians. Conducting of the studies has come an increasing need to collate and summarize the evidence in order to identify true genetic associations. But there is still no comprehensive link between them and a unified database for the genetic markers. Aim: To collate and summarize all research works and the genetic variations of candidate genes, associated with disease. Materials and Methods: A search strategy was performed in an attempt to identify all studies of genetic factors and disease risk from the case-control, cross-sectional, linkage, case studies and genetic association studies. All researches were classified into three different groups, (1) the genetic comparison studies conducted among Mongolians, (2) the genetic studies of rare inheritance disorders and (3) the genetic association studies of common disease. Results: There were eight genetic comparison studies then we found haplotype groups, STR markers of XY chromosomes and HLA alleles, which are significantly different in Mongolians. The linkage and case studies were performed for 15 different rare inheritance disorders and totally 91 variation were screened. They found 44 variations of 14 genes in the patients and their families. For the genetic association studies, totally 71 polymorphisms were investigated with 19 different diseases. ApoA5 rs662799 (T/C+C/C, OR=1.87; 95% CI, 1.17-3.01; p=0.01), PGC-1α rs8192678 (G/G, OR=2.12; 95% CI, 1.09-4.13; p=0.027), LPL rs285 (C/C, OR=3.02; 95% CI, 1.61-5.63; p=0.0005), ADIPOQ rs2241766 (T/G, OR=2.27; 95% CI, 1.42-3.64; p=0.0006) polymorphisms were found as significantly risk factor for Metabolic syndrome. 19 polymorphisms were associated with COPD, asthma, age-related macular degeneration, lung cancer, breast cancer, osteoporosis, diabetes and epilepsy, were summarized. Conclusion: With this study, we performed primary review and found some genetic associations. Further, we will need more evidence and review studies for identify true effect and address candidate genetic markers that increasing risk of the disease among Mongolians.