Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites

被引:33
作者
Mattei, Josiemer [1 ,2 ]
Parnell, Laurence D. [1 ]
Lai, Chao-Qiang [1 ]
Garcia-Bailo, Bibiana [3 ]
Adiconis, Xian [4 ]
Shen, Jian [1 ]
Arnett, Donna [5 ]
Demissie, Serkalem [6 ]
Tucker, Katherine L. [1 ,2 ]
Ordovas, Jose M. [1 ,2 ]
机构
[1] Tufts Univ, Jean Mayer US Dept Agr, Human Nutr Res Ctr Aging, Boston, MA 02111 USA
[2] Tufts Univ, Friedman Sch Nutr Sci & Policy, Boston, MA 02111 USA
[3] Univ Toronto, Fac Med, Dept Nutr Sci, Toronto, ON, Canada
[4] Broad Inst, Genome Biol & Cell Circuits Program, Cambridge, MA USA
[5] Univ Alabama Birmingham, Dept Epidemiol, Birmingham, AL USA
[6] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA
来源
BMC GENETICS | 2009年 / 10卷
基金
美国国家卫生研究院;
关键词
CORONARY-ARTERY-DISEASE; LIPOPROTEIN-LIPASE GENE; PRO12ALA POLYMORPHISM; HEART-DISEASE; POSTPRANDIAL RESPONSE; TRIGLYCERIDE LEVELS; COMMON DISEASE; I POLYMORPHISM; DECREASED RISK; REDUCED RISK;
D O I
10.1186/1471-2156-10-45
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: Variations in gene allele frequencies can contribute to differences in the prevalence of some common complex diseases among populations. Natural selection modulates the balance in allele frequencies across populations. Population differentiation (F-ST) can evidence environmental selection pressures. Such genetic information is limited in Puerto Ricans, the second largest Hispanic ethnic group in the US, and a group with high prevalence of chronic disease. We determined allele frequencies and population differentiation for 101 single nucleotide polymorphisms (SNPs) in 30 genes involved in major metabolic and disease-relevant pathways in Puerto Ricans (n = 969, ages 45-75 years) and compared them to similarly aged non-Hispanic whites (NHW) (n = 597). Results: Minor allele frequency (MAF) distributions for 45.5% of the SNPs assessed in Puerto Ricans were significantly different from those of NHW. Puerto Ricans carried risk alleles in higher frequency and protective alleles in lower frequency than NHW. Patterns of population differentiation showed that Puerto Ricans had SNPs with exceptional FST values in intronic, non-synonymous and promoter regions. NHW had exceptional FST values in intronic and promoter region SNPs only. Conclusion: These observations may serve to explain and broaden studies on the impact of gene polymorphisms on chronic diseases affecting Puerto Ricans.
引用
收藏
页数:12
相关论文
共 80 条
[1]   Interrogating a high-density SNP map for signatures of natural selection [J].
Akey, JM ;
Zhang, G ;
Zhang, K ;
Jin, L ;
Shriver, MD .
GENOME RESEARCH, 2002, 12 (12) :1805-1814
[2]   The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes [J].
Altshuler, D ;
Hirschhorn, JN ;
Klannemark, M ;
Lindgren, CM ;
Vohl, MC ;
Nemesh, J ;
Lane, CR ;
Schaffner, SF ;
Bolk, S ;
Brewer, C ;
Tuomi, T ;
Gaudet, D ;
Hudson, TJ ;
Daly, M ;
Groop, L ;
Lander, ES .
NATURE GENETICS, 2000, 26 (01) :76-80
[3]  
*AM DIAB ASS, TOT PREV DIAB PRED
[4]   Deconstructing the relationship between genetics and race [J].
Bamshad, M ;
Wooding, S ;
Salisbury, BA ;
Stephens, JC .
NATURE REVIEWS GENETICS, 2004, 5 (08) :598-U2
[5]   Natural selection has driven population differentiation in modern humans [J].
Barreiro, Luis B. ;
Laval, Guillaume ;
Quach, Helene ;
Patin, Etienne ;
Quintana-Murci, Lluis .
NATURE GENETICS, 2008, 40 (03) :340-345
[6]  
Belle DJ, 2008, AM FAM PHYSICIAN, V77, P1553
[7]  
Berg K, 2005, AM J HUM GENET, V77, P519
[8]   Total and central obesity among elderly Hispanics and the association with type 2 diabetes [J].
Bermudez, OI ;
Tucker, KL .
OBESITY RESEARCH, 2001, 9 (08) :443-451
[9]   Relation between XbA1 apolipoprotein B gene polymorphism and cardiovascular risk in a type 2 diabetic cohort [J].
Bernard, S ;
Charrière, S ;
Charcosset, M ;
Berthezène, F ;
Moulin, P ;
Sassolas, A .
ATHEROSCLEROSIS, 2004, 175 (01) :177-181
[10]   Latino populations: A unique opportunity for the study of race, genetics, and social environment in epidemiological research [J].
Burchard, EG ;
Borrell, LN ;
Choudhry, S ;
Naqvi, M ;
Tsai, HJ ;
Rodriguez-Santana, JR ;
Chapela, R ;
Rogers, SD ;
Mei, R ;
Rodriguez-Cintron, W ;
Arena, JF ;
Kittles, R ;
Perez-Stable, EJ ;
Ziv, E ;
Risch, N .
AMERICAN JOURNAL OF PUBLIC HEALTH, 2005, 95 (12) :2161-2168