TRP Gene Polymorphism and Disease Risk

Chapter 4


TRP Gene Polymorphism and Disease Risk



Ina Kraus-Stojanowic1; Ralf Baron2; Ingolf Cascorbi1,*    1 Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Kiel, Germany
2 Division of Neurological Pain Research and Therapy, Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany
* Corresponding author: cascorbi@pharmakologie.uni-kiel.de



Abstract


Transient receptor potential (TRP) channels are a family of cation channels involved in many physiological processes and pathogenesis of various disorders. They are expressed in almost every tissue and cell type and fulfill different functions in signaling, sensory and pain perception, regulation of calcium, and magnesium homeostasis. As a consequence, polymorphisms in TRP genes may have functional consequences resulting in a variety of disturbances and illnesses, ranging from asthma, diabetes, migraine, pain perception, psychiatric disorders, and renal diseases to skeletal dysplasias.


This chapter will sum up to-date known genetic variants in TRP channels and functional consequences. Moreover, data from candidate gene-based case-control studies, family-based associations, and ­genome-wide association studies are presented. Results of these genetic associations may lead to a ­discussion of whether personalized medicine is reasonable on the basis of TRP channel SNPs.



Keywords


Channelopathy


Diabetes


Neuropathic pain


Psychiatric disorder


Skeletal dysplasia


Genetic association study


TRP Gene Polymorphism


The TRP genes are listed in alphabetical and numerical order: TRPA1, single member of the TRPA subfamily, the TRPC subfamily with TRPC1, C3-C7, the TRPM subfamily with TRPM1-8, TRPML subfamily with TRMPL1, and the TRPV subfamily with V1, V3-V6 (Table 4.1).



Table 4.1


Genetic Variances of TRP Channels Reportedly Associated with Various Diseases or Behaviors

























































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Gene Location Protein cDNA rs Association with Population (cases/controls) Literature
TRPA1 Exon p.Glu179Lys c.535G>A rs920829 Paradoxical heat sensation in neuropathic pain patients 371/253 controls, Caucasian [1]
Exon 22 p.Asn855Ser c.2564A>G
Familial episodic pain syndrome (FEPS) Family study, Antioquian [2]
Intron – c.2385+617G>A rs11988795 Pain tolerance to the cold stimuli 735 normal subjects [3]
29 SNPs


Not with cough in subjects with or without asthma 844/2046, European [4]
TRPC1 Exon p.Ser306 = c.918G>A rs7621642 Not with T2D 223/120, Chinese Han [5]
Exon p.Thr643 = c.1929G>A rs3821647 Not with T2D 223/120, Chinese Han [5]
Exon p.Arg687 = c.2061G>A rs1132030 Not with T2D 223/120, Chinese Han [5]
Intron 8 – c.1480−111G>A rs12634067 Not with infantile hypertrophic pyloric stenosis (IHPS) Family study, Caucasian [6]
Intron – c.1479+4558A>T rs2033912 Not with T2D 223/120, Chinese Han [5]
Intron – c.633−6323T>C rs7638459 Risk factor of T2D without diabetic nephropathy 223/120, Chinese Han [5]
Intron – c.172+2632A>C rs953239 Protective factor of getting diabetic nephropathy in T2D 223/120, Chinese Han [5]
7 SNPs


