# ILLUMINA GLOBAL DIVERSITY ARRAY (SHAFFER&MARAZITA) NIDCR FY 2020 CAN 8469539: Genetics of Orofacial Clefts, Sub-types, and Subclinical Phenotypes

> **NIH NIH N01** · JOHNS HOPKINS UNIVERSITY · 2020 · $546,000

## Abstract

Non-syndromic orofacial clefts are one of the most common birth defects worldwide. Genetic variation is thought to play a major role in risk of non-syndromic clefts; indeed, several genetic risk loci have been identified, to date. However, these loci cumulatively explain only part of the heritability, and for most of these loci, the specific causal variants have not yet been determined. Moreover, recent work has suggested that subclinical cleft-related phenotypes may comprise part of the cleft phenotypic spectrum, and may serve as indicators of the underlying cleft liability. The genetics of such cleft-related phenotypes is not well understood. This proposal will seek to fill the gap in knowledge regarding the genetic variants leading to overt forms of clefts and related subclinical phenotypes. In this CIDR access proposal we request genotyping services for our previously collected cohort comprising cases with orofacial clefts, their immediate family members, and controls with no history of clefts. We will use these data to perform genome-wide association studies for orofacial clefts, cleft subtypes (e.g., cleft lip alone, cleft lip and palate, cleft palate alone), and related subclinical phenotypes. Understanding the genetic architecture of orofacial clefts and related subclinical features may ultimately lead to improved prediction of risk and recurrence, and may inform new preventive or therapeutic interventions.

## Key facts

- **NIH application ID:** 10275973
- **Project number:** 268201700006I-0-759202000002-1
- **Recipient organization:** JOHNS HOPKINS UNIVERSITY
- **Principal Investigator:** KIM DOHENY
- **Activity code:** N01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $546,000
- **Award type:** —
- **Project period:** 2020-07-10 → 2022-07-09

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10275973

## Citation

> US National Institutes of Health, RePORTER application 10275973, ILLUMINA GLOBAL DIVERSITY ARRAY (SHAFFER&MARAZITA) NIDCR FY 2020 CAN 8469539: Genetics of Orofacial Clefts, Sub-types, and Subclinical Phenotypes (268201700006I-0-759202000002-1). Retrieved via AI Analytics 2026-06-01 from https://api.ai-analytics.org/grant/nih/10275973. Licensed CC0.

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