This review provides an overview of the literature on aspects of reproductive endocrinology wherein Asian men may differ from Caucasian, notably, prostatic neoplasm and the sensivity to pharmacological regimens of male contraception. Both genetic and environmental factors, such as nutrition, might be relevant. Asian men residing in Asia seem to be relatively protected from clinical prostatic neoplasm while the prevalence of preclinical prostatic neoplasm is not different. Migration to an area with a higher prevalence reduces this difference but does not undo it. With regard to prostatic neoplasm the following factors have been considered as relevant in Asian men: 1) a reduction in 5 alpha-reductase level, 2) decreased levels of androgenic ketosteroid precursors of 5 alpha-reduced androgen metabolites, 3) the decreased presence of a P53 mutation, 4) a higher CAG-repeat length of the androgen receptor, 5) a possible higher level of physical activity, 6) differences in sexual activity. Furthermore, Asian men respond to a higher degree with azoospermia in response to contraceptive steroids. Possible explanations offered for the more pronounced response to contraceptive steroids are: 1) differences in testicular structure and decreased spermatogenic potential, 2) an earlier and more marked suppression in LH secretion by exogenous androgens. The differences may be due to genetical and/or environmental factors influencing the peripheral testosterone metabolism. Dietary factors such as the higher intake of phytoestrogens in Asians might exert effects on 5 alpha-reductase activity and/or on sex hormone binding globulin (SHBG) levels, thus having an impact on the biological efficacy of circulating androgens.
Asian Continental Ancestry Group ; Environment ; Ethnic Groups ; European Continental Ancestry Group ; Humans ; Male ; Reproduction ; genetics ; physiology

To investigate the distribution of variant genotypes of Fc gamma receptor IIIa (Fc gamma R IIIa) in healthy Chinese population of Zhengzhou city, genomic DNA was extracted from peripheral blood of healthy donators. The genotypes of Fc gamma R IIIa-158 were determined by nested polymerase chain reaction (PCR) in 137 healthy people in Zhengzhou city. The results showed that frequencies of variant genotypes FF, VV and VF were 42.3%, 48.9% and 8.8% respectively. The distribution of Fc gamma R IIIa-158 in healthy Chinese population of Zhengzhou city was polymorphic and different from that of African Americans (AA) and Caucasian Americans (CA).
Asian Continental Ancestry Group ; European Continental Ancestry Group ; Genotype ; Polymerase Chain Reaction ; *Polymorphism, Genetic ; Receptors, IgG/*genetics ; Variation (Genetics)

To investigate the distribution of variant genotypes of Fc gamma receptor IIIa (Fc gamma R IIIa) in healthy Chinese population of Zhengzhou city, genomic DNA was extracted from peripheral blood of healthy donators. The genotypes of Fc gamma R IIIa-158 were determined by nested polymerase chain reaction (PCR) in 137 healthy people in Zhengzhou city. The results showed that frequencies of variant genotypes FF, VV and VF were 42.3%, 48.9% and 8.8% respectively. The distribution of Fc gamma R IIIa-158 in healthy Chinese population of Zhengzhou city was polymorphic and different from that of African Americans (AA) and Caucasian Americans (CA).
Asian Continental Ancestry Group ; European Continental Ancestry Group ; Genetic Variation ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Receptors, IgG ; genetics

PURPOSE: UGT1A1, UGT2B7, and UGT2B15 are well-known pharmacogenes that belong to the uridine diphosphate glucuronyltransferase gene family. For personalized drug treatment, it is important to study differences in the frequency of core markers across various ethnic groups. Accordingly, we screened single nucleotide polymorphisms (SNPs) of these three genes and analyzed differences in their frequency among five ethnic groups, as well as attempted to predict the function of novel SNPs. MATERIALS AND METHODS: We directly sequenced 288 subjects consisting of 96 Korean, 48 Japanese, 48 Han Chinese, 48 African American, and 48 European American subjects. Subsequently, we analyzed genetic variability, linkage disequilibrium (LD) structures and ethnic differences for each gene. We also conducted in silico analysis to predict the function of novel SNPs. RESULTS: A total of 87 SNPs were detected, with seven pharmacogenetic core SNPs and 31 novel SNPs. We observed that the frequencies of UGT1A1 *6 (rs4148323), UGT1A1 *60 (rs4124874), UGT1A1 *93 (rs10929302), UGT2B7 *2 (rs7439366), a part of UGT2B7 *3 (rs12233719), and UGT2B15 *2 (rs1902023) were different between Asian and other ethnic groups. Additional in silico analysis results showed that two novel promoter SNPs of UGT1A1 -690G>A and -689A>C were found to potentially change transcription factor binding sites. Moreover, 673G>A (UGT2B7), 2552T>C, and 23269C>T (both SNPs from UGT2B15) changed amino acid properties, which could cause structural deformation. CONCLUSION: Findings from the present study would be valuable for further studies on pharmacogenetic studies of personalized medicine and drug response.
Asian Continental Ancestry Group/genetics ; European Continental Ancestry Group/genetics ; Female ; Gene Frequency/genetics ; Glucuronosyltransferase/*genetics ; Haplotypes/genetics ; Humans ; Linkage Disequilibrium/genetics ; Male ; Polymorphism, Single Nucleotide/*genetics

BACKGROUNDIgA nephropathy (IgAN) is the most common primary glomerular disease. Transforming growth factor β1 (TGFβ1) plays an important role in pathogenesis of IgAN. Associations between the polymorphisms of TGFβ1 gene and the risk of IgAN remained inconsistent. A meta-analysis was conducted to investigate the association between polymorphisms in the TGFβ1 gene and IgAN susceptibility.