Not with diabetic nephropathy or end-stage renal disease 284/282, African American [7]
TRPC3 Exon 1 p.Ala26 = c.78C>G rs13121031 Not with episodic human cerebellar ataxias 98/96 [8]
Exon 1 p.Lys195 = c.585G>A rs61742537 Not with episodic human cerebellar ataxias 98/96 [8]
Exon 8 p.Arg733 = c.2199G>A rs11732666 Not with episodic human cerebellar ataxias 98/96 [8]
Exon 9 p.Ser757 = c.2271A>G
Not with episodic human cerebellar ataxias 98/96 [8]
Exon 10 p.Glu817 = c.2451A>G rs41278087 Not with episodic human cerebellar ataxias 98/96 [8]
Promoter – c.78C>G rs13121031 Idiopathic ataxia 79/79 [9]
Promoter – c.78C>G rs13121031 Not with cardiac hypertrophy 126/126 [9]
TRPC4 Intron 3 – c.898−3204G>A rs10507457 Photoparoxysmal response (PPR), idiopathic generalized epilepsies (IGEs) 273/599 [10]
Intron 3 – c.1235−3135C>T rs7329459 PPR/IGE 273/599 [10]
Intron 5 – c.1375−4324C>T rs10507456 PPR/IGE 273/599 [10]
Intron 5 – c.2079+4443T>C rs1535775 PPR/IGE 273/599 [10]
Intron 5 – c.*109G>A rs10161932 PPR/IGE 273/599 [10]
Intron 5 – c.1884+769T>G rs7338118 PPR/IGE 273/599 [10]
TRPC5 Intron – c.900+286C>T rs7050529 Cigarettes per day 1172/1157; 1145/1142, European [11]
Intron 2 – c.379−1950T>A rs5942757 Not with infantile hypertrophic pyloric stenosis (IHPS) Family study, Caucasian [6]
TRPC6 Exon p.Pro15Ser c.43C>T rs3802829 Focal segmental glomerulosclerosis (FSGS) Family study, Czech [12]
Exon p.Gly109Ser c.325G>A
FSGS Family study, Spanish [13]
Exon p.Pro112Gln c.335C>A rs121434390 FSGS Family study [14]
Exon p.Asn125Ser c.374A>G rs146776939 FSGS Family study, Spanish [13]
Exon p.Met132Thr c.495T>C
FSGS Family study [15]
Exon p.Asn143Ser c.428A>G rs121434391 FSGS Family study [16]
Exon p.Arg175Gln c.524G>A
FSGS Family study, Dutch [17]
Exon p.His218Leu c.653A>T
FSGS Family study, Italian [18]
Exon p.Ser270Thr c.808T>A rs121434392 FSGS Family study [16]
Exon p.Arg360His c.1079G>A
FSGS Family study [19]
Exon p.Leu395Ala

FSGS Family study, Turkish [20]
Exon p.Ala404Val c.1211C>T rs36111323 FSGS Family study [18]
Exon 4 p.Ala404Val c.1211C>T rs36111323 Infantile hypertrophic pyloric stenosis (IHPS) Family study, Caucasian [6]
Exon p.Leu780Pro c.2339T>C
FSGS Family study, Spanish [13]
Exon p.Glu889Lys c.2664C>A
FSGS Family study, Chinese [21]
Exon p.Arg895Cys c.2683C>T rs121434394 FSGS Family study [16]
Exon p.Arg895Leu c.2684G>T
FSGS Family study, Italian [18]

Exon p.Glu897Lys c.2689G>A rs121434395 FSGS Family study [16]
Intron 1 – c.170+430G>C rs11224883 Infantile hypertrophic pyloric stenosis (IHPS) Family study, Caucasian [6]
Intron 6 – c.1744+528G>A rs7127346 IHPS Family study, Caucasian [6]
Promoter – c.-914A>C rs3922961 IHPS Family study, Caucasian [6]
Promoter – c.-361A>T
Not with idiopathic pulmonary arterial hypertension (IPAH) 268/237, white [22]
Promoter – c.-254C>G rs3824934 IPAH 268/237, white [22]
Promoter – c.-254C>G rs3824934 Steroid-resistant nephritic syndrome (SNRS) 28/23 [23]
Promoter – c.-218C>T
Not IPAH 268/237, white [22]
5ʹ – c.-1768G>A rs3824935 Not with membranous glomerulonephritis (MGN) 134/265 [24]
Intron – c.170+70G>A rs17096918 MGN 134/265 [24]
Intron – c.170+4707C>T rs4326755 MGN 134/265 [24]
TRPC7 Intron – c.780+2860G>A rs2673931 Nicotine dependence 1050/879 [25]
TRPM1 Exon p.Tyr56Cys c.167A>G
Complete congenital stationary night blindness (cCSNB) Family study [26]
Exon p.Tyr72Cys c.215A>G
cCSNB Family study [27]
Exon p.Arg74Cys c.220C>T
cCSNB Family study [26,28]
Exon p.Leu99Pro c.296T>C rs191205969 cCSNB Family study [27,28]
Exon p.Leu364Arg c.1091T>G
cCSNB Family study [28]
Exon p.Arg473Pro c.1418G>C
cCSNB Family study [27]
Exon p.Gly534Arg c.1600G>A
cCSNB Family study [28]
Exon p.Met541Lys c.1622T>A
cCSNB Family study [27]

