Research Article
Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders
Table 1
Allelic frequencies of the sequence variations identified in FTL, FTH, FTMT, CP, IRP2, HPX, and HAMP genes in PD patients and controls.
| | Gene | PD | CNT | DNA variation | Gene position | AF | AF | AF | | | PD | CNT | DB |
| | FTL | 252 | 180 | c+163T>C | ex. 2 | 19.05% (96/504) | 25% (90/360) | 52% (1) | | | | c+522C>T | ex. 4 | 0.20% (1/504) | none | | | | | c+398A>C (H133P) | ex. 4 | 0.20% (1/504) | none | | | | | c−129delC | IRE-L | 0.20% (1/504) | none | | | | | c−37T>C | UTR | 0.20% (1/504) | none | | | | | IVS2+50C>T | int. 2 | 0.40% (2/504) | none | | | | | IVS2+60T>G | int. 2 | 0.40% (2/504) | 0.56% (2/360) | | | | | IVS2+66G>C | int. 2 | 0.20% (1/504) | none | |
| | FTH | 252 | 180 | c+161A>G (K54R) | ex. 2 | none | 0.56% (2/360) | | | | | IVS2+29 ins GTCATAG2 | int.2 | 3.57% (18/504) | 4.44% (16/360) | | | | | IVS2+23 G>A | int.2 | 0.20% (1/504) | none | |
| | FTMT | 332 | 342 | c+134C>A (P45H) | ex.1. | 1.05% (7/664) | 2.49% (17/684) | | | | | c+273C>T (S91S) | ex.1 | 0.15% (1/664) | none | | | | | c+506A>T (N169I) | ex.1 | none | 0.15% (1/684) | | | | | c+554G>A (G185D) rs35482405 | ex.1 | 0.15% (1/664) | none | 1.5% (2) | | | | c+646G>C (V216L) | ex.1 | 0.15% (1/664) | 0.29% (2/684) | | | | | c+667G>T (A223S) | ex.1 | 0.15% (1/664) | 0.29% (2/684) | | | | | c+745C>T | UTR | 0.15% (1/664) | none | |
| | CP | 103 | none | c+484A>T (T162S) | ex. 3 | 0.49% (1/206) | | | | | | c+788A>G (N263S) | ex. 5 | 0.49% (1/206) | | | | | | c+1430C>T (P477L) rs35331711 | ex. 8 | 0.49% (1/206) | | 1.3% (2) | | | | c+1632A>T (D544E) rs701753 | ex. 9 | 4.85% (10/206) | | 7.5% (1) | | | | c+1652C>T (T551I)3 rs61733458 | ex. 9 | 4.37% (9/206) | | nd | | | | c+1950A>C (G650G) rs1053709 | ex. 11 | 3.88% (8/206) | | 5.1% (1) | | | | c+2446G>A (V816L) | ex. 14 | 0.49% (1/206) | | | | | | c+2522C>G (T841R)3 rs56033670 | ex. 14 | 0.97% (2/206) | | nd | | | | c+2571C>T (Y857Y) | ex. 15 | 0.49% (1/206) | | | | | | c+2793 A>G (L931L) rs34987997 | ex. 16 | 0.49% (1/206) | | 2.2% (3) | | | | c+2991T>C (H997H) rs34394958 | ex. 17 | 2.91% (6/206) | | 7.9% (3) | | | | IVS1+41G>A rs3736282 | int. 1 | 6.31% (13/206) | | 11.4% (3) | | | | IVS2+20C>T rs17847023 | int. 2 | 4.85% (10/206) | | 10.9% (3) | | | | IVS4−14C>T rs34067682 | int. 4 | 2.43% (5/206) | | 6.5% (3) | | | | IVS5−51A>G rs34003547 | int. 5 | 4.37% (9/206) | | 2.3% (3) | | | | IVS7−47G>A | int. 7 | 0.97% (2/206) | | | | | | IVS9−38T>C rs6799507 | int. 9 | 1.46 % (3/206) | | 0.8% (1) | | | | IVS10+62T>C rs35149808 | int. 10 | 0.49% (1/206) | | 0.0% (3) | | | | IVS10+113C>T rs35516209 | int. 10 | 4.37% (9/206) | | 4.5% (3) | | | | IVS14+17G>A rs35593818 | int. 14 | 3.88% (8/206) | | 6.2% (3) | | | | IVS12−15delG rs34861155 | int. 12 | 17.96% (37/206) | | 36.4% (3) | | | | IVS15−12T>C rs16861582 | int. 15 | 15.05% (31/206) | | 32.5% (1). 20.8% (4) | | | | IVS17−78T>C | int. 17 | 0.49% (1/206) | | | | | | c+3335C>T rs34228141 | UTR | 2.43% (5/206) | | |
| | IRP2 | 50 | none | c+2616C>T (A872A) rs13180 | ex. 21 | 21% (21/100) | | 35% (1) | | | | c−89C>T4 rs954144 | UTR | 28% (28/100) | | 44% (1) | | | | IVS4−56G>C | int. 4 | 2% (2/100) | | | | | | IVS5+22A>C rs2938672 | int. 5 | 1% (1/100) | | 0% (1) | | | | IVS5+73delC rs11372841 | int. 5 | 1% (1/100) | | nd | | | | IVS7+19A>G rs3817092 | int. 7 | 10% (10/100) | | 16.1% (1) | | | | IVS12+50G>A rs9788758 | int. 12 | 2% (2/100) | | nd |
| | HPX | 103 | 94 | c+1017C>T (S339S) | ex. 9 | None | 0.5% (1/188) | | | | | IVS1+24C>T rs35862450 | int. 1 | 13.1% (27/206) | 19.7% (37/188) | | | | | IVS1−32T>A | int. 1 | 1%(2/206) | None | 26.4% (5) | | | | IVS1−41C>T | int. 1 | None | 0.5% (1/188) | | | | | IVS8−26A>G | int. 8 | None | 0.5% (1/188) | |
| | HAMP | 50 | 50 | c−72C>T | | 1.0% (1/100) | None | | | | | c+55G>A (A19T) | ex 1 | 1.0% (1/100) | None | |
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Genomic DNA from PD patients and controls was PCR amplified and scanned by DHPLC. PD: Parkinson’s disease, CNT: controls, AF: allelic frequency, DB: database.
FTL: ferritin light chain (NM_000146.3), FTH: ferritin heavy chain (NM_002032.2), FTMT: mitochondrial ferritin (NM_026286.2), CP: ceruloplasmin (NM_000096.3), IRP2: iron regulatory protein 2 (NM_004136.2), HPX: hemopexin (NM_000613.2), HAMP: hepcidin (NM_021175.2), ex: exon, int: intron, (1) HapMap-CEU, (2) AGI ASP POPULATION, (3) JAR CEPH-PANEL, (4) AFD EUR PANEL, (5) pilot1.CEU.
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