Naslov
Population Genetics of the Human Angiotensin - 1 Converting Enzyme (ACE) Locus

Autori
Wolujewicz, Michael ; Kaushal, Ritesh ; Wang, Ning ; Barać, Lovorka ; Janićijević, Branka ; Martinović Klarić, Irena ; Peričić, Marijana ; Smolej-Narančić, Nina ; Rudan, Pavao ; Rudan, Igor ; McGarvey, Stephen T. ; Jin, Li ; Chakraborty, Ranajit ; Deka, Ranjan

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
13th Congress of the European Anthropological Association: Abstracts / Maver, Hubert ; Rudan , Pavao - Zagreb : Hrvatsko antropološko društvo, Collegium Antropologicum (vol. 26, Suppl.), 2002

Skup
13th Congress of the European Anthropological Association

Mjesto i datum
Zagreb, Hrvatska, 30.08.2002. - 03.09.2002

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Alu polymorphisms; ACE; human populations; chimpanzees

Sažetak
An Alu indel (I/D) polymorphism in intron 16 of the ACE gene, previously thought to be associated with plasma ACE activity, has been characterized in numerous human populations. We have typed this locus in 1288 individuals belonging to 26 worldwide populations and observed a distinct cline of the Alu*I allele increasing geographically from Africa (0.34), extending through Europe (0.40), South Asia (0.54) and East Asia (0.72), with the highest frequency in Oceania (0.85). We typed a sample (N = 39) of chimpanzees and surprisingly found to be polymorphic (*I = 0.18), contradicting the earlier assertion that the ACE-Alu indel locus is human specific. Sequencing confirms this polymorphism to predate human-chimpanzee split. To further characterize the population genetic properties of the ACE gene, we have analyzed three additional SNPs downstream to the Alu locus in Benin from Africa (N = 56), German (N = 59), Chinese (N = 62), chimps (N = 38), and two isolated island populations, viz., Adriatic Island Korculan (N = 79) and Samoan from Polynesia (N = 90). One of the SNPs, 22982, reported to be in strong linkage disequilibrium (LD) with ACE determining variants, is in complete LD (D&cent ; ; ; ; = 1) with the Alu indel site among the Samoan and the Korculan. The two sites are approximately 9 kb apart. The two other SNPs (17634 and 20120), located between the above two markers, are monomorphic in the examined populations excepting the Benin and the Samoan. At the four-locus haplotype level, diversity is the highest in Africa, intermediate in Europe and Asia and the lowest in Samoa and Korcula. These features together with the least number of observed haplotypes, the Samoans and the Korculans present the strongest evidence of an LD block, which has important implications for disease-gene association mapping in isolated human populations.

Izvorni jezik
Engleski

Znanstvena područja
Etnologija i antropologija

POVEZANOST RADA