Exon p.Val605Met c.1813G>A rs17815774 Effects of risperidone on DSM-IV schizophrenia 783 cases [29]
Exon p.Pro611His c.1832C>A
cCSNB Family study [28]
Exon p.Arg624Cys c.1870C>T
cCSNB Family study [30]
Exon p.Arg721Gln c.2162G>A
cCSNB Family study [26]
Exon p.Ser882Ter c.2645C>A
cCSNB Family study [30]
Exon p.Glu883Gly c.2648A>G
cCSNB Family study [26]
Exon p.Met962Thr c.2885A>C
cCSNB Family study [26]
Exon p.Ile1002Phe c.3004A>T
cCSNB Family study [26]
Exon p.Phe1075Ser c.3224T>C
cCSNB Family study [30]
Exon p.Arg1438Gly c.4312A>G
cCSNB Family study [26]
Promoter – c.-306G>A rs11070811 Triglyceride levels Family study, Mexican Americans [31]
18 SNPs


Not with albuminuria (albumin-to-creatinine ratio, ACR) Family study, Mexican Americans [31]
TRPM2 Exon 11 p.Asp543Glu c.1629T>G rs1556314 Bipolar disorder 600/450 [32]
Exon 11 p.Asp543Glu c.1629T>G rs1556314 Bipolar disorder type I (BD-I) but not BD-II family study, Caucasian [33]
Exon p.Pro1018Leu c.3053C>T rs145947009 Guamanian amyotrophic lateral sclerosis (ALS-G) and parkinsonism-dementia (PD-G) Family study, Guamanian [34]
Intron 18 – c.2791−15C>A rs1618355 Bipolar disorder 67/20 [35]
Intron 18 – c.2791−15C>A rs1618355 Early age at onset in BD-I families (C-T-A haplotype) Family study, Caucasian [33]

Intron 19 – c.2963−789C>T rs1612472 Intracellular Ca2 + in B lymphoblasts 67/20 [35]
Intron 20 – c.3147−1805C>T rs933151 Early age at onset in BD-I families (C-T-A haplotype) Family study, Caucasian [33]
Intron 27 – c.3975−207G>A rs749909 Early age at onset in BD-I families (C-T-A haplotype) Family study, Caucasian [33]
Intron – c.254+3675T>A rs2838553 Beta-cell function (HOMA-%B) 467/455, white [36]
Intron – c.423+467G>C rs2838554 HOMA-%B 467/455, white [36]
Intron – c.1215+200T>C rs4818917 HOMA-%B 467/455, white [36]
14 SNPs


