Haptoglobin genotyping of Vietnamese: Global distribution of HPdel, complete deletion allele of the HP gene

Soejima, Mikiko; Agusa, Tetsuro; Iwata, Hisato; Fujihara, Junko; Kunito, Takashi; Takeshita, Hitoshi; Lan, Vi Thi Mai; Minh, Tu Binh; Takahashi, Shin; Trang, Pham Thi Kim; Viet, Pham Hung; Tanabe, Shinsuke; Koda, Yoshiro

doi:10.1016/j.legalmed.2014.08.004

Cited by 13 publications

(7 citation statements)

References 26 publications

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“…Tibetans and Han Chinese were reported to share relatively recent (7,000-10,000 years ago) Y and mitochondrial DNA haplotypes 37,38 . If individuals with HP del had migrated to Tibet 7,000-10,000 years ago, this allele would be distributed in Tibet unless it has a deleterious effect on highlanders or it was neutral in these populations and became extinct due to genetic drift, as described in a previous study 18 . Considering these findings, the HP del allele seems to have been generated relatively recently somewhere in China and spread to East and Southeast Asians in a relatively short time period.…”

Section: Discussionmentioning

confidence: 84%

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Haptoglobin polymorphisms in Latin American populations

Soejima

Koda

2020

Sci Rep

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were also divided into four groups, group 1 (all 45 AA/AA, AA/CA, CA/CA), group 2 (26 of 42 AA/AG), group 3 (16 of 42 AA/AG and all of 10 AG/CA), and group 4 (all of 25 AG/AG) (Fig. 1C,D). One individual had a rare base substitution at position of − 68 (rs55663121) as a heterozygote (T/C). The genotype of this individual was A/A at rs5471 and rs5472, and it belonged to group 3 of rs5471and group 1 of rs5472. In any case, we determined six rs5471 and rs5472 haplotypes accurately except one subject (heterozygote of rs55663121) when we comprehensively considered both HRM results for rs5471 and rs5472 (Table 1). We then determined the haplotypes of rs5471 and rs5472 in 416 Latin American individuals (Table 2).

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Section: Discussionmentioning

confidence: 84%

“…HP del homozygotes are at risk for developing anaphylactic transfusion reactions if they produce antibodies (IgE) to HP 9,10 . This allele has been found only in East and Southeast Asian populations so far 8,9,[11][12][13][14][15][16][17][18][19] .…”

Section: Several Genetic Polymorphisms Of the Haptoglobin Gene (Hp) Omentioning

confidence: 96%

Haptoglobin polymorphisms in Latin American populations

Soejima

Koda

2020

Sci Rep

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“…The homozygous allelic deletion for HP ( HP del ) is also known to occur, albeit at a very low frequency. 28 An intragenic duplication of exons 3 and 4 of the ancestral HP gene produced HP2 , 29 yielding 3 genotypes: HP1-1, HP1-2, and HP2-2. 19 HP1 and HP2 differ in their ability to clear HB and differ functionally in their ability to protect from HB-induced oxidative stress.…”

Section: Discussionmentioning

confidence: 99%

Haptoglobin Gene Expression and Anthracycline-Related Cardiomyopathy in Childhood Cancer Survivors

Singh

Crossman

Zhou

et al. 2023

JACC: CardioOncology

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“…Real‐time PCR was chosen for Hp genotype determinations in our study because Western blot and conventional PCR methods are time‐consuming and requires laborious electrophoresis steps which may not be suitable for high‐throughput Hp genotyping. Since previous studies demonstrated Hp del allele is only restricted to East and Southeast Asians , only HP2 and HP5′ probes but not HP del probe were applied to determine Hp 1‐1, Hp 2‐1, and Hp 2‐2 genotypes in our real‐time PCR. Rather than virtualizing DNA or protein bands through labor intensive electrophoresis in convention PCR or Western blot , the Hp 2‐1 and Hp 2‐2 genotypes were relatively easy to be differentiated by the reproducible difference of Ct value (close to 1) in our real‐time PCR.…”

Section: Discussionmentioning

confidence: 99%

Differentially expressed haptoglobin as a potential biomarker for type 2 diabetic mellitus in Hispanic population

Liu

et al. 2017

BioFactors

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Glycosylated hemoglobin (HbA1c) measurement is currently a primary tool for diagnosis of type 2 diabetes mellitus (T2DM), especially for the assessment of chronic hyperglycemia. However, many studies reported the limitation of using HbA1c for T2DM diagnosis/prognosis, such as poor sensitivities, difficult standardization, and variable cut points across ethnic groups. Therefore, the aim of this study was to discover novel biomarkers associated with elevated HbA1c levels as complementary T2DM diagnostic tools. Two-dimensional difference gel electrophoresis combined with mass spectrometry were applied for protein profile analyses of two pooled serum samples collected from Hispanic T2DM subjects (n = 74) with HbA1c ≥7 and HbA1c< 7, respectively. Isoforms of haptoglobin (Hp) α1/α2 chains were significantly altered in pooled serum samples from T2DM subjects with HbA1c ≥7 compared to those with HbA1c< 7. Hp genotypes of 262 Hispanic subjects, including 109 T2DM and 153 nondiabetic controls, were further determined by PCRs and western blotting analysis. Meanwhile, a new droplet digital PCR method for Hp genotyping was also established. The distribution of Hp2 allele was higher in T2DM subjects compared to nondiabetic controls and the HbA1c levels of T2DM subjects carrying at least one Hp2 allele tended to be higher than T2DM subjects with Hp 1-1. In summary, our results indicate that differentially expressed serum Hp protein isoforms could be associated with HbA1c levels and subjects with Hp2 allele have a higher risk for the occurrence of T2DM in Hispanic population. © 2016 BioFactors, 43(3):424-433, 2017.

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Haptoglobin genotyping of Vietnamese: Global distribution of HPdel, complete deletion allele of the HP gene

Cited by 13 publications

References 26 publications

Haptoglobin polymorphisms in Latin American populations

Haptoglobin polymorphisms in Latin American populations

Haptoglobin Gene Expression and Anthracycline-Related Cardiomyopathy in Childhood Cancer Survivors

Differentially expressed haptoglobin as a potential biomarker for type 2 diabetic mellitus in Hispanic population

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