148) Conclusions : Our results further support the linkage results for the chromosome 6q region and reveal a novel candidate gene for CL±P. |
PMID:24066709 DOI:10.1597/13-023 |
2015 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association |
* Fine Mapping of 6q23.1 Identifies TULP4 as Contributing to Clefts. |
- Objective : The aim of this work was to fine-map the region 6q23.1, which obtained suggestive linkage signal (logarithm of the odds [LOD] score = 2.22 under a recessive model) to cleft lip with or without cleft palate (CL±P) in our previous genome-wide linkage scan to identify possible genetic variants that may contribute to CL±P. Design : We used densely spaced markers spanning the entire 6q23.1 region to test for association with CL±P in a family cohort sample. Setting : Clinical information and DNA samples were obtained from families in the Philippines at their homes or primary health care clinics. Participants : The study sample consisted of 477 subjects (224 females and 253 males), segregating isolated CL±P, from 72 living in the same area in the Philippines. Main Outcome Measure : Overtransmission of alleles to persons born with CL±P. Results : We found statistical evidence of association between a marker of TULP4 (rs651333) with CL±P (P = .00007). Conclusions : Our results further support the linkage results for the chromosome 6q region and reveal a novel candidate gene for CL±P. |
(1)22 therapeutic | (17)3 mutation | (33)2 approaches | (49)2 information |
(2)11 and | (18)3 paradigm | (34)2 autosomal | (50)2 inhibitors |
(3)8 mechanism | (19)3 role | (35)2 candidate | (51)2 learning |
(4)8 method | (20)3 strain | (36)2 cardiac | (52)2 modulators |
(5)7 approach | (21)3 target | (37)2 clinical | (53)2 object |
(6)7 mutations | (22)3 targeted | (38)2 compounds | (54)2 oral |
(7)6 therapies | (23)3 targets | (39)2 data | (55)2 polymer |
(8)5 technique | (24)3 treatment | (40)2 described | (56)2 potent |
(9)4 strategies | (25)3 type | (41)2 dual | (57)2 prognostic |
(10)4 strategy | (26)3 words | (42)2 electroporation | (58)2 putative |
(11)4 surgical | (27)2 *null* | (43)2 finding | (59)2 recombinants |
(12)3 antibacterial | (28)2 anti-tumor | (44)2 findings | (60)2 results |
(13)3 drug | (29)2 antibiotic | (45)2 form | (61)2 therapeutical |
(14)3 homozygous | (30)2 anticancer | (46)2 genetic | (62)2 titanium |
(15)3 insights | (31)2 application | (47)2 imaging | (63)2 treatments |
(16)3 mechanisms | (32)2 applications | (48)2 in |
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