ABO blood group alleles and genetic recombination

Suzuki, Koichi

doi:10.1016/j.legalmed.2005.02.004

Cited by 11 publications

(14 citation statements)

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“…Although methods for determining blood type on the basis of a subject's DNA are well established (21,46,47), measurement error and exposure misclassification might have occurred. Additionally, the non-deletion-type O allele and cis-AB allele could not be detected with our method, albeit that these are extremely rare among Japanese (20,21,23). Third, we did not assess the HP infection status of GC cases.…”

Section: Discussionmentioning

confidence: 89%

“…Those loci are responsible for the ABO blood group phenotype in the Japanese population. Examination of the cDNA nucleotide sequence of the ABO gene on chromosome 9q34.2 revealed the following for the Japanese population: a 261G deletion in exon 6 (rs8176719) results in the O allele, and C796A and G803C in exon 7 (rs8176746 and rs8176747, respectively) distinguish the B allele from A allele (20)(21)(22)(23). DNA of each subject was extracted from the buffy-coat fraction by using the DNA Blood Mini Kit (Qiagen).…”

Section: Selection and Genotyping Of Abo Blood Group Allelementioning

confidence: 99%

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ABO Genotype and the Risk of Gastric Cancer, Atrophic Gastritis, and Helicobacter pylori Infection

Nakao

Matsuo

Ito

et al. 2011

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Although several studies have investigated the association between ABO blood type and risk of gastric cancer (GC), atrophic gastritis (AG), and Helicobacter pylori (HP) infection, no study has investigated these associations by using ABO genotype.Methods: We conducted a case-control study in 703 patients with GC and 1,465 noncancer patients. We also conducted a cross-sectional study by using 1,406 of these 1,465 controls, who were examined for pepsinogens and anti-HP IgG antibody levels in serum. ABO genotype was determined from single nucleotide polymorphisms in ABO gene. We used rs8176719 to mark the O allele, and rs8176746 and rs8176747 to mark the B allele. ORs and 95% CIs were calculated by a multivariate logistic model.Results: We observed significant associations between ABO genotype and GC, AG, and HP infection. ORs (95% CIs) of GC were 0.70 (0.50-0.99) for OO and 0.53 (0.36-0.77) for BO relative to AA genotype. An increased risk of GC was observed with addition of the A allele (P trend < 0.001), and a decreased risk with that of the B allele (P trend ¼ 0.023). An OR of AG was 0.73 (95% CI, 0.53-0.99) for blood type B relative to blood type A, and an OR of HP infection was 0.39 (95% CI, 0.17-0.87) for BB relative to AA genotype.Conclusion: This study identified a statistically significant association between ABO genotype and GC risk. In addition, ABO gene locus may influence AG prevalence and HP infection.Impact: Further studies are necessary to confirm these findings. Cancer Epidemiol Biomarkers Prev; 20(8); 1665-72. Ó2011 AACR.

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Section: Discussionmentioning

confidence: 89%

Section: Selection and Genotyping Of Abo Blood Group Allelementioning

confidence: 99%

ABO Genotype and the Risk of Gastric Cancer, Atrophic Gastritis, and Helicobacter pylori Infection

Nakao

Matsuo

Ito

et al. 2011

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…All genes diversify by nucleotide substitutions (sense, missense or nonsense), deletions, or insertions; however, a significant number of alleles of ABO , GYPA / GYPB, and RHCE / RHD genes originate through gene recombination such as gene conversions or unequal crossovers. This is discussed in a number of articles [5,16,17,18]. GYPA / GYPB , RHCE / RHD, and FUT1 / FUT2 form duplicated/multiple gene families, whereas ABO and KEL are single copy genes.…”

Section: Some Observations On the Nature Of Variations In Genes Of Blmentioning

confidence: 99%

“…FUT1 , FUT2, and a FUT2 -like pseudogene reside in close vicinity on chromosome 9, but, in contrast to the duplicated GYPA / GYPB and RHCE / RHD genes, FUT1/FUT2 alleles resulting from gene recombination seem to occur much less frequently (4 of the 113 documented in BGMUT). In case of ABO , gene recombination most likely occurs at meiosis and this occasionally results in a change of the ABO serotype of the fetus causing a problem in paternity identification [18]. KEL alleles draw attention because the nucleotide changes in about 40% result in a K₀ or a null phenotype; two thirds of such mutations are nonsense or affect splicing.…”

Section: Some Observations On the Nature Of Variations In Genes Of Blmentioning

confidence: 99%

BGMUT Database of Allelic Variants of Genes Encoding Human Blood Group Antigens

Patnaik

Helmberg

Blumenfeld

2014

Transfus Med Hemother

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The Blood group antigen Gene MUTation (BGMUT) database documents variations in genes of human blood group systems. In March 2014, the database, accessible at www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut, listed 1,545 alleles of 44 genes of 34 blood group systems. Besides allelic information, the BGMUT resource also presents comprehensive and current information on blood group systems. This review describes the database and notes its utility for the transfusion medicine and human genetics communities.

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“…( 16–19 ) Upon examination of the cDNA nucleotide sequence of the ABO gene on chromosome 9q34.2, the following has been found for the Japanese population: a 261G deletion in exon6 (rs8176719) results in the O allele and C796A and G803C in exon7 (rs8176746 and rs8176747, respectively) distinguish the B allele from the A allele. ( 16–20 ) The DNA of each subject was extracted from the buffy coat fraction using a DNA Blood Mini kit (Qiagen, Tokyo, Japan). All loci were examined by TaqMan assays (Applied Biosystems, Foster City, CA, USA).…”

mentioning

confidence: 99%

ABO blood group alleles and the risk of pancreatic cancer in a Japanese population

et al. 2011

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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...

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ABO blood group alleles and genetic recombination

Cited by 11 publications

References 47 publications

ABO Genotype and the Risk of Gastric Cancer, Atrophic Gastritis, and Helicobacter pylori Infection

ABO Genotype and the Risk of Gastric Cancer, Atrophic Gastritis, and Helicobacter pylori Infection

BGMUT Database of Allelic Variants of Genes Encoding Human Blood Group Antigens

ABO blood group alleles and the risk of pancreatic cancer in a Japanese population

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