Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

Malhotra, Seema; Preet, Kiran; Tomar, Arvind; Rawat, Shweta; Singh, Sayar; Singh, Inderjeet; Varte, L. Robert; Chatterjee, Tirthankar; Pal, M. S.; Sarkar, Soma

doi:10.1186/s40798-017-0085-0

Sports Medicine - Open

Table 5 Frequency distribution of the polymorphisms in the male Gorkha soldiers (Tibeto-Burman)

From: Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers

SNP	Variants		Overall	(1) Gurung	(2) Magar	(3) Rai	(4) Tamang	(5) Limbu	Comparison of groups	Genotypic^a frequency	Allele^b frequency
SNP	Variants		Frequency						Level of significance (p)
rs1799752	ACE I/D	Genotype
		II	0.427	0.465	0.349	0.466	0.509	0.430	1 vs 2	0.14	0.04
		ID	0.467	0.438	0.471	0.466	0.452	0.507	1 vs 3	0.81	0.37
		DD	0.104	0.095	0.178	0.066	0.037	0.061	1 vs 4	0.45	0.38
		Allele							1 vs 5	0.62	0.99
		I	0.671	0.684	0.585	0.700	0.735	0.684	2 vs 3	0.08	0.03
		D	0.338	0.315	0.414	0.300	0.264	0.315	4 vs 2	0.02	0.007
									2 vs 5	0.07	0.05
		HWE p	0.381	0.893	0.751	0.389	0.230	0.156	3 vs 4	0.75	0.55
									3 vs 5	0.90	0.79
									4 vs 5	0.63	0.38
rs1815739 C/T	ACTN3 Arg(R)577Ter(X)	Genotype
		RR	0.366	0.397	0.308	0.366	0.396	0.413	1 vs 2	0.33	0.13
		RX	0.478	0.465	0.487	0.466	0.471	0.492	1 vs 3	0.87	0.61
		XX	0.155	0.139	0.203	0.166	0.132	0.092	1 vs 4	0.99	0.97
		Allele							1 vs 5	0.71	0.58
		R	0.605	0.630	0.552	0.600	0.632	0.661	2 vs 3	0.69	0.39
		X	0.394	0.369	0.447	0.400	0.367	0.338	4 vs 2	0.38	0.16
									2 vs 5	0.10	0.04
		HWE p	0.970	0.99	0.882	0.829	0.917	0.423	3 vs 4	0.86	0.62
									3 vs 5	0.45	0.31
									4 vs 5	0.79	0.63
rs8111989 T/C	CKMM A/G NcoI	Genotype
		AA	0.655	0.630	0.634	0.833	0.603	0.600	1 vs 2	0.89	0.86
		AG	0.296	0.287	0.300	0.150	0.377	0.369	1 vs 3	0.02	0.003
		GG	0.048	0.082	0.065	0.016	0.018	0.030	1 vs 4	0.22	0.72
		Allele							1 vs 5	0.31	0.83
		A	0.803	0.773	0.784	0.908	0.792	0.784	2 vs 3	0.02	0.003
		G	0.196	0.226	0.215	0.091	0.207	0.215	4 vs 2	0.32	0.86
									2 vs 5	0.44	0.99
		HWE p	0.244	0.280	0.221	0.442	0.283	0.456	3 vs 4	0.02	0.01
									3 vs 5	0.01	0.007
									4 vs 5	0.91	0.88
rs1799983 G/T	eNOS Glu298Asp	Genotype
		GG	0.799	0.808	0.756	0.766	0.830	0.876	1 vs 2	0.59	0.30
		GT	0.184	0.178	0.211	0.216	0.169	0.123	1 vs 3	0.84	0.37
		TT	0.016	0.013	0.032	0.016	0.000	0.000	1 vs 4	0.68	0.63
		Allele							1 vs 5	0.41	0.21
		G	0.892	0.897	0.862	0.775	0.915	0.938	2 vs 3	0.82	0.98
		T	0.108	0.103	0.138	0.125	0.085	0.062	4 vs 2	0.31	0.16
									2 vs 5	0.09	0.02
		HWE p	0.387	0.770	0.211	0.941	0.499	0.597	3 vs 4	0.51	0.21
									3 vs 5	0.20	0.04
									4 vs 5	0.47	0.48

Significance is assumed when p ≤ 0.0025 after Bonferroni’s correction (alpha = 0.05/20, for four polymorphisms × five ethnic groups)
HWE Hardy -Weinberg Equilibrium
^aPearson values from chi-square test for genotypic frequency [http://www.physics.csbsju.edu/stats/contingency_NROW_NCOLUMN_form.html]
^b p values from Fisher’s exact test for allelic frequency [http://www.quantitativeskills.com/sisa/statistics/fisher.htm]

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