Not with bipolar affective disorder (BPAD) Family study [37]
TRPM3 Intron – c.177+62935A>G rs688933 MeanHDL-C 1087 normal subjects [38]
Intron – c.177+29143C>T rs541326 MeanHDL-C 1087 normal subjects [38]
TRPM4 Exon p.Glu7Lys c.19G>A rs267607142 Progressive familial heart block type 1 (PFHB1B) Family study [39]
Exon p.Gln131His c.393G>C rs172146854 PFHB1B 160 cardiac patients [40]
Exon p.Arg164Trp c.490C>T rs387907216 PFHB1B Family study, Libanese, and French [41]
Exon p.Gln293Arg c.878A>G rs172147855 PFHB1B 160 cardiac patients [40]
Exon p.Ala432Thr c.1294G>A rs201907325 PFHB1B Family study, Libanese, and French [41]
Exon p.Gly582Ser c.1744G>A rs172149856 PFHB1B 160 cardiac patients [40]
Exon p.Tyr790His c.2368T>C rs172150857 PFHB1B 160 cardiac patients [40]

Exon p.Gly844Asp c.2531G>A rs200038418 PFHB1B Family study, Libanese, and French [41]
Exon p.Lys914Arg c.2741A>G rs172151858 PFHB1B 160 cardiac patients [40]
Exon p.Pro970Ser c.2908C>T rs172152859 PFHB1B 160 cardiac patients [40]
TRPM5 Exon p.Asn235Ser c.704A>G rs886277 Risk of hepatitis B virus-related liver cirrhosis 429/285, Chinese [42]
Exon 9 p.Ala456Thr c.1366G>A rs34551253 Primary open-angle glaucoma (POAG) 179/182, Turkish [43]
TRPM6 Exon p.Ser141Leu c.422C>T rs121912625 Hypomagnesemia with secondary hypocalcemia (HSH or HOMG1) Family study [44]
Exon p.Glu157Stop

HSH Family study [45]
Exon 5 p.Ile174Arg c.521T>G
HSH Family study [46]
Exon 9 p.Thr354Pro c.1060A>C
HSH Family study [46]
Exon 26 p.Val1393Ile c.1177G>A rs3750425 T2D (women with 1393Ile-1584Glu and low magnesium intake) 359/359 [47]
Exon 12 p.Tyr479Stop c.1437C>A
HSH Family study [46]
Exon 17 p.Cys707Tyr c.2120G>A
HSH Family study [46]
Exon p.Pro1017Arg c.3050C>G
HSH Family study [48]
Exon
c.4577G>A
HSH Family study [49]
Exon 27 p.Lys1584Glu c.4750A>G rs2274924 T2D (women with 1393Ile-1584Glu and low magnesium intake) 359/359 [47]

Exon 27 p.Lys1584Glu c.4750A>G rs2274924 Not with extracellular magnesium concentration 471 normal subjects, Caucasian [50]
Exon 27 p.Lys1584Glu c.4750A>G rs2274924 Glucose 52,684 normal subjects, European [51]
Intron – c.33+2944A>G rs11144134 Hypomagnesia and bone mineral density 15,366 normal subjects, European [52]
29 SNPs


Not with intermediate phenotypes or T2DM 467/455, white [53]
TRPM7 Exon p.Thr1482Ile c.4445C>T rs8042919 Guamanian amyotrophic lateral sclerosis (ALS-G) and parkinsonism-dementia (PD-G) Family study, Guamanian [54]
Exon p.Thr1482Ile c.4445C>T rs8042919 Not with ALS/PDC in Kii peninsula 24/27 [55]
Exon p.Thr1482Ile c.4445C>T rs8042919 Adenoma and hyperplastic polyps 688+210/1306 [56]
16 SNPs


Not with risk of incident ischemic stroke 245/245, white [57]
11 SNPs


Not with intermediate phenotypes or T2DM 467/455, white [53]
5 SNPs


Not with diabetes risk 359/359 [47]
TRPM8 Exon p.Pro249 = c.747A>T rs28901637 HDL cholesterol 133 normal subjects, Shorian [58]
Exon p.Leu250 = c.750G>C rs11562975 Total cholesterol, LDL cholesterol, hip and waist circumference 133 normal subjects, Shorian [58]
Intron – c.-6+1918C>T rs17862920 Migraine 2731/10,747 [59]
5ʹ – c.-990T>C rs10166942 Migraine compared with nonmigraine headache 5122/18,108, European [60]
12 SNPs


