TNF-alpha promoter single nucleotide polymorphisms are markers of human ancestry.
We present a map of single nucleotide polymorphisms (SNPs) in the human tumor necrosis factor (TNF)-alpha promoter based upon exploratory sequencing of 333 human TNF-alpha gene promoters from individuals of distinct ancestral backgrounds. We detect 10 TNF-alpha promoter SNPs that occur with distinct frequencies in populations of different ancestry. Consistent with these findings, we show that two TNF-alpha SNPs, the -243 SNP and the -856 SNP, are the first SNP markers of a sub-Saharan African-derived extended haplotype and an Amerindian HLA haplotype, respectively. Comparisons of TNF-alpha promoter SNP allele frequencies can thus help elucidate variation of HLA haplotypes and their distribution among existing ethnic groups and shed light into the history of human populations.
Baena
A
A
Center for Blood Research, Harvard Medical School, Boston, MA 02115, USA.
Leung
J Y
JY
Sullivan
A D
AD
Landires
I
I
Vasquez-Luna
N
N
Quiñones-Berrocal
J
J
Fraser
P A
PA
Uko
G P
GP
Delgado
J C
JC
Clavijo
O P
OP
Thim
S
S
Meshnick
S R
SR
Nyirenda
T
T
Yunis
E J
EJ
Goldfeld
A E
AE
D019143:Evolution, Molecular; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
D005819:Genetic Markers; D014409:Tumor Necrosis Factor-alpha