• Animal cells and systems
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• 제7권2호
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• pp.139-144
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• 2003

We analyzed seven Y chromosome binary markers (YAP, RPS4Y_711,\;M9,\;M175,\;LINE1,\;SRY_+465$ and 47z) in samples from a total of 254 males from Koreans and tow Mongolian ethnic groups (Buryat and Khalkh) to study the genetic relationship among these populations. We found eight distinct Y haplogroups constructed from the seven binary markers. Haplogroup DE-YAP was present at extremely low frequencies (∼2%) in the Korean and Mongolian populations. This result is consistent with earlier reports that showed the YAP+ chromosomes to be highly polymorphic only in populations from Japan and Tibet in east Asia. The observed high frequency of haplogroup $C-RPS4Y_711$ in the Mongolian populations (∼40%) is concordant with recent findings, showing that the $RPS4Y_711$-T chromosomes were distributed at high frequencies in Siberian and Mongolian populations compared with most other populations from east Asia. Thus, the relatively moderate frequency of haplogroup $C-RPS4Y_711$ in Korean (∼15%) can be seen as genetic evidence for probable interaction with Mongolian and/or Siberian populations. In contrast, the majority (∼75%) of modern Koreans studied here had high frequencies of Y chromosome lineages of haplogroup O-M175 and additional haplogroupts that define sublineage of O-M175, which are most likely related with modern populations in China. In conclusion, our data on the Y chromosome haplogroup distribution may provide evidence for interaction between Korean and Mongolian populations, but Korean tend to be much more related with those from southern-to-northern populations of China than to Mongolians in east Asia.

• 대한치과교정학회지
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• 제34권6호
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• pp.537-543
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• 2004

Microsatellite market는 유전연관분석을 위한 매우 유용한 유전표지이다. 그러나 대부분의 market들은 서양인의 정보를 이응하고 있으므로 다른 종족에서 사용할 때는 종족간에 존재할 수 있는 유전 변이의 현저한 차이를 검증해야 한다. 한국인과 일본인 집단에서 종족간 유전 변이를 조사하기 위하여, 각각 96명의 비 혈연관계의 한국인과 일본인 개체들에서 DNA를 채취하였다 그리고 microsatellite set(ABI PRISM Linkage Mapping Set- HDS, Applied Biosystems, Foster City, CA, USA)을 이용하여 1번 인간 염색체 전 부위에 걸쳐 51개의 microsatellite marker들을 배열하고 부착된 marker들의 위치를 분석하여 대립유전자 빈도와 이형질성을 결정하였다 그 결과, 한국인과 서양인 집단 사이에는 현저한 차이를 보였으나 한국인과 일본인 집단 사이에서는 매우 유사하였다. 본 연구의 결과는 유전 연관 연구에 앞서 일반적으로 상용되는 microsatellite marker에 관한 광범위한 검증을 반드시 시행하여야 한다는 것을 나타낸다. 또한 한국인과 일본인 집단 사이에서 유사하게 나타난 대립유전자 빈도와 이 형질성은 두 민족간의 동질성이 높다는 것을 의미하므로 두 민족을 대상으로 한 1번 인간염색체와 관련된 유전 질환의 유전 연관 연구를 시행할 때 동일한 microsatellite marker의 이용 가능성을 제시하였다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권19호
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• pp.8311-8317
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• 2014

Background: Evidence supporting an association between the 8q24 rs4242382-A polymorphism and prostate cancer (PCa) risk has been reported in North American and Europe populations, though data from Asian populations remain limited. We therefore investigated this association by clinical detection in China, and meta-analysis in Asian, Caucasian and African-American populations. Materials and Methods: Blood samples and clinical information were collected from ethnically Chinese men from Northern China with histologically-confirmed PCa (n=335) and from age-matched normal controls (n=347). The 8q24 (rs4242382) gene polymorphism was genotyped by polymerase chain reaction-high-resolution melting analysis. We initially analyzed the associations between the risk allele and PCa and clinical covariates. A meta-analysis was then performed using genotyping data from a total of 1,793 PCa cases and 1,864 controls from our study and previously published studies in American and European populations, to determine the association between PCa and risk genotype. Results: The incidence of the risk allele was higher in PCa cases than controls (0.222 vs 0.140, $P=7.3{\times}10^{-5}$), suggesting that the 8q24 rs4242382-A polymorphism was associated with PCa risk in Chinese men. The genotypes in subjects were in accordance with a dominant genetic model (ORadj=2.03, 95%CI: 1.42-2.91, $Padj=1.1{\times}10^{-4}$). Presence of the risk allele rs4242382-A at 8q24 was also associated with clinical covariates including age at diagnosis ${\geq}65$ years, prostate specific antigen >10 ng/ml, Gleason score <8, tumor stage and aggressive PCa, compared with the non-risk genotype ($P=4.6{\times}10^{-5}-3.0{\times}10^{-2}$). Meta-analysis confirmed the association between 8q24 rs4242382-A polymorphism and PCa risk (OR=1.62, 95%CI: 1.39-1.88, $P=1.0{\times}10^{-5}$) across Asian, Caucasian and African American populations. Conclusions: The replicated data suggest that the 8q24 rs4242382-A variation might be associated with increased PCa susceptibility in Asian, Caucasian and African American populations. These results imply that this polymorphism may be a useful risk biomarker for PCa in multi-ethnic populations.