Not with heat or cold pain 735 normal subjects [3]
6 SNPs


Not with sensory parameters in neuropathic pain patients 371/253, Caucasian [1]
TRPML1 Exon p.Gln79Stop c.235C>T
Mucolipidosis Type lV (MLIV) Family study [61]
Exon p.Arg102Ter c.304C>T rs121908373 MLIV Family study [62]
Exon p.Leu106Pro c.442T>C
MLIV Family study [63]
Exon p.Arg172Stop c.639C>T
MLIV Family study [62]
Exon p.Thr232Pro c.694A>C
MLIV Family study [64]
Exon p.Arg322Stop c.964C>T
MLIV Family study [64]
Exon p.Asp362Tyr c.1084G>T rs121908372 MLIV Family study [62,63]
Exon p.Arg403Cys c.1207C>T
MLIV Family study [61,65]
Exon deltaPhe408 c.346−1348delCTT
MLIV Family study [62–64]
Exon p.Tyr436Cys c.1307A>G
MLIV Family study [66]
Exon p.Val446Leu c.1461G>T
MLIV Family study [62]
Exon p.Val446Ile c.1336G>A
MLIV Family study [62]
Exon p.Leu447Pro c.1465T>C
MLIV Family study [63]
Exon p.Ser456Leu c.1364C>T
MLIV Family study [67]
Exon p.Phe465Leu c.1395C>G
MLIV Family study [64]
TRPV1 Exon p.Lys2Asn c.6G>T rs9894618 Not with irritable bowel syndrome (IBS) 103/80, Korean [68]
Exon p.Pro91Ser c.271C>T rs222749 Not with chronic pancreatitis 228/207, Dutch [69]
Exon p.Pro91Ser c.271C>T rs222749 Not with IBS 103/80, Korean [68]
Exon p.His167 = c.501C>T rs222748 Not with nonspecific chronic cough in children 195/205, Chinese [70]
Exon p.Met315Ile c.945G>C rs222747 Not with heat or cold pain 735 normal subjects [3]
Exon p.Met315Ile c.945G>C rs222747 Not with chronic pancreatitis 228/207, Dutch [69]

Exon p.Met315Ile c.945G>C rs222747 Functional dyspepsia 109/98, Japanese [71]
Exon p.Met315Ile c.945G>C rs222747 Cold hypaesthesia in neuropathic pain patients 371/253, German [1]
Exon p.Met315Ile c.945G>C rs222747 Not with IBS 103/80, Korean [68]
Exon p.Met315Ile c.945G>C rs222747 Type 1 diabetes 146/205, Ashkenazi Jewish [72]
Exon p.Thr469Ile c.1406C>T rs224534 Not with chronic pancreatitis 228/207, Dutch [69]
Exon p.Ile585Val c.1753A>G rs8065080 Longer cold withdrawal times 500 normal subjects [73]
Exon p.Ile585Val c.1753A>G rs8065080 Not with heat or cold pain 735 normal subjects [3]
Exon p.Ile585Val c.1753A>G rs8065080 Change in abdominal adiposity 80 normal subjects [74]
Exon p.Ile585Val c.1753A>G rs8065080 Not with chronic pancreatitis 228/207, Dutch [69]
Exon p.Ile585Val c.1753A>G rs8065080 Lowered risk of current wheezing (active asthma) or cough 301/470, Spanish [75]
Exon p.Ile585Val c.1753A>G rs8065080 Cold hypoalgesia, less hyperalgesia 371/253, German [1]
Exon p.Ile585Val c.1753A>G rs8065080 Not with nonspecific chronic cough in children 195/205, Chinese [70]
Exon p.Ile585Val c.1753A>G rs8065080 Sensitivity of salt solutions 95 normal subjects [76]
Exon p.Lys719 = c.2157G>A rs877610 Primary progressive disease in multiple sclerosis (MS) 163 cases [77]
Intron – c.-34+2841C>T rs222741 Migraine 1040/1037 [78]
Intron – c.2347+873A>C rs11655540 Cough symptoms in subjects without asthma 844/2046, European [4]
Intron – c.1547+274A>G rs161365 Cough symptoms in subjects without asthma 844/2046, European [4]
Intron – c.1384−418C>T rs17706630 Cough symptoms in subjects without asthma 844/2046, European [4]

