Fine-Mapping of ABO Gene Identifies Two Novel SNPs Associated with Large Artery Atherosclerotic Stroke in a Chinese Han Population

A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in Chinese south men

“…ABO encodes proteins related to the first discovered blood group system. The abnormal expression or polymorphism of this gene are correlated with several body dysfunction, such as ischemic stroke [43], large artery atherosclerotic stroke [44] and pancreatic cancer [45].…”

A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in Chinese south men

“…For example, ABO gene located around 9q34.2, encodes glycosyltransferases related to the first discovered ABO blood group system [43]. The abnormal expression or polymorphism of this gene is correlated with several body dysfunctions, such as ischemic stroke [44], large artery atherosclerotic stroke [45] and pancreatic cancer [46]. CYP19A1 gene located on 15q21.2, encodes key enzyme for estrogen biosynthesis.…”

Association of ABO Polymorphisms and Cancer/Cardiocerebrovascular Disease: a Meta-analysis

“…Therefore, more studies with different ethnic background and larger sample size are needed in the future. rs657152 is located in the intron area of ABO, thus it may affect gene transcription and shearing [23]. In addition, rs657152 has been found to be associated with several biological molecule, including LDL cholesterol [26], liver derived alkaline phosphatas [27], and IL-6 [28].…”

“…Eleven studies reported the association between rs505922 and cancer risk [1,2,[8][9][10][15][16][17][18][19][20] and four studies reported the association between rs657152 and cancer risk [9,10,19,21]. Six studies included nine populations reported the association of cardiocerebrovascular diseases with rs505922 [11,12,[22][23][24][25], and three studies with rs657152 [11,12,24]. Detailed characteristics and genotype distribution of included articles for two SNPs were shown in Table 1 and Table 2.…”

“…According to the source of control groups, nine studies were population-based (PB), six studies were hospital-based (HB), and two studies were population and hospital-based(PB/HB) control. For SNP rs505922, ten studies were from Caucasian population [1,2,8,10,12,15,16,20,22,24], four studies were from Asian [9,17,23,25] and three studies were from Mixed and African [11,18,19]. For the rs657152 polymorphism, there were four studies originating from Caucasian [10,12,21,24], and three studies were from Asian and African or Mixed population [9,11,19].…”