Haplotype diversity in 11 candidate genes across four populations. 2005

T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland 21205, USA.

Analysis of haplotypes based on multiple single-nucleotide polymorphisms (SNP) is becoming common for both candidate gene and fine-mapping studies. Before embarking on studies of haplotypes from genetically distinct populations, however, it is important to consider variation both in linkage disequilibrium (LD) and in haplotype frequencies within and across populations, as both vary. Such diversity will influence the choice of "tagging" SNPs for candidate gene or whole-genome association studies because some markers will not be polymorphic in all samples and some haplotypes will be poorly represented or completely absent. Here we analyze 11 genes, originally chosen as candidate genes for oral clefts, where multiple markers were genotyped on individuals from four populations. Estimated haplotype frequencies, measures of pairwise LD, and genetic diversity were computed for 135 European-Americans, 57 Chinese-Singaporeans, 45 Malay-Singaporeans, and 46 Indian-Singaporeans. Patterns of pairwise LD were compared across these four populations and haplotype frequencies were used to assess genetic variation. Although these populations are fairly similar in allele frequencies and overall patterns of LD, both haplotype frequencies and genetic diversity varied significantly across populations. Such haplotype diversity has implications for designing studies of association involving samples from genetically distinct populations.

UI MeSH Term Description Entries
D007194 India A country in southern Asia, bordering the Arabian Sea and the Bay of Bengal, between Burma and Pakistan. The capitol is New Delhi. Republic of India
D008296 Malaysia A parliamentary democracy with a constitutional monarch in southeast Asia, consisting of 11 states (West Malaysia) on the Malay Peninsula and two states (East Malaysia) on the island of BORNEO. It is also called the Federation of Malaysia. Its capital is Kuala Lumpur. Before 1963 it was the Union of Malaya. It reorganized in 1948 as the Federation of Malaya, becoming independent from British Malaya in 1957 and becoming Malaysia in 1963 as a federation of Malaya, Sabah, Sarawak, and Singapore (which seceded in 1965). The form Malay- probably derives from the Tamil malay, mountain, with reference to its geography. (From Webster's New Geographical Dictionary, 1988, p715 & Room, Brewer's Dictionary of Names, 1992, p329) Federation of Malaya,Malay Federation,Malay Peninsula,Malaya,Malaya Federation,Sabah,Sarawak
D008297 Male Males
D008396 Maryland A state bounded on the north by Pennsylvania, on the east by Delaware and the Atlantic Ocean, on the south by Virginia and West Virginia, and on the west by West Virginia.
D002971 Cleft Lip Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
D002972 Cleft Palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
April 2004, American journal of human genetics,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
January 2018, PloS one,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
January 2008, Human heredity,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
January 2009, Human heredity,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
January 2013, PloS one,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
May 2016, TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
April 2005, Forensic science international,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
August 2007, BMC plant biology,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
January 2013, Animal biotechnology,
T H Beaty, and M D Fallin, and J B Hetmanski, and I McIntosh, and S S Chong, and R Ingersoll, and X Sheng, and R Chakraborty, and A F Scott
November 1997, Tissue antigens,
Copied contents to your clipboard!