5ʹ-UTR – c.-332A>G rs2277675 Cough symptoms in subjects without asthma 844/2046, European [4]
5ʹ – T>G rs150854 Cough symptoms in subjects without asthma 844/2046, European [4]
5ʹ – T>G rs224498 Cough symptoms in subjects without asthma 844/2046, European [4]
5ʹ – c.-1900A>G rs4790520 Cigarettes per day 1172/1157; 1145/1142, European [11]
3ʹ-UTR – c.*343A>G rs4790521 Childhood asthma 177/151, Chinese [79]
3ʹ-UTR – c.*256T>G rs4790522 Childhood asthma 177/151, Chinese [79]
TRPV3 Exon p.Gly573Cys c.1717G>T rs199473704 Olmsted syndrome (OLMS) Family study [80]
Exon p.Gly573Ser c.1717G>A rs199473704 OLMS Family study [80]
Exon p.Trp692Gly c.2074T>G rs199473705 OLMS Family study [80]
Intron – c.2085+395T>C rs7217270 Migraine with aura 1040/1037 [78]
TRPV4 Exon 2 p.Pro19Ser c.55C>T rs3742030 Lower sodium concentrations in serum (hyponatremia) 1591 normal subjects [81]
Exon 2 p.Pro19Ser c.55C>T rs3742030 Not with childhood asthma or the presence of wheezing 301/470, Spanish [75]
Exon 2 p.Pro19Ser c.55C>T rs3742030 Chronic obstructive pulmonary disease (COPD) 606/1285, Caucasian;
953/956, Norwegian		 [82]
Exon p.Pro97Arg c.290C>G
Congenital distal spinal muscular atrophy (CDSMA) Family study [83]
Exon p.Glu183Lys c.547G>A rs387906324 Spondyloepiphyseal dysplasia Maroteaux type Family study [84]
Exon p.Leu199Phe

Metatropic dysplasia (MTD) Family study [85]

Exon p.Arg232Cys c.694C>T rs387906904 CDSMA and Charcot-Marie- Tooth disease (CMT2C) Family study [83,86]
Exon p.Arg269Cys c.805C>T
CMT2C Family study [86,87]
Exon p.Arg269His c.806G>A
CDSMA and CMT2C Family study [86–89]
Exon p.Gly270Val c.809G>T
Familial digital arthropathy brachydactyly (FDAB) Family study [90]
Exon p.Arg271Pro c.812G>C
FDAB Family study [90]
Exon p.Phe273Leu c.819C>G
FDAB Family study [90]
Exon p.Glu278Lys c.832G>A
Spondylometaphyseal dysplasia, Kozlowski type (SMDK) Family study [85]
Exon p.Thr295Ala c.883A>G
MTD Family study [85]
Exon p.Arg315Trp c.943C>T
CMT2C Family study [89,91]
Exon p.Arg316Cys c.946C>T rs267607145 CMT2C and scapuloperoneal spinal muscular atrophy (SPSMA) Family study [88,89]
Exon p.Arg316His c.947G>A rs387906905 CMT2C Family study [86]
Exon p.Ile331Phe c.991A>T rs121912636 MTD Family study [92,93]
Exon p.Ile331Thr c.992T>C
MTD Family study [85]
Exon p.Asp333Gly c.998A>G rs121912634 SMDK Family study [93]
Exon p.Val342Phe

