Genetic contribution to motility disorders of the upper gastrointestinal tract

Table 1 Overview of genetic association studies in achalasia

Protein (gene)	Polymorphism	Finding	Ref.
PTPN22	C1858T	Risk factor	[28]
IL-10	GCC	Protective	[29]
IL-23R	G381A	Protective	[30]
iNOS	iNOS22*A/A	No association	[35]
eNOS	eNOS*4°4°	No association	[35]
iNOS	(CCTTT) n > 12	Risk factor	[36]
cKit	Rs6554199	Risk factor	[37]
VIPR type 1	Rs437876 and rs896	Risk factor	[38]

iNOS: Inducible nitric oxide synthase; IL: Interleukin; PTPN22: Polymorphism C1858T of phosphatase N22.

Table 2 Overview of genetic association studies in functional dyspepsia

Protein (gene)	Polymorphism	Finding	Ref.
TLR-2	(192-174)del	Protective for Helicobacter pylori-infected patients	[43]
SERT	SS variant	No association	[45]
5-HT1A	-Pro16Leu	No association	[46,47]
5-HT2A	-1438 G/A	No association	[46,47]
HTR3A	C178T	No association	[46,47]
GNB3	C825T	Risk factor	[48-50]
	CT and TT carriers
GNB3	C825T	Risk factor for PDS	[48-50]
	CC and TT carriers
GNB3	C825T	Risk factor	[48-50]
	CC carriers
GNB3	C825T	Risk factor for EPS	[50]
	TT carriers
Presynaptic inhibitoryα2A and α2C adrenoceptor	-1291 C>G (α2A) and -del 1322-325 (α2A)	No association	[46]
Fatty acid amide hydrolase	C385A	No association	[51]
TRPV1	G315C	Risk factor	[52]
Na (V) 1.8	SCN10A	Protective	[53]
	3218CC

PDS: Post discharge surveillance; EPS: Encapsulating peritoneal sclerosis; TLR: Toll-like receptor; TRPV: Transient receptor potential vanilloid.

Table 3 Overview of genetic association studies in post-infectious dyspepsia

Protein (gene)	Polymorphism	Finding	Ref.
MIF	-173C	Risk factor for EPS	[56]
IL17	-7488T	Risk factor for EPS	[56]
COX-1	T1676C	Risk factor for EPS	[57]
NPS-R	rs2609234, rs6972158, and rs1379928	No association	[58]

IL: Interleukin; COX-1: Cyclooxygenase-1; EPS: Encapsulating peritoneal sclerosis; MIF: Macrophage migration inhibitory factor.

Table 4 Overview of genetic association studies in hypertrophic pyloric stenosis

Protein (gene)	Chromosome	Finding	Ref.
NOS1	12q	Association	[62,63]
MYH11-GRIN2A	16p12-p13	Association	[65]
SLC7A5	16q24	Association	[66]
TRPC5 and TRPC6	11q14-q22 and Xq23	Association	[67-69]