Calcium homeostasis modulator 1 ( <i>CALHM1</i> ) polymorphisms in cattle

Yun, Chae-Hee; Jeong, Byung-Hoon

doi:10.1590/S0100-736X2017000600008

Brasil

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LIVESTOCK DISEASES • Pesq. Vet. Bras. 37 (6) • June 2017 • https://doi.org/10.1590/S0100-736X2017000600008 linkcopy

Calcium homeostasis modulator 1 ( CALHM1 ) polymorphisms in cattle

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ABSTRACT:

The calcium homeostasis modulator 1 gene (CALHM1), which is located on chromosome 10 in humans and on chromosome 26 in cattle, is a transmembrane glycoprotein that controls the cytosolic calcium concentrations. Altered calcium homeostasis has been associated with several neurodegenerative disorders, including Alzheimer’s disease (AD). In a recent study, single nucleotide polymorphisms (SNPs) of CALHM1 have been associated with sporadic Creutzfeldt-Jakob disease (CJD). The protein sequence of human CALHM1 shows 93% homology with bovine CALHM1. Although SNPs of human CALHM1 have been correlated with human prion disease, polymorphisms of the bovine CALHM1 gene have not been reported in cattle thus far. To investigate polymorphisms of the bovine CALHM1 gene in Korean native cattle, we analyzed the open reading frame (ORF) of this gene in 175 Hanwoo and 141 Holstein cattle. We observed five SNPs: c.219C>T (rs380966453), c.357C>T (rs385969338), and c.869A>G (rs516301908) within the ORF region of two exons; and c.552+92A>G (rs481706737) and c.553-3A>C (rs448524869) in the intron of bovine CALHM1. Among the three SNPs that are in the ORF region of bovine CALHM1, the genotype and allele frequencies of the c.869A>G (p.His290Arg) and c.219C>T (p.Asn73Asn) SNPs were significantly different between Hanwoo and Holstein cattle (P<0.0001). Haplotype analysis showed that haplotypes ht2, ht3 and ht5 were also significantly different in these two cattle breeds. This study provides the first genetic analysis of the bovine CALHM1 gene in cattle.

INDEX TERMS: CALHM1; calcium homeostasis; single nucleotide polymorphism; cattle; Hanwoo; neurodegenerative disorders.

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Colégio Brasileiro de Patologia Animal - CBPA Pesquisa Veterinária Brasileira, Caixa Postal 74.591, 23890-000 Rio de Janeiro, RJ, Brasil, Tel./Fax: (55 21) 2682-1081 - Rio de Janeiro - RJ - Brazil
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		Genotype frequency, n (%)			P value	Allele frequency, n (%)		P value	HWE
c.219C>T		C/C	C/T	T/T		C	T
	Holstein	51 (51.0)	36 (36.0)	13 (13.0)	<0.0001	138 (69.0)	62 (31.0)	<0.0001	0.173
	Hanwoo	175 (100)	0 (0)	0 (0)		350 (100)	0 (0)		1.0
c.357C>T		C/C	C/T	T/T		C	T
	Holstein	74 (74.0)	23 (23.0)	3 (3.0)	0.7283	171 (85.5)	29 (14.5)	0.8055	0.636
	Hanwoo	125 (71.4)	46 (26.3)	4 (2.3)		296 (84.6)	54 (15.4)		0.251
c.552+92A>G		A/A	A/G	G/G		A	G
	Holstein	53 (53.0)	37 (37.0)	10 (10.0)	0.0012	143 (71.5)	57 (28.5)	<0.0001	0.393
	Hanwoo	33 (41.3)	76 (31.4)	66 (27.3)		142 (40.6)	208 (59.4)		0.911
c.553-3C>A		C/C	C/A	A/A		C	A
	Holstein	141 (100)	0 (0)	0 (0)	0.0037	282 (100)	0 (0)	0.0039	1.0
	Hanwoo	145 (94.2)	9 (5.8)	0 (0)		299 (97.1)	9 (2.9)		0.876
c.869A>G		A/A	A/G	G/G		A	G
	Holstein	141 (100)	0 (0)	0 (0)	<0.0001	282 (100)	0 (0)	<0.0001	1.0
	Hanwoo	120 (77.9)	33 (21.4)	1 (0.7)		273 (88.6)	35 (11.4)		0.519

Haplotypes	c.219C>T	c.357C>T	c.552+92A>G	c.553-3A>C	c.869A>G	Frequency		P-value
Haplotypes	c.219C>T	c.357C>T	c.552+92A>G	c.553-3A>C	c.869A>G	Holstein	Hanwoo	P-value
ht1	C	C	A	C	A	0.4318 (76)	0.4000 (76)	-
ht2	C	C	G	C	A	0.1307 (23)	0.3105(59)	0.0012
ht3	T	C	A	C	A	0.3068 (54)	0 (0)	<0.0001
ht4	C	T	G	C	A	0.1193 (21)	0.1632 (31)	0.2307
ht5	C	C	G	C	G	0 (0)	0.0842 (16)	<0.0001
ht6	C	C	A	C	G	0 (0)	0.0263 (5)	0.0592
ht7	C	C	G	A	G	0 (0)	0.0158 (3)	0.2454
ht8	C	T	A	C	A	0.0114 (2)	0 (0)	0.4968