MTD Family study [85]
Exon p.Ser542Tyr c.1625C>A rs387906902 CMT2C Family study [91]
Exon p.Phe592Leu

MTD Family study [85]
Exon p.Arg594His c.1781G>A
SMDK and parastremmatic dwarfism (PSTD) Family study [84,85,93]
Exon p.Leu596Pro c.1787T>C
SMDK Family study [85]
Exon p.Gly600Trp c.1798G>T
SMDK Family study [85]
Exon p.Tyr602Cys c.1805A>G rs267607150 Spondyloepiphyseal dysplasia Maroteaux type Family study [84]

Exon p.Arg616Gln c.1847G>A
Brachyolmia type 3 (BRAC3) Family study [94]
Exon p.Phe617Leu c.1851C>A
MTD Family study [92]
Exon p.Leu618Pro c.1853T>C
MTD Family study [92]
Exon p.Val620Ile c.1858G>A
BRAC3 Family study [94]
Exon p.Met625Ile

SMDK Family study [85]
Exon p.Leu709Met c.2125C>A
SMDK Family study [85]
Exon p.Ala716Ser c.2146G>T
SMDK Family study [93]
Exon p.Arg775Lys c.2324G>A
MTD Family study [85]
Exon p.Cys777Tyr c.2330G>A
SMDK Family study [85]
Exon p.Glu797Lys c.2389G>A rs267607149 MTD, SMDK, and spondyloepiphyseal dysplasia Maroteaux type Family study [84,85,92]
Exon p.Pro799Ala c.2395C>G rs267607147 MTD Family study [85]
Exon p.Pro799Leu c.2396C>T rs121912637 MTD and spondyloepiphyseal dysplasia Maroteaux type Family study [84,85,92,93]
Exon p.Pro799Arg c.2396C>G rs121912637 MTD Family study [85]
Exon p.Pro799Ser c.2395C>T rs267607147 MTD Family study [85]


G>A rs6606743 Chronic obstructive pulmonary disease (COPD) 606/1285, Caucasian;
953/956, Norwegian		 [82]
Intron 1 – c.-31−8070G>C rs7971845 COPD 606/1285, Caucasian;
953/956, Norwegian		 [82]

Intron 5 – c.853+158T>C rs16940583 COPD 606/1285, Caucasian;
953/956, Norwegian		 [82]
Intron 6 – c.1152+787T>C rs12579553 COPD 606/1285, Caucasian;
953/956, Norwegian		 [82]
Intron 6 – c.1153−189G>A rs3825396 COPD 606/1285, Caucasian;
953/956, Norwegian		 [82]
Intron7 – c.1332+830G>A rs12578401 COPD 606/1285, Caucasian;
953/956, Norwegian		 [82]
10 SNPs


Not with cough in subjects with or without asthma 844/2046, European [4]
TRPV5 8 SNPs


Not with renal hypercalciuria 20 cases [95]
TRPV6 Exon p.Cys157Arg c.469T>C rs4987657 Calcium stone formation, haplotype (157R+378V+681T) 274/341, no African [96]
Exon p.Met378Val c.1132A>G rs4987667 Calcium stone formation, haplotype (157R+378V+681T) 274/341, no African [96]
Exon p.Met681Thr c.2042T>C rs4987682 Calcium stone formation, haplotype (157R+378V+681T) 274/341, no African [96]
3 SNPs


Not with prostate cancer, haplotype (157R+378V+681T) 141 cases [97]

Related posts:

  1. The Role of TRPV1 in Acquired Diseases: Therapeutic Potential of TRPV1 Modulators
  2. Conclusions
  3. TRPML1-Dependent Processes as Therapeutic Targets
  4. Potential Therapeutic Applications for TRPV4 Antagonists in Lung Disease

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Nov 18, 2017 | Posted by in PHARMACY | Comments Off on TRP Gene Polymorphism and Disease Risk

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