지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.6
- 수록면
- 190 - 195 (6page)
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초록· 키워드
오류제보하기
Hemoglobin (Hb) concentrations and hematocrit (Hct) values can be changed by factors such as erythrocyte production, destruction, and bleeding. In addition, variants in the protein expression involved in the amount of red blood cells that determine Hb metabolism or Hct value can increase susceptibility to complex blood diseases. Previous studies have reported significant single nucleotide polymorphisms (SNPs) by applying a genome-wide association study (GWAS) on Hb levels and Hct values in European population. In this study, we confirmed whether the significant SNPs are replicated in Koreans. In previous studies, 26 and 18 SNPs with a significant correlation Hb and Hct were identified in Korean genotype data, and 21 and 12 SNPs were selected, respectively. The SNPs of PRKCE (rs10495928), TMPRSS6 (rs2235321, rs5756505, rs855791) were significantly associated with Hb (P＜0.05). In the association analysis of Hct, the SNPs of HBS1L (rs6920211, rs9389268, rs9483788), PRKCE (rs4953318), SCGN (rs9348689) and TMPRSS6 (rs2413450) genes showed a significant correlation (P＜0.05). Replicated SNPs and not replicated SNPs showed the difference of genetic distance calculated by Fst. The replicated SNPs with a significant correlation showed similar allele frequencies, whereas the not replicated SNPs showed a large difference in allele frequency. All replicated SNPs with significant correlations had Fst values less than 0.05, indicating that the genetic distance between the groups was close. On the other hand, the not replicated SNPs showed that the Fst value was 0.05 or more and the genetic distance was relatively large.
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등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Amr K / 2019 / Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family / Mol Genet Genomic Med :e777
Capra AP / 2017 / A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype / Hematology 22:559~564
Chen Z / 2013 / Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network / Hum Mol Genet 22:2529~2538
Cho YS / 2009 / A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits / Nat Genet 41:527~534
Choi HS / 2012 / A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia / Pediatr Blood Cancer 58:640~642
Capra AP / 2017 / A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype / Hematology 22:559~564
Chen Z / 2013 / Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network / Hum Mol Genet 22:2529~2538
Cho YS / 2009 / A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits / Nat Genet 41:527~534
Choi HS / 2012 / A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia / Pediatr Blood Cancer 58:640~642
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UCI(KEPA) : I410-ECN-0101-2019-510-000875047