Abbreviations: CAD = Coronary artery disease; SNPs = Single-nucleotide polymorphisms; E2 = 17β-estradiol; T = Testosterone; A = Aromatase ABSTRACT Background: The relationship between CYP19A1 genetic polymorphisms and coronary artery disease (CAD) remains unclear. Thus, the aim of the present study was to investigate the association of CYP19A1 genetic polymorphisms with CAD in Han and Uygur populations and to characterize the association between the levels of sex hormones and aromatase with single-nucleotide polymorphisms (SNPs) in CYP19A1 genes in Chinese women. Results: There were significant differences in the genotype distributions of rs2236722 and rs4646 between CAD patients and control subjects in the Uygur population. The rs4646 was found to be associated with CAD in the dominant model (CC vs. CA + AA) and the additive model (CA vs. CC + AA) (both P ≤ 0.001). The difference remained statistically significant after multivariate adjustment (OR = 0.483, 95% CI: 0.338-0.690, P = 0.000; and OR = 1.844, 95% CI: 1.300-2.617, P = 0.001, respectively). In normal Uygur postmenopausal women, there were significant differences in the genotype distributions of rs4646 and the circulating hormone and aromatase levels between CAD patients and control subjects. The differences in estradiol and aromatase levels remained statistically significant after multivariate adjustment (OR = 0.889, 95% CI: 0.817-0.969, P = 0.007; and OR = 0.947, 95% CI: 0.936-0.957, P = 0.000, respectively). Additionally, there were differences in sex hormone levels between the different ethnicities among the Xinjiang Chinese population. Materials and Methods: Among a total of 1,064 Han individuals (614 men and 450 women) and 790 Uygur individuals (484 men and 306 women), 498 postmenopausal women (265 Han and 233 Uygur individuals) were selected. Four SNPs (rs2236722, rs2304463, rs4646, and rs4275794) were genotyped using the improved multiplex ligation detection reaction (iMLDR) technique. The estradiol and testosterone levels were determined using a radioimmunoassay based on GC-2016γ. In addition, an enzyme-linked immunosorbent assay (ELISA) was performed to determine the serum P450 aromatase levels. Conclusions: The results of this study indicate that the rs2236722 and rs4646 of the CYP19A1 gene are associated with CAD and circulating sex hormone levels in the Xinjiang population of China.

Several studies have investigated a possible association between the ABO blood group and the risk of pancreatic cancer (PC), but this association has not been fully evaluated in Asian populations. The present study aimed to assess the impact of genotype-derived ABO blood types, particularly ABO alleles, on the risk of PC in a Japanese population. We conducted a case-control study using 185 PC and 1465 control patients who visited Aichi Cancer Center in Nagoya, Japan. Using rs8176719 as a marker for the O allele, and rs8176746 and rs8176747 for the B allele, all participants' two ABO alleles were inferred. The impact of ABO blood type on PC risk was examined by multivariate analysis, with adjustment for potential confounders to estimate odds ratios (OR) and 95% confidence intervals (CI). An increased risk of PC was observed with the addition of any non-O allele (trend P = 0.012). Compared with subjects with the OO genotype, those with AO and BB genotypes had significantly increased OR of 1.67 (CI, 1.08-2.57) and 3.28 (CI, 1.38-7.80), respectively. Consistent with earlier reports showing a higher risk of PC for individuals with the non-O blood type, the previously reported protective allele (T) for rs505922 was found to be strongly correlated (r 2 = 0.96) with the O allele. In conclusion, this case-control study showed a statistically significant association between ABO blood group and PC risk in a Japanese population. Further studies are necessary to define the mechanisms by which the ABO gene or closely linked genetic variants influence PC risk. (Cancer Sci 2011; 102: 1076-1080 T he incidence of pancreatic cancer (PC) is increasing in Japan, and this cancer is now the sixth leading cause of cancer death.(1,2) Early detection of PC in its operable stage is difficult and curative treatment such as complete surgical removal is limited, which together give PC a 5-year relative survival rate of only 5.5%.(3) This suggests that epidemiological approaches to predicting the risk of PC may play an important role in identifying PC high-risk groups and ultimately decreasing the number of PC deaths.Risk factors for PC include advancing age, smoking, obesity, diabetes mellitus, family history of PC, alcohol consumption and chronic pancreatitis. (2,(4)(5)(6)(7)(8) Recently, a large prospective cohort study also showed a statistically significant association between ABO blood type and risk of PC.(9) Specifically, this study suggested that people with blood type O have a lower risk of PC than those with blood type A, B or AB. A genome-wide association study (GWAS) comparing PC cases and controls (PanScan), which includes the forementioned prospective cohort study population, (9) identified a single-nucleotide polymorphism (SNP) within the first intron of the ABO gene (rs505922) that was associated with PC risk.(10) Furthermore, using almost the same population as PanScan, Wolpin et al. (11) reported that the ABO blood type could be inferred from two SNPs (rs505922 and rs8176746), and concluded the relationship between PC risk a...

We examined human leucocyte antigen (HLA) gene polymorphisms in the Maonan people from southern China. HLA-A, -B and -DRB1 alleles were determined in 108 healthy unrelated Maonan individuals by the polymerase chain reaction-Luminex method, and haplotype frequencies for HLA-A, -B and -DRB1 loci were estimated. The most frequent HLA-A alleles were A*1101 (35.2%), A*0203 (17.6%), A*0207 (13.4%) and A*2402 (13.4%); HLA-B alleles were B*1301(19.9%), B*1502 (14.8%), B*4601 (13.4%) and B*4001 (13.4%); HLA-DRB1 alleles were DRB1*1202 (17.1%), DRB1*1602 (13.0%) and DRB1*1401 (10.7%). The most common haplotypes were A*0207-B*4601 (10.6%), A*1101-B*1301 (10.0%), A*1101-B*4001 (8.4%), B*1502-DRB1*1202 (12.0%), B*4601-DRB1*1401 (5.8%), A*1101-B*1502-DRB1*1202 (7.1%) and A*0207-B*4601-DRB1*1401 (5.3%), profiles that are also found in populations from the southern region of East Asia. Phylogenetic and principal component analyses revealed that the Maonan people belong to the southeastern Asian group and are most closely related to the Buyi people.

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