METHODSDatabases including Pubmed, EMBASE, ISI, et al. were searched to find relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the strength of associations.

RESULTSTen studies involving 1770 cases and 1953 controls were included. Significant association between C509T polymorphism and IgAN risk was observed (OR 1.42, 95% CI 1.12-1.81, P = 0.0004; I(2) = 0%) in Caucasians by the overdominant model (CT vs. CC + TT), but no significant association was found (P = 0.200) in Asians by the dominant model (CC + CT vs. TT). Significant association between T869C polymorphism and IgAN susceptibility was found (OR 1.21, 95% CI 1.02-1.44, P = 0.030) in overall populations by the dominant model (TT + TC vs. CC). Subgroup analysis found T allele of T869C polymorphism was associated with IgAN susceptibility in Caucasians (P = 0.030), but not in Asians (P = 0.290).

CONCLUSIONBoth heterozygotes of C509T polymorphism and T allele of T869C polymorphism in TGFβ1 were associated with the risk of IgAN in Caucasians, but not in Asians.

Asian Continental Ancestry Group ; genetics ; European Continental Ancestry Group ; genetics ; Genetic Predisposition to Disease ; genetics ; Glomerulonephritis, IGA ; epidemiology ; genetics ; Humans ; Polymorphism, Genetic ; genetics ; Transforming Growth Factor beta1 ; genetics

BACKGROUNDAn amino acid polymorphism for Met to Val has been identified at PrP codon 129 from different human races. In this study,the characteristics of polymorphism of PRNP 129th amino acid in Han and Uighur Chinese have been investigated.

METHODSHuman DNAs were extracted from peripheral lymphocytes and PrP gene fragments were amplified with a specific PCR protocol. The distribution of 129th amino acid in PRNP was determined by a PCR-RFLP and the results were analyzed with software SAS for Windows 6.12.

RESULTSThe frequencies of the allele 129 Met and 129 Val were 97.0% and 3.0% in Han Chinese, whereas 91.4% and 8.6% in Uighur Chinese. The frequency of 129 M/M phenotypes in Han Chinese was significantly higher than that in Uighur Chinese (P=0.0490). Comparing the phenotype distributions of codon 129 of Han Chinese with that of Japanese and Caucasian, there was significant difference with Caucasian (P=0.0005),but there was no difference with Japanese (P=0.5040).

CONCLUSIONSThe polymorphism of 129th amino acid in PRNP of Han Chinese is similar to Japanese, but different from Uighur Chinese.

Asian Continental Ancestry Group ; genetics ; China ; Codon ; genetics ; European Continental Ancestry Group ; genetics ; Gene Frequency ; Genotype ; Humans ; Polymorphism, Genetic ; Prion Diseases ; genetics ; Prions ; genetics

OBJECTIVETo resolve the problem of the accuracy and standardization of short tandem repeat-polymerase chain reaction (STR-PCR) typing in forensic practice, the authors have designed a new method of producing standard D12S391 allelic ladder.

METHODSNine different PCR amplified D12S391 allelic fragments were isolated from the gel, eluted into the distilled water and re-amplified by PCR. The purified allelic fragments were then blunt-end subcloned individually into the pUC plasmid vectors and transfected into competent E.coli DH5 alpha(TM) cells. The sequencing results confirmed that the size and the structure of the inserts were correct. The recombinant plasmids DNA with 9 inserts were then used as templates for PCR re-amplification to generate D12S391 standard ladder.

RESULTSWith the ladder, the authors studied the genetic polymorphisms of D12S391 locus in six populations (German, Japanese and Chinese south-western Han, northern Han, Weiwu'er and Hui populations), and the respective primary data in the six populations were obtained. D12S391 locus showed high polymorphism in all six populations, and its exclusion power and discrimination power are 0.609-0.786 and 0.940-0.952 respectively.

CONCLUSIONThe results demonstrate that the standard ladder generated via this method is excellent, and D12S391 locus is robust for genetic research and forensic application.

Alleles ; Asian Continental Ancestry Group ; genetics ; China ; European Continental Ancestry Group ; genetics ; Forensic Medicine ; Genetics, Population ; Germany ; Humans ; Japan ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Tandem Repeat Sequences ; genetics

BACKGROUNDTransforming growth factor-beta 1 (TGF-β1) and gene variants have been extensively studied in various human diseases. For example, TGF-β1 polymorphisms were associated with fibrosis and pneumoconiosis, but the data remained controversial. The aim of this meta-analysis was to assess the association between TGF-β1 -509 C>T [rs1800469], +869 T>C [rs1800470], and +915 G>C [rs1800471] polymorphisms and pneumoconiosis.

