Evidence map›Paper›PMID 16909398›Full record

ArticleAmerican journal of human genetics2006

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.

Uppala Radhakrishna, Uppala Ratnamala, Mathew Gaines, Soraya Beiraghi, David Hutchings, Jeffrey Golla, Syed A Husain, Prakash S Gambhir, Jayesh J Sheth, Frenny J Sheth and 9 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed.

  1. The impact of developmental genes in non-syndromic cleft lip and/or palateJournal of the Turkish German Gynecological Association · 2023
    Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Genetics of nonsyndromic orofacial clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2012
    Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Current concepts in genetics of nonsyndromic clefts.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Uppala RadhakrishnaGreen Cross Blood Bank and Genetic Research Centre, Paldi, India. uppala@medecine.unige.ch
Uppala Ratnamala
Mathew Gaines
Soraya Beiraghi
David Hutchings
Jeffrey Golla
Syed A Husain
Prakash S Gambhir
Jayesh J Sheth
Frenny J Sheth
Ghati K Chetan
Mohammed Naveed
Jitendra V Solanki
Uday C Patel
Dilipkumar C Master
Rafiq Memon
Gregory S Antonarakis
Stylianos E Antonarakis
Swapan K Nath

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL-P) is a common congenital anomaly with incidence ranging from 1 in 300 to 1 in 2,500 live births. We analyzed two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic CL-P, in which the anomaly segregates as an autosomal dominant trait. The phenotype was variable, ranging from unilateral to bilateral CL-P. A genomewide linkage scan that used approximately 10,000 SNPs was performed. Nonparametric linkage (NPL) analysis identified 11 genomic regions (NPL>3.5; P<.005) that could potentially harbor CL-P susceptibility variations. Among those, the most significant evidence was for chromosome 13q33.1-34 at marker rs1830756 (NPL=5.57; P=.00024). This was also supported by parametric linkage; MOD score (LOD scores maximized over genetic model parameters) analysis favored an autosomal dominant model. The maximum LOD score was 4.45, and heterogeneity LOD was 4.45 (alpha =100%). Haplotype analysis with informative crossovers enabled the mapping of the CL-P locus to a region of approximately 20.17 cM (7.42 Mb) between SNPs rs951095 and rs726455. Thus, we have identified a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families.

Indexed as

Genetic LinkageChromosomes, Human, Pair 13Cleft LipCleft PalateGenome, HumanHaplotypesHumansIndiaPedigreePhysical Chromosome Mapping

Identifiers

PMID16909398
PMCPMC1559556

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.