PMC:3990764 / 10987-13188 JSONTXT

{"project":"2_test","denotations":[{"id":"24748859-7983231-44838026","span":{"begin":295,"end":297},"obj":"7983231"},{"id":"24748859-16880056-44838027","span":{"begin":299,"end":301},"obj":"16880056"},{"id":"24748859-12401060-44838028","span":{"begin":303,"end":305},"obj":"12401060"},{"id":"24748859-17954720-44838029","span":{"begin":1607,"end":1609},"obj":"17954720"},{"id":"24748859-12202666-44838030","span":{"begin":1739,"end":1741},"obj":"12202666"},{"id":"24748859-16350601-44838031","span":{"begin":2140,"end":2142},"obj":"16350601"},{"id":"24748859-15659004-44838032","span":{"begin":2197,"end":2199},"obj":"15659004"}],"text":"Ethnicity-specific SNPs reveals association with 3 diseases and 1 drug\nDiseases and drugs are very clinically important for understanding ethnic disparities. Many diseases and drugs have been reported to be involved in ethnic disparities, disease susceptibility, drug response, and disposition [23, 24, 25]. We curated \"SNP-Gene-Disease-Chemical-Drug\" interactions in the semantic networks for ethnicity-specific SNPs. Using these semantic \"Gene-Disease\" networks, we analyzed the functional implications of ethnic variants. There were 123 diseases associated with ethnicity-specific SNPs in common populations, 3 CEU-specific, and 46 YRI-specific, but JPT had no specified disparity between different ethnic populations (Supplementary Fig. 1A). Three diseases associated with CEU-specific SNPs were shown as phantom limb (MESH:D010591), trochlear nerve diseases (MESH: D020432), and vulvitis (MESH:D014847), while diseases associated with YRI-specific SNPs were observed, such as acquired immune deficiency syndrome (AIDS)-associated nephropathy (AIDSAN), hypertension, primary amyloidosis, and pelvic infection. AIDSAN (MESH:D016263) rates are higher in African-Americans than whites. Although the mortality and morbidity from AIDS infection are reduced, AIDSAN remains a major complication of AIDS infection (http://statgen.ncsu.edu/). Hypertension (MESH:C537095) is a disease threatening the public health in sub-Saharan Africa. In some areas, blacks exhibit higher rates of hypertension than whites. Increased salt intake and obesity are the leading causes of the prevalence of hypertension in Africa [26]. Pelvic infection (MESH:D034161) is a kind of inflammatory disease that blacks are more prone to take than other ethnic groups [27].\nBy applying the \"SNP-Gene-Disease-Chemical-Drug\" model, 2 and 14 drugs were revealed with CEU-specific and YRI-specific groups, but JPT-specific drugs had no results (Fig. 4, Supplementary Fig. 1B). One drug (methylphenidate, DB00422) was reported to have ethnic disparities in previously drug studies. The mean dose of methylphenidate is about 1.5 times higher in African-Americans than whites [28], and its use is steadily increasing in South Africa [29]."}