METHODSA comprehensive literature search was conducted through searching in PubMed, Embase, the Chinese Biomedical Database, and the Wei Pu (Chinese) Database by the end of April 2016. Eleven publications with 21 studies were included in this meta-analysis, covering a total of 4333 patients with pneumoconiosis and 3478 controls. Study quality was assessed, and heterogeneity and publication bias were measured. All statistical analyses were performed using STATA version 12.0 (StataCorp, College Station, TX, USA) software.

RESULTSThe data showed significant associations between TGF-β1 -509 C>T polymorphism and the risk of pneumoconiosis development (T vs. C, odds ratio [OR] = 1.35, 95% confidence interval [CI]: 1.00-1.81, P = 0.046); between TGF-β1 +915 G>C polymorphism and the pneumoconiosis risk (C vs. G, OR = 1.69, 95% CI: 1.19-2.40, P = 0.004; CG vs. GG, OR = 1.79, 95% CI: 1.23-2.60, P = 0.002; CC+CG vs. GG, OR = 1.80, 95% CI: 1.24-2.61, P = 0.002). In addition, the subgroup analysis of ethnicity versus pneumoconiosis types indicated a significant association of silicosis among Asian populations but not that of coal workers' pneumoconiosis in Caucasian populations. In contrast, no significant association was exhibited between TGF-β1 +869 T>C polymorphism and risk of pneumoconiosis.

CONCLUSIONThe polymorphisms of both TGF-β1 -509 C>T and +915 G>C are associated with increased risk of pneumoconiosis.

Asian Continental Ancestry Group ; European Continental Ancestry Group ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Pneumoconiosis ; genetics ; Polymorphism, Genetic ; genetics ; Transforming Growth Factor beta1 ; genetics

Many studies have reported the relationship between CXCL12 G801A polymorphism and cancer risk, with conflicting results. In this study, we tried to clarify the possibility that this polymorphism may increase cancer risk by conducting an updated meta-analysis. PubMed and EMbase were searched for case-control studies regarding the association of the gene polymorphism and cancer risk. Data were extracted and odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to assess the strength of the association. Heterogeneity among articles and publication bias was also assessed. Significantly increased risk for cancer was found (A vs. G: OR=1.26, 95% CI=1.13-1.40, P<0.01; AA+AG vs. GG: OR=1.33, 95% CI=1.16-1.52, P<0.01). In subgroup analysis, statistically elevated cancer risk was found in both Asian and Caucasian populations (for Asian, AA+AG vs. GG: OR=1.74, 95% CI=1.22-2.47, P<0.01; for Caucasian, AA+AG vs. GG: OR=1.24, 95% CI=1.09-1.42, P<0.01). Our result indicated that CXCL12 G801A polymorphism is a risk factor for cancer. To validate the finding, further large-size case-control studies are warranted.
Asian Continental Ancestry Group ; genetics ; Chemokine CXCL12 ; genetics ; European Continental Ancestry Group ; genetics ; Genetic Predisposition to Disease ; Humans ; Neoplasms ; ethnology ; genetics ; pathology ; Odds Ratio ; Polymorphism, Single Nucleotide

The objective of the study was to research the distribution features of HLA-DRB1 alleles in Shandong Hans' population and explore the possibility of finding the cord blood donor of HLA-DR matched to perform the stem cell transplantation for more patients from larger region of China and even other areas in the world. The subjects of the study were drawn from 3 438 Shandong Hans donors in Shandong Umbilical Cord Blood Bank and were tested by PCR-SSP technique for HLA-DR low resolution typing. The result indicated that the most prevalent five alleles of HLA-DRB1 locus were DRB1 * 15 (0.1817), * 07 (0.1369), * 09 (0.1221), * 04 (0.1084) and * 12 (0.1038). The DR18 has the lowest gene frequency 0.0003, while DRB1 * 10, * 16 and * 01 showed lower gene frequencies (GF), which GF were 0.0151, 0.0262, and 0.0322 respectively. As compared the HLA-DRB1 GF of Shandong Hans with those of other Han Chinese and other ethnic populations, there were unique distributed features of DRB1 alleles among various races populations, and those among the studied population groups from various regions with the same race origin. The difference from various regions in the same race was less than that among different races. In conclusion, a patient of Han Chinese is easier to search a DR-matched cord blood donor in Shandong Umbilical Cord Blood Bank, especially from northern Hans. No DRB1 allele is unique to single racial group and majority of DRB1 low-resolution phenotypes are common to all studied groups. It is reasonable for some patients from other races including Caucasian and Japanese to receive a transplant of cord blood stem cell matched with HLA-DR in Shandong Umbilical Cord Blood Bank.
Asian Continental Ancestry Group ; genetics ; Blood Donors ; European Continental Ancestry Group ; genetics ; Fetal Blood ; immunology ; Gene Frequency ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans