Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes

Table 3 Population genetic analyses of the A112G-SNP (rs1805127) encoding the Gly38Ser polymorphism of KCNE1

HapMap-sample	Genotype counts			Allele frequency		Test statistic
	AA	GA	GG
(number of individuals)	Homozygotes 38Ser	Heterozygotes Gly38Ser	Homozygotes 38Gly	A	G	Fis	p-value
Central Euro-peans (120)	O = 14 E = 18	O = 64 E = 57	O = 42 E = 46	0.383	0.617	-0.124	0.110
Han Chinese, Beijing (90)	O = 12 E = 14	O = 48 E = 43	O = 30 E = 32	0.400	0.600	-0.106	0.223
Japanese, Tokyo (88)	O = 8 E = 8	O = 36 E = 37	O = 44 E = 44	0.295	0.705	+0.023	0.660
Yoruba, Nigeria (120)	O = 0 E = 11	O = 72 E = 51	O = 48 E = 59	0.300	0.700	-0.425	0.003

Comparison of the observed (O) and expected (E) genotype counts reveals a general trend for less observed homozygotes and more observed heterozygotes than expected. In case of the Yoruban sample, the heterozygote excess is even significant (see fixation index, Fis, and probability for deviation from Hardy-Weinberg equilibrium, p-value).

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