• Asian Pacific Journal of Cancer Prevention
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• 제15권11호
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• pp.4513-4518
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• 2014

The prevalence of BRCA1 gene mutations in breast cancer differs between diverse ethnic groups. Relatively little information is known about patterns of BRCA1 mutations in early-onset breast cancer in women of Uighur or Han descent, the major ethnic populations of the Xinjiang region in China. The aim of this study was to identify BRCA1 mutations in Uighur and Han patients with early-onset (age <35 years), and sporadic breast cancer for genetic predisposition to breast cancer. For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation polymorphism approach, followed by direct DNA sequencing in 22 Uighur and 13 Han women with early-onset sporadic breast cancer, and 32 women with benign breast diseases. The prevalence of BRCA1 mutations in this population was 22.9% (8/35) among early-onset sporadic breast cancer cases. Of these, 31.8% (7/22) of Uighur patients and 7.69% (1/13) of Han patients were found to have BRCA1 mutations. In 7 Uighur patients with BRCA1 mutations, there were 11 unique sequence alterations in the BRCA1 gene, including 4 clearly disease-associated mutations on exon 11 and 3 variants of uncertain clinical significance on exon 11, meanwhile 4 neutral variants on intron 20 or 2. None of the 11 BRCA1 mutations identified have been previously reported in the Breast Cancer Information Core database. These findings reflect the prevalence of BRCA1 mutations in Uighur women with early-onset and sporadic breast cancer, which will allow for provision of appropriate genetic counseling and treatment for Uighur patients in the Xinjiang region.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.5625-5629
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• 2013

Occurrence of breast cancer is related to genetic as well as cultural, environmental and life-style factors. Variations in diversity of these factors among different ethnic groups and geographical areas emphasize the immense need for studies in all racial-ethnic populations. The incidence of breast cancer in Pakistan is highest in Asians after Jews in Israel and 2.5 times higher than that in neighboring countries like Iran and India, accounting for 34.6% of female cancers. The Pakistani population is deficient in information regarding breast cancer etiology and epidemiology, but efforts done so far had suggested consanguinity as a major risk factor for frequent mutations leading to breast cancer and has also shed light on genetic origins in different ethnic groups within Pakistan. World-wide research efforts on different ethnicities have enhanced our understanding of genetic predisposition to breast cancer but despite these discoveries, 75% of the familial risk of breast cancer remains unexplained, highlighting the fact that the majority of breast cancer susceptibility genes remain unidentified. For this purpose Pakistani population provides a strong genetic pool to elucidate the genetic etiology of breast cancer because of cousin marriages. In this review, we describe the known breast cancer predisposition factors found in the local Pakistani population and the epidemiological research work done to emphasize the importance of exploring factors/variants contributing to breast cance, in order to prevent, cure and decrease its incidence in our country.

• Journal of Community Nutrition
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• 제8권2호
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• pp.90-95
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• 2006

Asian Americans is a minority population contributing approximately 4% to the total population of the United States, however it is one of the fastest growing populations. Although Asian Americans as a group have socioeconomic profiles that are similar to white Americans, significant variations exists within and across Asian ethnic groups. The top ten leading causes of death for Asian Americans includes cancer, heart diseases, stroke, unintentional injuries, diabetes, influenza and pneumonia, chronic lower respiratory disease, suicide, nephritis, and septicemia. The prevalence of obesity is lower among Asian Americans, however this should be taken with considerations specific to Asians. High salt and low calcium consumption seem to be dietary risk factors for Asian Americans, although dietary patterns are changing with acculturation. Factors affecting dietary patterns are discussed in this paper. A proactive nutrition education approach for Asian Americans should be promoting maintaining 'healthy' aspects of ethnic diets and adopting 'healthy' American diets. Collaboration with nutrition educators in Asian countries would be helpful to overcome limited resources available for researching and developing nutrition education messages and materials for Asian Americans. (J Community Nutrition 8(2): 90-95, 2006)

• Animal cells and systems
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• 제3권4호
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• pp.393-397
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• 1999

