Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study

BMC Medical Genetics

Table 3 Summary of all OXTR coding variants detected by resequencing in the present study

Position¹	Nucleotide variation²	Amino acid substitution	Domain location	dbSNP ID	Sequencing analysis³	Number of variant carriers⁴
						Mother		Infant
						Case	Control	Case	Control
8809843	+31C>T	A11T	END		Case–control (P2)	1 (D)	0	0	0
8809741	+133C>A	V45L	TMD 1		Case–control (P2)	0	2 (D)	0	0
8809552	+322G>C	P108A	ECL 1	rs202138705	Case–control (P2), MT	1 (F)	0	0	0
8809446	+428T>C	Q143R	ICL 2		MT
8809359	+515A>G	V172A	TMD 4	rs115324487	Case–control (P1 and P2), MT	7 (A, U)	0	5 (A, U)	0
8809267	+607A>G	W203R	ECL 2	rs200498154	Case–control (P1)	0	0	1 (U)	0
8809258	+616G>C	L206V⁵	TMD 5	rs150746704	Case–control (P1 and P2)	2 (U)	0	3 (A, U)	0
8809243	+631C>A	V211L	TMD 5		Case–control (P2)	1 (D)	1 (D)	0	0
8809222	+652C>T	A218T	TMD 5	rs4686302	All
8809184	+690G>A	N230N	ICL 3	rs237902	All
8809162	+712C>T	A238T	ICL 3	rs61740241	All
8809150	+724C>G	E242Q	ICL 3		MT
8809133	+741C>T	A247A	ICL 3		Case–control (P2)	2 (D)	1 (D)	0	0
8809119	+755C>G	G252A	ICL 3	rs151141371	Case–control (P2), MT	3 (D)	2 (D, F)	0	0
8809033	+841C>T	V281M	TMD 6	rs144814761	Case–control (P2)	1 (D)	0	0	0
8809024	+850A>G	F284L⁶	TMD 6	rs201783860	Case–control (P2)	1 (U)	0	0	0

¹Position (on chromosome 3) according to NCBI Build 37.3 GRCh37.p5 assembly.
²Nucleotide numbering: +1 is the A of the ATG translation initiation codon.
³Sequencing analysis in which the variant indicated was detected. See text for further details.
⁴Counts of common variant (A218T, N230N, and A238T) carriers are not shown. Counts from maternal triad analysis were not included: P108A, Q143R, V172A, E242Q, and G252A were identified each in one family. Letter in parentheses is a population code: A: Argentina, D: Denmark, F: Finland, and U: U.S.
⁵Always found together with V172A.
⁶Identified in a twin case and not considered for formal association analysis.
ECL: extracellular loop, END: extracellular N-terminal domain, ICL: intracellular loop, TMD: transmembrane domain, P1: phase 1, P2: phase 2, MT: maternal triad.

ISSN: 1471-2350