Length variations in human mitochondrial DNA (mtDNA) offer useful markers in the study of female aspects of human population history. One such length variation is a 9-bp deletion in the small noncoding segment located between the COII and Iysine tRNA genes (COII/tRNA/$^{Lys}$ intergenic region) which usually contain two tandemly arranged copies of a 9-bp sequence (ccccctcta) in human mtDNA. The mtDNA 9-bp deletion and polymorphic variants of expanded 9-bp repeat motif in the intergenic COII/tRNA$^{Lys}$ region have been found at varying frequencies among different human ethnic groups. We have examined the length variation of the mtDNA COII/tRNA$^{Lys}$ intergenic region from a total of 813 individuals in east Asian populations. The occurrence of the 9-bp deletion was found to be relatively homogeneous in northeast Asian populations (Chinese, 14.2%; Japanese, 14.3%: Koreans, 15.5%), with the exception of Mongolians (5.1%). In contrast, Indonesians (25.0%) and Vietnamese (23.2%) of the southeast Asian populations appeared to have relatively high frequencies of the 9-bp deletion. We identified the existence of a new expanded 9-bp repeat motif which likely resulted from a slipped mispairing insertion of six more cytosines in the intergenic COII$^{Lys}$ region. It was present at low frequencies in the Korean (2/349) and Japanese populations (2/147). Based on the results of this study, the Korean population may reflect a close genetic affinity with the Japanese and Chinese populations than the others surveyed east Asian populations.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.6035-6040
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• 2013

Background: Cancer is a complex disease caused by multiple factors, both genetic and environmental. It is a major health concern worldwide, in the Middle East and in Jordan specifically and the fourth most common killer in the Middle East. Hypothesis: The relative genetic homogeneity of the Circassian and Chechan populations in Jordan results in incidences of cancer that differ from the general Jordanian population, who are mostly Arabs. Materials and Methods: National Cancer Registry data were obtained for the years 1996-2005 The Chechen and Circassian cancer cases were identified and cancer registry data were divided into three populations. Crude rates were calculated based on the number of cancer cases and estimated populations. Results: Breast cancer is the most common cancer type constituting about one third of female cancers in all three populations. Higher crude rates are observed in the Circassian and Chechen populations than in the Arab Jordanian population. The rate ratios (95%CI) in Circassians and Chechens with respect to the Arab Jordanian population are 2.1 (1.48, 2.72) and 1.81 (1.16, 2.85), respectively. Lung cancer is the most common cancer in male Arab Jordanians and Chechens with crude rates of 4.2 and 8.0 per 100,000 respectively. The male to female ratio in these two populations in respective order are 5:1 and 7:1. The lung cancer crude rate in Circassians is 6.5 per 100,000 with a male to female ratio of only 1.6:1. The colorectal cancer crude rates in Arab Jordanians and Chechens are similar at 6.2 and 6.0 per 100,000, respectively, while that in Circassians is twice as high. Conclusions: Considerable ethnic variation exists for cancer incidence rates in Jordan. The included inbred and selected populations offer an ideal situation for investigating genetic factors involved in various cancer types.

• Toxicological Research
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• 제32권3호
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• pp.195-205
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• 2016

This study was performed to select single nucleotide polymorphisms (SNPs) related to the body burden of heavy metals in Koreans, to provide Korean allele frequencies of selected SNPs, and to assess the difference in allele frequencies with other ethnicities. The candidate-gene approach method and genome-wide association screening were used to select SNPs related to the body burden of heavy metals. Genotyping analysis of the final 192 SNPs selected was performed on 1,483 subjects using the VeraCode Goldengate assay. Allele frequencies differences and genetic differentiations between the Korean population and Chinese (CHB), Japanese (JPT), Caucasian (CEU), and African (YIR) populations were tested by Fisher's exact test and fixation index ($F_{ST}$), respectively. The Korean population was genetically similar to the CHB and JPT populations ($F_{ST}$ < 0.05, for all SNPs in both populations). However, a significant difference in the allele frequencies between the Korean and CEU and YIR populations were observed in 99 SNPs (60.7%) and 120 SNPs (73.6%), respectively. Ten (6.1%) and 26 (16.0%) SNPs had genetic differentiation ($F_{ST}$ > 0.05) among the Korean-CEU and Korean-YIR comparisons, respectively. The SNP with the largest $F_{ST}$ value between the Korean and African populations was cystathionine-${\beta}$-synthase rs234709 ($F_{ST}$: KOR-YIR, 0.309; KOR-CEU, 0.064). Our study suggests that interethnic differences exist in SNPs associated with heavy metals of Koreans, and it should be considered in future studies that address ethnic differences in heavy-metal concentrations in the body and genetic susceptibility to the body burden of heavy metals.

• Asian Pacific Journal of Cancer Prevention
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• 제13권4호
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• pp.1711-1712
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• 2012

Variation in diet and the rates of colorectal cancers have confounded researchers in recent years. Comparisons of populations in different geographic locations and of different ethnic origins have shown considerable differences in disease frequency, location and relation to diet. This paper revisits an earlier comparison of Maori rates of disease and diet based on data from 20 years ago with surprising changes in disease rates today.